All Snps(Total Genotypes:757) |
|---|
| snpId |
pubmedId |
geneId |
geneSymbol |
diseaseId |
sourceId |
sentence |
score |
Year |
geneSymbol_dbSNP |
CHROMOSOME |
POS |
REF |
ALT |
| rs1015362 | 19384953 | 56288 | PARD3 | umls:C0025202 | BeFree | The haplotype near ASIP (rs4911414[T] and rs1015362[G]) was significantly associated with fair skin color (OR, 2.28; 95% CI, 1.46-3.57) as well as the risks of melanoma (OR, 1.68; 95% CI, 1.18-2.39) and SCC (OR, 1.54; 95% CI, 1.08-2.19). | 0.001628651 | 2009 | NA | 20 | 34150806 | C | T |
| rs1015362 | 19384953 | 434 | ASIP | umls:C0025202 | BeFree | The haplotype near ASIP (rs4911414[T] and rs1015362[G]) was significantly associated with fair skin color (OR, 2.28; 95% CI, 1.46-3.57) as well as the risks of melanoma (OR, 1.68; 95% CI, 1.18-2.39) and SCC (OR, 1.54; 95% CI, 1.08-2.19). | 0.141193667 | 2009 | NA | 20 | 34150806 | C | T |
| rs1042522 | 20535124 | 7157 | TP53 | umls:C0025202 | BeFree | MDM2 SNP309 and p53 Arg72Pro in cutaneous melanoma: association between SNP309 GG genotype and tumor Breslow thickness. | 0.226174462 | 2010 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 22336942 | 4193 | MDM2 | umls:C0025202 | BeFree | Investigation of the effect of MDM2 SNP309 and TP53 Arg72Pro polymorphisms on the age of onset of cutaneous melanoma. | 0.13198705 | 2012 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 23568549 | 7157 | TP53 | umls:C0151779 | BeFree | Assessment of the XPC (A2920C), XPF (T30028C), TP53 (Arg72Pro) and GSTP1 (Ile105Val) polymorphisms in the risk of cutaneous melanoma. | 0.006243163 | 2013 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 22336942 | 7157 | TP53 | umls:C0151779 | BeFree | Investigation of the effect of MDM2 SNP309 and TP53 Arg72Pro polymorphisms on the age of onset of cutaneous melanoma. | 0.006243163 | 2012 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 23568549 | 7508 | XPC | umls:C0025202 | BeFree | Assessment of the XPC (A2920C), XPF (T30028C), TP53 (Arg72Pro) and GSTP1 (Ile105Val) polymorphisms in the risk of cutaneous melanoma. | 0.013735253 | 2013 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 22336942 | 4193 | MDM2 | umls:C0151779 | BeFree | Investigation of the effect of MDM2 SNP309 and TP53 Arg72Pro polymorphisms on the age of onset of cutaneous melanoma. | 0.001085767 | 2012 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 23568549 | 2072 | ERCC4 | umls:C0151779 | BeFree | Assessment of the XPC (A2920C), XPF (T30028C), TP53 (Arg72Pro) and GSTP1 (Ile105Val) polymorphisms in the risk of cutaneous melanoma. | 0.000271442 | 2013 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 23568549 | 2950 | GSTP1 | umls:C0025202 | BeFree | Assessment of the XPC (A2920C), XPF (T30028C), TP53 (Arg72Pro) and GSTP1 (Ile105Val) polymorphisms in the risk of cutaneous melanoma. | 0.011539974 | 2013 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 20535124 | 7157 | TP53 | umls:C0151779 | BeFree | MDM2 SNP309 and p53 Arg72Pro in cutaneous melanoma: association between SNP309 GG genotype and tumor Breslow thickness. | 0.006243163 | 2010 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 23568549 | 7508 | XPC | umls:C0151779 | BeFree | Assessment of the XPC (A2920C), XPF (T30028C), TP53 (Arg72Pro) and GSTP1 (Ile105Val) polymorphisms in the risk of cutaneous melanoma. | 0.000814326 | 2013 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 22336942 | 7157 | TP53 | umls:C0025202 | BeFree | Investigation of the effect of MDM2 SNP309 and TP53 Arg72Pro polymorphisms on the age of onset of cutaneous melanoma. | 0.226174462 | 2012 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 20535124 | 4193 | MDM2 | umls:C0025202 | BeFree | MDM2 SNP309 and p53 Arg72Pro in cutaneous melanoma: association between SNP309 GG genotype and tumor Breslow thickness. | 0.13198705 | 2010 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 23568549 | 7157 | TP53 | umls:C0025202 | BeFree | Assessment of the XPC (A2920C), XPF (T30028C), TP53 (Arg72Pro) and GSTP1 (Ile105Val) polymorphisms in the risk of cutaneous melanoma. | 0.226174462 | 2013 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 20535124 | 4193 | MDM2 | umls:C0151779 | BeFree | MDM2 SNP309 and p53 Arg72Pro in cutaneous melanoma: association between SNP309 GG genotype and tumor Breslow thickness. | 0.001085767 | 2010 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 23568549 | 2072 | ERCC4 | umls:C0025202 | BeFree | Assessment of the XPC (A2920C), XPF (T30028C), TP53 (Arg72Pro) and GSTP1 (Ile105Val) polymorphisms in the risk of cutaneous melanoma. | 0.008186863 | 2013 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 23568549 | 2950 | GSTP1 | umls:C0151779 | BeFree | Assessment of the XPC (A2920C), XPF (T30028C), TP53 (Arg72Pro) and GSTP1 (Ile105Val) polymorphisms in the risk of cutaneous melanoma. | 0.000271442 | 2013 | TP53 | 17 | 7676154 | G | T,C |
| rs104894094 | 17397031 | 4157 | MC1R | umls:C0025202 | BeFree | Cutaneous phenotype and MC1R variants as modifying factors for the development of melanoma in CDKN2A G101W mutation carriers from 4 countries. | 0.284044374 | 2007 | CDKN2A | 9 | 21971058 | C | G,A |
| rs104894094 | 10869234 | 1029 | CDKN2A | umls:C0025202 | BeFree | A single genetic origin for the G101W CDKN2A mutation in 20 melanoma-prone families. | 0.36 | 2000 | CDKN2A | 9 | 21971058 | C | G,A |
| rs104894094 | 17397031 | 1029 | CDKN2A | umls:C0025202 | BeFree | Cutaneous phenotype and MC1R variants as modifying factors for the development of melanoma in CDKN2A G101W mutation carriers from 4 countries. | 0.36 | 2007 | CDKN2A | 9 | 21971058 | C | G,A |
| rs104894094 | 11807902 | 1029 | CDKN2A | umls:C0025202 | BeFree | High prevalence of the G101W germline mutation in the CDKN2A (P16(ink4a)) gene in 62 Italian malignant melanoma families. | 0.36 | 2002 | CDKN2A | 9 | 21971058 | C | G,A |
| rs104894094 | 15221796 | 1029 | CDKN2A | umls:C0025202 | BeFree | We investigated the frequency of the MC1R variants in the Italian region of Liguria, where the occurrence and penetrance of melanoma are low and primary susceptibility is characterized by prevalence of the CDKN2A c.301G>T [p.G101W] founder mutation. | 0.36 | 2004 | CDKN2A | 9 | 21971058 | C | G,A |
| rs104894095 | 12459645 | 1029 | CDKN2A | umls:C0025202 | BeFree | The previously described Met53Ile CDKN2A mutation located in exon 2 was detected in a female patient with melanoma metastatic to the regional lymph nodes, multiple primary cutaneous lesions, atypical naevi and a first-degree relative with melanoma. | 0.36 | 2002 | CDKN2A | 9 | 21971200 | C | T,G |
| rs104894095 | 17171691 | 1029 | CDKN2A | umls:C0025202 | BeFree | The M53I mutation in CDKN2A is a founder mutation that predominates in melanoma patients with Scottish ancestry. | 0.36 | 2007 | CDKN2A | 9 | 21971200 | C | T,G |
| rs104894098 | 23371019 | 1029 | CDKN2A | umls:C0025202 | BeFree | We compared the gene expression profile of SFs from FM individuals with two distinct CDKN2A/p16 mutations (V126D-p16 and R87P-p16) with the gene expression profile of SFs from age-matched individuals without p16 mutations and with no family history of melanoma. | 0.36 | 2013 | CDKN2A | 9 | 21970982 | A | T |
| rs104894098 | 11506491 | 1029 | CDKN2A | umls:C0025202 | BeFree | A common founder for the V126D CDKN2A mutation in seven North American melanoma-prone families. | 0.36 | 2001 | CDKN2A | 9 | 21970982 | A | T |
| rs104894099 | 12700603 | 1029 | CDKN2A | umls:C0025202 | BeFree | A single Mediterranean, possibly Jewish, origin for the Val59Gly CDKN2A mutation in four melanoma-prone families. | 0.36 | 2003 | CDKN2A | 9 | 21971183 | A | C |
| rs104894340 | 19238106 | 1019 | CDK4 | umls:C0025202 | BeFree | We observed no disease-related mutations in CDKN2A, but one patient had a CDK4 R24H mutation and strong family history of melanoma. | 0.061416722 | 2009 | CDK4;MARCH9 | 12 | 57751647 | C | T |
| rs104894340 | 17505264 | 1019 | CDK4 | umls:C0025202 | BeFree | No disease-related CDKN2A germline mutations were identified in any of the melanoma patients analysed but the previously described CDK4 mutation, Arg24His, was found in one patient with a family history of melanoma. | 0.061416722 | 2007 | CDK4;MARCH9 | 12 | 57751647 | C | T |
| rs104894340 | 15880589 | 1384 | CRAT | umls:C0025202 | BeFree | In this article, we report that CDK4 codon 24 is mutated from CGT to CAT (Arg24His) in this unusually large melanoma kindred. | 0.000814326 | 2005 | CDK4;MARCH9 | 12 | 57751647 | C | T |
| rs104894340 | 12904177 | 1029 | CDKN2A | umls:C0025202 | BeFree | Dominant activating mutations affecting codon 24 of the CDK4 gene (replacement of Arg24 by Cys or His) render CDK4 insensitive to p16(INK4) inhibition and are responsible for melanoma susceptibility in some kindreds. | 0.36 | 2003 | CDK4;MARCH9 | 12 | 57751647 | C | T |
| rs104894340 | 15880589 | 7368 | UGT8 | umls:C0025202 | BeFree | In this article, we report that CDK4 codon 24 is mutated from CGT to CAT (Arg24His) in this unusually large melanoma kindred. | 0.000271442 | 2005 | CDK4;MARCH9 | 12 | 57751647 | C | T |
| rs104894340 | 12904177 | 1019 | CDK4 | umls:C0025202 | BeFree | Dominant activating mutations affecting codon 24 of the CDK4 gene (replacement of Arg24 by Cys or His) render CDK4 insensitive to p16(INK4) inhibition and are responsible for melanoma susceptibility in some kindreds. | 0.061416722 | 2003 | CDK4;MARCH9 | 12 | 57751647 | C | T |
| rs10492396 | 25243787 | 675 | BRCA2 | umls:C0151779 | BeFree | By performing false-positive report probability corrections and stepwise Cox proportional hazards regression analyses, we identified significant associations between CM OS and four putatively functional SNPs: BRCA2 rs10492396 (AG vs. GG: adjusted hazard ratio (adjHR)=1.85, 95% confidence interval (CI)=1.16-2.95, P=0.010), rs206118 (CC vs. TT+TC: adjHR=2.44, 95% CI=1.27-4.67, P=0.007), rs3752447 (CC vs. TT+TC: adjHR=2.10, 95% CI=1.38-3.18, P=0.0005), and FANCA rs62068372 (TT vs. CC+CT: adjHR=1.85, 95% CI=1.27-2.69, P=0.001). | 0.000814326 | 2014 | BRCA2 | 13 | 32384750 | G | A |
| rs10492396 | 25243787 | 2175 | FANCA | umls:C0151779 | BeFree | By performing false-positive report probability corrections and stepwise Cox proportional hazards regression analyses, we identified significant associations between CM OS and four putatively functional SNPs: BRCA2 rs10492396 (AG vs. GG: adjusted hazard ratio (adjHR)=1.85, 95% confidence interval (CI)=1.16-2.95, P=0.010), rs206118 (CC vs. TT+TC: adjHR=2.44, 95% CI=1.27-4.67, P=0.007), rs3752447 (CC vs. TT+TC: adjHR=2.10, 95% CI=1.38-3.18, P=0.0005), and FANCA rs62068372 (TT vs. CC+CT: adjHR=1.85, 95% CI=1.27-2.69, P=0.001). | 0.000271442 | 2014 | BRCA2 | 13 | 32384750 | G | A |
| rs1051849 | 23291271 | 11072 | DUSP14 | umls:C0025202 | BeFree | Meta-analysis showed that rs1051849 in the 3' untranslated regions of DUSP14 was associated with a reduced risk of melanoma (odds ratio = 0.89, 95% confidence interval: 0.82-0.96, P = 0.003, false discovery rate = 0.056). | 0.000271442 | 2013 | DUSP14 | 17 | 37513222 | T | C |
| rs1051849 | 23291271 | 23764 | MAFF | umls:C0025202 | BeFree | The risk associations with 16 SNPs around DUSP14 (rs1051849) and a previous reported melanoma locus MAFF/PLA2G6 (proxy SNP rs4608623) were replicated in the GenoMEL dataset (P < 0.01) but failed in the Australian dataset. | 0.000271442 | 2013 | DUSP14 | 17 | 37513222 | T | C |
| rs1052133 | 22687647 | 4595 | MUTYH | umls:C0025202 | BeFree | We hypothesized that common nsSNPs of BER genes, specifically ADPRT rs1136410, XRCC1 rs25487, rs25489, rs1799782, APEX1 rs1130409, OGG1 rs1052133, LIG3 rs3136025 and MUTYH rs3219466, may contribute to risk of melanoma. | 0.000542884 | 2012 | OGG1;CAMK1 | 3 | 9757089 | C | G |
| rs10813831 | 24621100 | 64135 | IFIH1 | umls:C0025202 | BeFree | We investigated the association of polymorphisms in three pattern recognition receptor (PRR) genes-toll-like receptor 3 (TLR3) (rs3775291), retinoic acid-inducible gene I (RIG-I) (rs10813831) and melanoma differentiation-associated gene 5 (MDA5) (rs1990760)-with the severity of EV71 infection. | 0.015210676 | 2014 | DDX58 | 9 | 32526148 | G | A |
| rs10813831 | 24621100 | 8856 | NR1I2 | umls:C0025202 | BeFree | We investigated the association of polymorphisms in three pattern recognition receptor (PRR) genes-toll-like receptor 3 (TLR3) (rs3775291), retinoic acid-inducible gene I (RIG-I) (rs10813831) and melanoma differentiation-associated gene 5 (MDA5) (rs1990760)-with the severity of EV71 infection. | 0.001628651 | 2014 | DDX58 | 9 | 32526148 | G | A |
| rs10813831 | 24621100 | 5920 | RARRES3 | umls:C0025202 | BeFree | We investigated the association of polymorphisms in three pattern recognition receptor (PRR) genes-toll-like receptor 3 (TLR3) (rs3775291), retinoic acid-inducible gene I (RIG-I) (rs10813831) and melanoma differentiation-associated gene 5 (MDA5) (rs1990760)-with the severity of EV71 infection. | 0.009229024 | 2014 | DDX58 | 9 | 32526148 | G | A |
| rs11225163 | 25628125 | 10413 | YAP1 | umls:C0151779 | BeFree | We found a predictive role of YAP1 rs11225163 CC, TEAD1 rs7944031 AG+GG and TEAD4 rs1990330 CA+AA in the prognosis of CM. | 0.000542884 | 2014 | YAP1 | 11 | 102200112 | C | T |
| rs11225163 | 25628125 | 7003 | TEAD1 | umls:C0151779 | BeFree | We found a predictive role of YAP1 rs11225163 CC, TEAD1 rs7944031 AG+GG and TEAD4 rs1990330 CA+AA in the prognosis of CM. | 0.000271442 | 2014 | YAP1 | 11 | 102200112 | C | T |
| rs11225163 | 25628125 | 7004 | TEAD4 | umls:C0151779 | BeFree | We found a predictive role of YAP1 rs11225163 CC, TEAD1 rs7944031 AG+GG and TEAD4 rs1990330 CA+AA in the prognosis of CM. | 0.000271442 | 2014 | YAP1 | 11 | 102200112 | C | T |
| rs112587690 | 22618666 | 3265 | HRAS | umls:C0025202 | BeFree | Association between HRAS rs12628 and rs112587690 polymorphisms with the risk of melanoma in the North American population. | 0.006243163 | 2012 | NA | NA | NA | NA | NA |
| rs1126809 | 21906913 | 7299 | TYR | umls:C0151779 | BeFree | We genotyped a frequent TYR variant (p.R402Q) in 1273 patients {1047 cutaneous melanoma (CM) and 226 basal cell carcinoma (BCC)} and 925 controls, and the full coding region of TYR was sequenced in 287 patients suspected of genetic predisposition to SK (familial and/or multiple SK and/or onset before 40 years) and 187 controls. | 0.002442977 | 2011 | TYR | 11 | 89284793 | G | A |
| rs1126809 | 21906913 | 7299 | TYR | umls:C0025202 | BeFree | We genotyped a frequent TYR variant (p.R402Q) in 1273 patients {1047 cutaneous melanoma (CM) and 226 basal cell carcinoma (BCC)} and 925 controls, and the full coding region of TYR was sequenced in 287 patients suspected of genetic predisposition to SK (familial and/or multiple SK and/or onset before 40 years) and 187 controls. | 0.342096784 | 2011 | TYR | 11 | 89284793 | G | A |
| rs1130409 | 22687647 | 4595 | MUTYH | umls:C0025202 | BeFree | We hypothesized that common nsSNPs of BER genes, specifically ADPRT rs1136410, XRCC1 rs25487, rs25489, rs1799782, APEX1 rs1130409, OGG1 rs1052133, LIG3 rs3136025 and MUTYH rs3219466, may contribute to risk of melanoma. | 0.000542884 | 2012 | APEX1;OSGEP | 14 | 20456995 | T | A,G |
| rs113488022 | 18408659 | 4893 | NRAS | umls:C0025202 | BeFree | BRAF(V600E) mutation was detected in 50% of the acquired nevi and in 70% of the cutaneus melanomas in the absence of NRAS alterations. | 0.235804412 | 2008 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25034364 | 22882 | ZHX2 | umls:C0025202 | BeFree | RAF is among the most frequently mutated kinases, where BRAF V600E mutation occurs in most hairy cell leukemias (HCL) and half of malignant melanomas. | 0.019543815 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24531984 | 27040 | LAT | umls:C0025202 | BeFree | In this study, we show that the expression of LAT1 and ASCT2 is significantly increased in human melanoma samples and is present in both BRAF(WT) (C8161 and WM852) and BRAF(V600E) mutant (1205Lu and 451Lu) melanoma cell lines. | 0.000271442 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 21107323 | 673 | BRAF | umls:C0025202 | BeFree | Activating B-RAF(V600E) (also known as BRAF) kinase mutations occur in ∼7% of human malignancies and ∼60% of melanomas. | 0.430771416 | 2010 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24425783 | 5294 | PIK3CG | umls:C0025202 | BeFree | Blockade of BRAF(V600E) → MEK1/2 → ERK1/2 or class I PI3K inhibited melanoma proliferation, whereas inhibition of AKT had only modest effects, even in cells with mutated or amplified AKT. | 0.016839328 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25407517 | 673 | BRAF | umls:C0025202 | BeFree | The primary melanoma expressed mutant BRAF-V600E and possessed a homozygous deletion of CDKN2A. | 0.430771416 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22796458 | 5728 | PTEN | umls:C0025202 | BeFree | Our data indicate that the C57BL/6J Tyr::CreER(T2);PTEN(F-/-);BRAF(F-V600E/+) melanoma model could be used as a standard model in which targeted and immunotherapy combinations can be tested in a high-throughput manner. | 0.272069867 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22845480 | 1956 | EGFR | umls:C0025202 | BeFree | Here, we discuss the current commonly used predictive pharmacogenetic biomarkers in clinical oncology molecular testing: BRAF V600E for vemurafenib in melanoma; EML4-ALK for crizotinib and EGFR for erlotinib and gefitinib in non-small-cell lung cancer; KRAS against the use of cetuximab and panitumumab in colorectal cancer; ERBB2 (HER2/neu) for trastuzumab in breast cancer; BCR-ABL for tyrosine kinase inhibitors in chronic myeloid leukemia; and PML/RARα for all-trans-retinoic acid and arsenic trioxide treatment for acute promyelocytic leukemia. | 0.02303634 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25228337 | 673 | BRAF | umls:C0025202 | BeFree | Accurate detection of BRAF p.V600E mutations in challenging melanoma specimens requires stringent immunohistochemistry scoring criteria or sensitive molecular assays. | 0.430771416 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24970815 | 5609 | MAP2K7 | umls:C0025202 | BeFree | Inhibition of RAF/MEK/ERK signaling is beneficial for many patients with BRAF(V600E)-mutated melanoma. | 0.029315722 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24756795 | 22882 | ZHX2 | umls:C0025202 | BeFree | The activating BRAF mutation V600E and related mutations in this codon are most important for the activation of the RAS/RAF/MEK/ERK mitogen-activated protein kinase (MAPK) signalling pathway in melanoma. | 0.019543815 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22614711 | 673 | BRAF | umls:C0025202 | BeFree | Approximately 40-60% of melanomas from Caucasian populations carry activating mutations in the BRAF oncogene, with the most common being the p.Val600Glu (V600E) hotspot mutation in exon 15. | 0.430771416 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22735384 | 673 | BRAF | umls:C0025202 | BeFree | Patients aged 18 years or older with previously untreated, stage IV or unresectable stage III BRAF(V600E) mutation-positive melanoma were randomly assigned (3:1) to receive dabrafenib (150 mg twice daily, orally) or dacarbazine (1000 mg/m(2) intravenously every 3 weeks). | 0.430771416 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24048637 | 673 | BRAF | umls:C0025202 | BeFree | The treatment of malignant melanoma with inhibitors targeting the BRAF V600E mutation has demonstrated dramatic clinical and radiographic response with improved progression-free and overall survival in the majority of patients receiving treatment. | 0.430771416 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23174497 | 673 | BRAF | umls:C0025202 | BeFree | Molecular platforms utilized to detect BRAF V600E mutation in melanoma. | 0.430771416 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22234612 | 673 | BRAF | umls:C0025202 | BeFree | Thus, Wnt/β-catenin signaling and AXIN1 may regulate the efficacy of inhibitors of BRAF(V600E), suggesting that manipulation of the Wnt/β-catenin pathway could be combined with BRAF inhibitors to treat melanoma. | 0.430771416 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25472943 | 5609 | MAP2K7 | umls:C0025202 | BeFree | Interestingly, PI3K inhibition forestalled the onset of MEK inhibitor resistance in two independent GEM models of BRAF(V600E)-driven melanoma. | 0.029315722 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25073704 | 23152 | CIC | umls:C0025202 | BeFree | We investigated ETV1 in 68 human melanoma brain metastases using FISH for ETV1 gene (located at chromosome 7p21) and centromere chromosome 7 and immunohistochemistry for ETV1, BRAF (V600E) , and ETV1/BRAF associated proteins pMSK1, pRSK1, pp38, pMEK1/2, MAPKAP kinase 2, CIC, HIF-1alpha and Ki-67. | 0.000542884 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24710085 | 673 | BRAF | umls:C0025202 | BeFree | Inhibitors of RAF inhibit the MAPK pathway that plays an important role in the development and progression of those melanoma carrying the V600E BRAF mutation, but there's a subset of such patients who do not respond to the therapy. | 0.430771416 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22281684 | 673 | BRAF | umls:C0025202 | BeFree | Inhibition of the BRAF(V600E) oncoprotein by the small-molecule drug PLX4032 (vemurafenib) is highly effective in the treatment of melanoma. | 0.430771416 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24858900 | 2158 | F9 | umls:C0151779 | BeFree | The purpose of this study is to describe a case of concurrent medullary and papillary thyroid carcinoma (MTC and PTC) and cutaneous melanoma and to analyze BRAF(V600E) mutation in plasma and tissues. | 0.000271442 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 15811117 | 673 | BRAF | umls:C0025202 | BeFree | The absence of the BRAF V600E mutation in Spitz's nevi may serve as a molecular signature to distinguish these lesions from common nevi, dysplastic nevi, and some types of malignant melanoma. | 0.430771416 | 2005 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22911700 | 673 | BRAF | umls:C0025202 | BeFree | We also observed that pharmacological inhibition of oncogenic BRAF(V600E) using PLX4720 did not influence SLUG expression in melanoma cells harboring BRAF(V600E). | 0.430771416 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23909652 | 673 | BRAF | umls:C0025202 | BeFree | Vemurafenib, a selective BRAF (v-raf murine sarcoma viral oncogene homologue B1) kinase inhibitor, is a new targeted biotherapy that improves survival in patients with metastatic melanomas harbouring the BRAF V600E mutation. | 0.430771416 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22553342 | 673 | BRAF | umls:C0025202 | BeFree | Knockdown of Apollon, by siRNA, triggered apoptosis and/or significantly enhanced melanoma cell death in response to cytotoxic drugs, MEK- and BRAF(V600E)-specific inhibitors, and soluble or membrane-bound TRAIL. | 0.430771416 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23650282 | 673 | BRAF | umls:C0025202 | BeFree | Using a transgenic BRAF(V600E) mouse model previously generated in our laboratory, we report that loss of ARF is able to enhance spontaneous melanoma formation and cause profound sensitivity to neonatal UVB exposure. | 0.430771416 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23211290 | 673 | BRAF | umls:C0151779 | BeFree | BRAF(V600E) is the most common mutation in cutaneous melanoma and has become the target of treatment for patients with metastatic melanoma. | 0.016557954 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22091682 | 673 | BRAF | umls:C0025202 | BeFree | In addition, targeting components of the MAPK pathway have also demonstrated survival advantage in patients with BRAF-mutated melanoma and vemurafenib (Zelboraf™, Plexxikon/Roche) was approved by the FDA in August 2011 for the first-line treatment of both metastatic and unresectable melanomas for patients whose tumors have V600E mutations in the BRAF gene. | 0.430771416 | 2011 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25351955 | 5551 | PRF1 | umls:C0025202 | BeFree | To address this question, we developed a metastatic BRAF(V600E)-mutant melanoma cell line and demonstrated that the antimetastatic properties of BRAF inhibitor PLX4720 (a research analogue of vemurafenib) require host natural killer (NK) cells and perforin. | 0.000542884 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 15948220 | 673 | BRAF | umls:C0025202 | BeFree | In total, we found 21 (70%) out of 30 melanoma cell lines with BRAF mutations in exon 15: two of which were the p.Val600Asp (c.1799-800TG>AT) mutation, one cell line contained the p.Val600Arg (c.1798-99GT>AG) mutation, and 18 cell lines contained the p.Val600Glu (c.1799T>A) mutation. | 0.430771416 | 2005 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23211290 | 673 | BRAF | umls:C0025202 | BeFree | In addition to metastatic lesions, we also examined 20 primary melanomas for the expression of BRAF(V600E). | 0.430771416 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25974027 | 673 | BRAF | umls:C0025202 | BeFree | The BRAF V600E mutant melanoma cell line, A375, was used as an in-vitro model system. | 0.430771416 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24742694 | 673 | BRAF | umls:C0025202 | BeFree | SIRT1 inhibition decreases melanoma cell growth and rescues the sensibility to PLX4032 of PLX4032-resistant BRAF(V600E)-mutated melanoma cells. | 0.430771416 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24670642 | 673 | BRAF | umls:C0025202 | BeFree | Reversible and adaptive resistance to BRAF(V600E) inhibition in melanoma. | 0.430771416 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25576527 | 673 | BRAF | umls:C0025202 | BeFree | We present a case of a 56-year old woman with a history of stage IIIA malignant melanoma resected in 2004 that was diagnosed in May 2013 with BRAF V600E-mutated metastatic disease (left arm mass, lungs and adrenal glands). | 0.430771416 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25048604 | 4893 | NRAS | umls:C0151779 | BeFree | We investigated the associations between BRAF(V600E) and NRAS(Q61R) mutations and known risk factors, clinicopathologic characteristics and clinical outcomes of melanoma in a case series of primary invasive cutaneous melanoma from the Nurses' Health Study (NHS). | 0.005700279 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 16052531 | 673 | BRAF | umls:C0025202 | BeFree | Effective inhibition of cell growth and invasion of melanoma by combined suppression of BRAF (V599E) and Skp2 with lentiviral RNAi. | 0.430771416 | 2006 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24858900 | 8030 | CCDC6 | umls:C0025202 | BeFree | BRAF(V600E) allele was detected in PTC and melanoma but not in MTC tissues. | 0.000542884 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24185007 | 11329 | STK38 | umls:C0025202 | BeFree | Malignant melanomas harbouring point mutations (Val600Glu) in the serine/threonine-protein kinase BRAF (BRAF(V600E)) depend on RAF-MEK-ERK signalling for tumour cell growth. | 0.000271442 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25318602 | 673 | BRAF | umls:C0025202 | BeFree | Performance comparison of three BRAF V600E detection methods in malignant melanoma and colorectal cancer specimens. | 0.430771416 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 18559533 | 22882 | ZHX2 | umls:C0025202 | BeFree | To anticipate potential mechanisms of acquired resistance to RAF inhibitors during the course of treatment, we established drug-resistant clones from a human melanoma-derived cell line harboring the recurrent V600E activating BRAF mutation, which exhibits exquisite sensitivity to AZ628, a selective RAF kinase inhibitor. | 0.019543815 | 2008 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22850568 | 673 | BRAF | umls:C0025202 | BeFree | Oncogenic BRAF(V600E) promotes stromal cell-mediated immunosuppression via induction of interleukin-1 in melanoma. | 0.430771416 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24352648 | 673 | BRAF | umls:C0025202 | BeFree | This focus has been justified by the recent success of BRAF and MEK inhibitors in prolonging the lives of patients with BRAF(V600E/K)-mutant melanoma. | 0.430771416 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24259661 | 673 | BRAF | umls:C0025202 | BeFree | Dabrafenib joins vemurafenib to confirm the superior clinical outcome of the BRAF inhibitors when compared with dacarbazine in patients with BRAF(V600E)-positive advanced melanoma. | 0.430771416 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22012135 | 673 | BRAF | umls:C0025202 | BeFree | BRAF V600E protein was expressed in BM of 42/76 (55.3%) melanomas, 1/15 (6.7%) ovarian cancers, 4/72 (5.5%) colorectal cancers, 1/355 (0.3%) lung cancers, 2/6 thyroid cancers and 1/2 choriocarcinomas. | 0.430771416 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 20149136 | 5595 | MAPK3 | umls:C0025202 | BeFree | Our studies with melanoma tumor cells that are BRAF(V600E/K) and BRAF(WT) showed that, paradoxically, while PLX4032 inhibited ERK1/2 in the highly sensitive BRAF(V600E/K), it activated the pathway in the resistant BRAF(WT) cells, via RAF1 activation, regardless of the status of mutations in NRAS or PTEN. | 0.006524536 | 2010 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22997239 | 5609 | MAP2K7 | umls:C0025202 | BeFree | Here, CDK2/4 inhibition statistically significantly augmented the effects of BRAF(V600E)- or MEK-inhibitors on melanoma cell viability in vitro and growth in athymic nude Foxn1 ( nu ) mice (P = .03 when mean tumor volume at day 13 was compared for BRAF(V600E) inhibitor vs BRAF(V600E) inhibitor plus CDK2/4 inhibition; P = .02 when mean tumor volume was compared for MEK inhibitor vs MEK inhibitor plus CDK2/4 inhibition; P values were calculated by a two-sided Welch t test; n = 4-8 mice per group). | 0.029315722 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 16801397 | 3569 | IL6 | umls:C0025202 | BeFree | MEK inhibitor U0126 or RNA interference (RNAi) for BRAF(V600E) decreased production of the immunosuppressive soluble factors interleukin (IL)-10, VEGF, or IL-6 from melanoma cells to levels comparable to those after signal transducer and activator of transcription (STAT)3 inactivation. | 0.019673298 | 2006 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25034364 | 5894 | RAF1 | umls:C0025202 | BeFree | RAF is among the most frequently mutated kinases, where BRAF V600E mutation occurs in most hairy cell leukemias (HCL) and half of malignant melanomas. | 0.027706934 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22865452 | 673 | BRAF | umls:C0025202 | BeFree | Interestingly, this combination was also effective against BRAF V600E-mutant melanoma cells that were resistant to the BRAF inhibitor vemurafenib. | 0.430771416 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25046227 | 673 | BRAF | umls:C0151779 | BeFree | About 40% to 60% of cutaneous melanomas have BRAF mutations, and 90% of the mutations involve a specific substitution at codon 600 (BRAF V600E). | 0.016557954 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23770856 | 673 | BRAF | umls:C0025202 | BeFree | Downregulation of miR-768-3p appeared to be mediated by activation of the MEK/ERK pathway, in that treatment of BRAF(V600E) melanoma cells with the mutant BRAF inhibitor PLX4720 or exposure of either BRAF(V600E) or wild-type BRAF melanoma cells to the MEK inhibitor U0126 resulted in the upregulation of miR-768-3p and inhibition of nascent protein synthesis. | 0.430771416 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24858900 | 5979 | RET | umls:C0025202 | BeFree | BRAF(V600E) allele was detected in PTC and melanoma but not in MTC tissues. | 0.002714419 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 20576522 | 673 | BRAF | umls:C0025202 | BeFree | A significant difference between the control group and invasive melanomas (p<0.01) was evidenced in BRAF(V600E) concentration, either as relative percentage or absolute values. | 0.430771416 | 2010 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 18945298 | 673 | BRAF | umls:C0025202 | BeFree | BRAF V600E appeared to be the most commonly mutated gene in both the melanocytic aggregate (seven of 18, 39%) and the melanoma (four of 18, 22%). | 0.430771416 | 2009 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25542448 | 673 | BRAF | umls:C0025202 | BeFree | BRAF(V600E) is the most common oncogenic lesion in melanoma and results in constitutive activation of the MAPK pathway and uncontrolled cell growth. | 0.430771416 | 2016 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 14500344 | 673 | BRAF | umls:C0025202 | BeFree | Suppression of BRAF(V599E) in human melanoma abrogates transformation. | 0.430771416 | 2003 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24756795 | 5609 | MAP2K7 | umls:C0025202 | BeFree | The activating BRAF mutation V600E and related mutations in this codon are most important for the activation of the RAS/RAF/MEK/ERK mitogen-activated protein kinase (MAPK) signalling pathway in melanoma. | 0.029315722 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23159593 | 673 | BRAF | umls:C0151779 | BeFree | We have evaluated five different methods: the Cobas test, Sanger sequencing, pyrosequencing, TaqMan-based allele-specific PCR, and Competitive Amplification of Differentially Melting Amplicons (CADMA), for detection of BRAF c.1799T>A (V600E) mutations in 28 formalin-fixed paraffin-embedded (FFPE) cutaneous melanoma samples. | 0.016557954 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23159593 | 673 | BRAF | umls:C0025202 | BeFree | We have evaluated five different methods: the Cobas test, Sanger sequencing, pyrosequencing, TaqMan-based allele-specific PCR, and Competitive Amplification of Differentially Melting Amplicons (CADMA), for detection of BRAF c.1799T>A (V600E) mutations in 28 formalin-fixed paraffin-embedded (FFPE) cutaneous melanoma samples. | 0.430771416 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24703243 | 673 | BRAF | umls:C0025202 | BeFree | Near-genomewide RNAi screening for regulators of BRAF(V600E) -induced senescence identifies RASEF, a gene epigenetically silenced in melanoma. | 0.430771416 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 21725359 | 5894 | RAF1 | umls:C0025202 | BeFree | Concurrent loss of the PTEN and RB1 tumor suppressors attenuates RAF dependence in melanomas harboring (V600E)BRAF. | 0.027706934 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24746704 | 673 | BRAF | umls:C0025202 | BeFree | MEK inhibitors are clinically active in BRAF(V600E) melanomas but only marginally so in KRAS mutant tumors. | 0.430771416 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25037456 | 27352 | SGSM3 | umls:C0025202 | BeFree | Since patients diagnosed with BRAF V600E and V600K mutated advanced melanoma show response to treatment with MAP kinase inhibitors, several sensitive methods have been developed to determine the V600 allele status of melanoma patients. | 0.005157396 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24858900 | 5727 | PTCH1 | umls:C0025202 | BeFree | BRAF(V600E) allele was detected in PTC and melanoma but not in MTC tissues. | 0.001357209 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 21910007 | 673 | BRAF | umls:C0025202 | BeFree | Sodium arsenite- or statin-induced apoptosis was independent of BRAF status (wild type versus V600E) in melanoma lines. | 0.430771416 | 2011 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23802768 | 6654 | SOS1 | umls:C0025202 | BeFree | Therefore, blockade of HGF-MET signalling might be a valid therapeutic strategy, in combination with BRAF inhibition, in BRAF(V600E/K) melanoma. | 0.002442977 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24884503 | 673 | BRAF | umls:C0025202 | BeFree | Large-scale label-free comparative proteomics analysis of polo-like kinase 1 inhibition via the small-molecule inhibitor BI 6727 (Volasertib) in BRAF(V600E) mutant melanoma cells. | 0.430771416 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25538079 | 673 | BRAF | umls:C0025202 | BeFree | Similarly, activation of Notch1 signaling promoted acquired resistance to MAPK inhibitors in BRAF(V600E) melanoma cells in culture, and the abundance of Notch1 pathway markers was increased in tumors from a subset of melanoma patients. | 0.430771416 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22241959 | 5728 | PTEN | umls:C0025202 | BeFree | Cell sensitivity to PLX4032 was dependent on BRAF(V600E) and independent from other gene alterations that commonly occur in melanoma such as PTEN loss, BRAF, and MITF gene amplification. | 0.272069867 | 2011 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23685455 | 57546 | PDP2 | umls:C0025202 | BeFree | Further supporting a crucial role of PDH in OIS, enforced normalization of either PDK1 or PDP2 expression levels inhibited PDH and abrogated OIS, thereby licensing BRAF(V600E)-driven melanoma development. | 0.000271442 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25442222 | 673 | BRAF | umls:C0025202 | BeFree | Prospective immunohistochemical analysis of BRAF V600E mutation in melanoma. | 0.430771416 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24746704 | 3845 | KRAS | umls:C0025202 | BeFree | MEK inhibitors are clinically active in BRAF(V600E) melanomas but only marginally so in KRAS mutant tumors. | 0.005167327 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24970815 | 673 | BRAF | umls:C0025202 | BeFree | Our data demonstrate that MEK inhibition of BRAF(V600E)-positive melanoma cells can protect from genotoxic stress, thereby achieving the opposite of the intended anti-tumorigenic effect of the combination of MEK inhibitor with inducers of intrinsic apoptosis. | 0.430771416 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 14500344 | 2011 | MARK2 | umls:C0025202 | BeFree | Activating mutations in the BRAF serine/threonine kinase are found in >70% of human melanomas, of which >90% are BRAF(V599E). | 0.010606096 | 2003 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25422890 | 673 | BRAF | umls:C0025202 | BeFree | CH5126766/RO5126766 induced G1 cell cycle arrest in two melanoma cell lines with the BRAF V600E or NRAS mutation. | 0.430771416 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 19682280 | 673 | BRAF | umls:C0025202 | BeFree | Identification of direct transcriptional targets of (V600E)BRAF/MEK signalling in melanoma. | 0.430771416 | 2009 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24345644 | 673 | BRAF | umls:C0025202 | BeFree | In clinical trials trametinib, a MEK inhibitor (MEKi) increases BRAFi therapy efficacy in BRAF(V600E) melanomas and reduces BRAFi-induced KA and cuSCC frequency. | 0.430771416 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24425783 | 5293 | PIK3CD | umls:C0025202 | BeFree | Blockade of BRAF(V600E) → MEK1/2 → ERK1/2 or class I PI3K inhibited melanoma proliferation, whereas inhibition of AKT had only modest effects, even in cells with mutated or amplified AKT. | 0.014114977 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23802768 | 8731 | RNMT | umls:C0025202 | BeFree | Impact of MET expression on outcome in BRAF(V600E/K) advanced melanoma. | 0.003528744 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23489023 | 673 | BRAF | umls:C0025202 | BeFree | Because kinase-activating mutations in the BRAF proto-oncogene commonly occur in advanced PTC, and inhibition of BRAF(V600E) has shown promising clinical activity in melanoma, BRAF inhibitor therapy may be an effective strategy to treat metastatic PTC. | 0.430771416 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25643238 | 673 | BRAF | umls:C0025202 | BeFree | Successful (neo)adjuvant BRAF-targeted therapy in a patient with locally advanced BRAF V600E mutant melanoma. | 0.430771416 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23174497 | 22882 | ZHX2 | umls:C0025202 | BeFree | The development of RAF inhibitors targeted against BRAF V600E mutant melanoma cells has revolutionized the treatment of MM. | 0.019543815 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24614711 | 673 | BRAF | umls:C0025202 | BeFree | Furthermore, melanomas and their associated naevi were concordant in BRAF(V600E) status, which suggests that false positive mutation tests occurring as a consequence of admixed BRAF mutant naevus cells in BRAF wild-type primary melanomas are unlikely to be a problem in clinical practice. | 0.430771416 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22067401 | 5894 | RAF1 | umls:C0025202 | BeFree | RAF inhibitors are effective against melanomas with BRAF V600E mutations but may induce keratoacanthomas (KAs) and cutaneous squamous cell carcinomas (cSCCs). | 0.027706934 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 21750866 | 673 | BRAF | umls:C0151779 | BeFree | The classical V600E BRAF mutation was not found; instead a novel V600L was observed suggesting that the oncogenic event in OMM is different from that in skin melanoma. | 0.016557954 | 2011 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 21725359 | 673 | BRAF | umls:C0025202 | BeFree | Concurrent loss of the PTEN and RB1 tumor suppressors attenuates RAF dependence in melanomas harboring (V600E)BRAF. | 0.430771416 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 19079609 | 1029 | CDKN2A | umls:C0025202 | BeFree | In the course of modeling malignant melanoma in a tyrosinase promoter transgenic system, we developed a genetically-engineered mouse (GEM) model of invasive prostate cancers, whereby an activating mutation of BRAF(V600E)--a mutation found in approximately 10% of human prostate tumors--was targeted to the epithelial compartment of the prostate gland on the background of Ink4a/Arf deficiency. | 0.36 | 2008 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 15208655 | 673 | BRAF | umls:C0025202 | BeFree | These results clarify that the mutated BRAF (V599E) is essentially involved in malignant phenotype of melanoma cells through the MAPK activation and is an attractive molecular target for melanoma treatment. | 0.430771416 | 2004 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22661227 | 4286 | MITF | umls:C0025202 | BeFree | Discoveries of frequent mutations involving BRAF(V600E), developmental and oncogenic roles for the microphthalmia-associated transcription factor (MITF) pathway, clinical efficacy of BRAF-targeted small molecules, and emerging mechanisms underlying resistance to targeted therapeutics represent just a sample of the findings that have created a striking inflection in the quest for clinically meaningful progress in the melanoma field. | 0.074352293 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 15313890 | 673 | BRAF | umls:C0025202 | BeFree | SPRY2 is an inhibitor of the ras/extracellular signal-regulated kinase pathway in melanocytes and melanoma cells with wild-type BRAF but not with the V599E mutant. | 0.430771416 | 2004 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24563339 | 673 | BRAF | umls:C0025202 | BeFree | Immunohistochemistry as a quick screening method for clinical detection of BRAF(V600E) mutation in melanoma patients. | 0.430771416 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24258977 | 673 | BRAF | umls:C0025202 | BeFree | Assaying for BRAF V600E in tissue and blood in melanoma. | 0.430771416 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25300205 | 9429 | ABCG2 | umls:C0025202 | BeFree | In a panel of 16 V600E BRAF-mutated melanoma cell lines consisting of four parental cell lines and their sub-lines with acquired resistance to PLX4032, PLX4720, vincristine (cytotoxic ABCB1 and ABCC1 substrate), or mitoxantrone (cytotoxic ABCG2 substrate), we detected enhanced ABC transporter expression in 4/4 cytotoxic ABC transporter substrate-resistant, 3/4 PLX4720-resistant, and 1/4 PLX4032-resistant melanoma cell lines. | 0.00408156 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25654738 | 5894 | RAF1 | umls:C0025202 | BeFree | In recent years, intracellular signal transduction via RAS-RAF-MEK-ERK has been successfully targeted in new treatment approaches for melanoma using small molecule inhibitors against activated BRAF (V600E mutation) and activated MEK1/2. | 0.027706934 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 20551065 | 673 | BRAF | umls:C0025202 | BeFree | Our findings offer evidence of the potent antitumor activity of RG7204 against melanomas harboring the mutant BRAF(V600E) gene. | 0.430771416 | 2010 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24185007 | 9020 | MAP3K14 | umls:C0025202 | BeFree | Malignant melanomas harbouring point mutations (Val600Glu) in the serine/threonine-protein kinase BRAF (BRAF(V600E)) depend on RAF-MEK-ERK signalling for tumour cell growth. | 0.000814326 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25746038 | 673 | BRAF | umls:C0025202 | BeFree | The low incidence of BRAF(V600E)(-) mutant melanoma among Irish patients was confirmed in five independent Irish cohorts, and in total, only 165 of 689 (24%) Irish cases carried mutant BRAF(V600E). | 0.430771416 | 2016 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 21639808 | 673 | BRAF | umls:C0025202 | BeFree | Improved survival with vemurafenib in melanoma with BRAF V600E mutation. | 0.430771416 | 2011 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 15373778 | 673 | BRAF | umls:C0025202 | BeFree | Among 13 lesions with structural changes, BRAF(V599E) mutations were found in 4 (3 melanomas and 1 nevus). | 0.430771416 | 2004 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22576211 | 673 | BRAF | umls:C0025202 | BeFree | Metformin accelerates the growth of BRAF V600E-driven melanoma by upregulating VEGF-A. | 0.430771416 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24610826 | 673 | BRAF | umls:C0025202 | BeFree | Accordingly, therapeutic inhibition of BRAF(V600E) reverses metabolic reprogramming in melanoma cells and elevates OXPHOS through increased MITF-PGC1α levels. | 0.430771416 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 20605766 | 673 | BRAF | umls:C0025202 | BeFree | Activation of the mitogen-activated protein kinase pathway in malignant melanoma can occur independently of the BRAF T1799A mutation. | 0.430771416 | 2010 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23685455 | 673 | BRAF | umls:C0025202 | BeFree | Further supporting a crucial role of PDH in OIS, enforced normalization of either PDK1 or PDP2 expression levels inhibited PDH and abrogated OIS, thereby licensing BRAF(V600E)-driven melanoma development. | 0.430771416 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 17159915 | 673 | BRAF | umls:C0025202 | BeFree | Distinct clinical and pathological features are associated with the BRAF(T1799A(V600E)) mutation in primary melanoma. | 0.430771416 | 2007 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25890285 | 673 | BRAF | umls:C0151779 | BeFree | We performed an integrative analysis of transcriptomic and epigenomic changes disturbed by BRAF (V600E) by comparing the gene expression and methylation profiles of 34 primary cutaneous melanoma tumors harboring BRAF (V600E) with those of 27 BRAF (WT) samples available from The Cancer Genome Atlas (TCGA). | 0.016557954 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 21717063 | 1464 | CSPG4 | umls:C0025202 | BeFree | This study provides a foundation for future investigations designed to improve BRAF inhibitor effectiveness in vitro and in vivo for treating melanoma(BRAF(V600E)/CSPG4+) cells in combination with a CSPG4-specific mAb. | 0.00979177 | 2011 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 17409425 | 673 | BRAF | umls:C0025202 | BeFree | Mutant V600E BRAF increases hypoxia inducible factor-1alpha expression in melanoma. | 0.430771416 | 2007 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24858900 | 4489 | MT1A | umls:C0025202 | BeFree | BRAF(V600E) allele was detected in PTC and melanoma but not in MTC tissues. | 0.000271442 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24185007 | 50488 | MINK1 | umls:C0025202 | BeFree | Malignant melanomas harbouring point mutations (Val600Glu) in the serine/threonine-protein kinase BRAF (BRAF(V600E)) depend on RAF-MEK-ERK signalling for tumour cell growth. | 0.000271442 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23584600 | 831 | CAST | umls:C0025202 | BeFree | CAST-PCR gave rapid and accurate results for the common V600E and V600K mutations, however additional assays are required to detect rarer BRAF mutation types found in 3-4% of melanomas. | 0.000271442 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 18408659 | 673 | BRAF | umls:C0025202 | BeFree | BRAF(V600E) mutation was detected in 50% of the acquired nevi and in 70% of the cutaneus melanomas in the absence of NRAS alterations. | 0.430771416 | 2008 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24717435 | 673 | BRAF | umls:C0025202 | BeFree | The BRAF kinase is mutated, typically Val 600→Glu (V600E), to induce an active oncogenic state in a large fraction of melanomas, thyroid cancers, hairy cell leukaemias and, to a smaller extent, a wide spectrum of other cancers. | 0.430771416 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24684646 | 673 | BRAF | umls:C0025202 | BeFree | Expression of AID in malignant melanoma with BRAF(V600E) mutation. | 0.430771416 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22661227 | 673 | BRAF | umls:C0025202 | BeFree | Discoveries of frequent mutations involving BRAF(V600E), developmental and oncogenic roles for the microphthalmia-associated transcription factor (MITF) pathway, clinical efficacy of BRAF-targeted small molecules, and emerging mechanisms underlying resistance to targeted therapeutics represent just a sample of the findings that have created a striking inflection in the quest for clinically meaningful progress in the melanoma field. | 0.430771416 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23935925 | 673 | BRAF | umls:C0025202 | BeFree | Finally, we conclude that inhibition of SHH-GLI signaling pathway in human melanoma by the specific smoothened inhibitor NVP-LDE225 could have potential therapeutic application in human melanoma even in the absence of BRAF(V600E) mutation and warrants further investigations. | 0.430771416 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 21615881 | 673 | BRAF | umls:C0025202 | BeFree | NRAS mutations were associated with thicker tumors and higher rates of mitosis when compared to BRAF(V600E) and WT melanoma and independently of this, with shorter MSS. | 0.430771416 | 2011 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25300205 | 4363 | ABCC1 | umls:C0025202 | BeFree | In a panel of 16 V600E BRAF-mutated melanoma cell lines consisting of four parental cell lines and their sub-lines with acquired resistance to PLX4032, PLX4720, vincristine (cytotoxic ABCB1 and ABCC1 substrate), or mitoxantrone (cytotoxic ABCG2 substrate), we detected enhanced ABC transporter expression in 4/4 cytotoxic ABC transporter substrate-resistant, 3/4 PLX4720-resistant, and 1/4 PLX4032-resistant melanoma cell lines. | 0.001085767 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24616537 | 673 | BRAF | umls:C0151779 | BeFree | A 49-year-old man initially diagnosed in 1995 with cutaneous melanoma presented to the authors' institution in 2009 with metastatic, BRAF V600E-mutant melanoma. | 0.016557954 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23603840 | 673 | BRAF | umls:C0025202 | BeFree | Dysfunctional oxidative phosphorylation makes malignant melanoma cells addicted to glycolysis driven by the (V600E)BRAF oncogene. | 0.430771416 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25117819 | 3569 | IL6 | umls:C0025202 | BeFree | In this study, we utilised genetically engineered melanoma cell lines and xenograft mouse models to investigate how BRAF(V600E) affected cytokine (IL-1β, IL-6, and IL-8) and matrix metalloproteinase-1 (MMP-1) expression in tumour cells and in human dermal fibroblasts. | 0.019673298 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24185007 | 5127 | CDK16 | umls:C0025202 | BeFree | Malignant melanomas harbouring point mutations (Val600Glu) in the serine/threonine-protein kinase BRAF (BRAF(V600E)) depend on RAF-MEK-ERK signalling for tumour cell growth. | 0.000271442 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 21793228 | 673 | BRAF | umls:C0025202 | BeFree | Next, of the 15 archived melanoma FNAs tested, BRAF mutations were observed in 8 (53%); 5 and 3 melanomas harbored the V600E and V600K mutation, respectively. | 0.430771416 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22113612 | 5894 | RAF1 | umls:C0025202 | BeFree | This tumour-specific inhibition of ERK signalling results in a broad therapeutic index and RAF inhibitors have remarkable clinical activity in patients with melanomas that harbour mutant BRAF(V600E). | 0.027706934 | 2011 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24942556 | 673 | BRAF | umls:C0025202 | BeFree | Both melanomas carried the V600E BRAF mutation. | 0.430771416 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25433395 | 673 | BRAF | umls:C0025202 | BeFree | Several transcription factors and signaling pathways involved in the regulation of MITF expression and/or activity such as the Wnt/β-catenin pathway are broadly utilized by various types of tumors, whereas others, e.g., BRAF(V600E)/ERK1/2 are more specific for melanoma. | 0.430771416 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 12619120 | 673 | BRAF | umls:C0025202 | BeFree | Peripheral blood DNA from two of these tumor-positive cases of sporadic melanoma were negative for the V599E BRAF mutation. | 0.430771416 | 2003 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23082737 | 673 | BRAF | umls:C0025202 | BeFree | The second is vemurafenib, an inhibitor that blocks the abnormal signaling for melanoma cellular growth in tumors that carry the BRAF(V600E) mutation. | 0.430771416 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25073704 | 3091 | HIF1A | umls:C0025202 | BeFree | We investigated ETV1 in 68 human melanoma brain metastases using FISH for ETV1 gene (located at chromosome 7p21) and centromere chromosome 7 and immunohistochemistry for ETV1, BRAF (V600E) , and ETV1/BRAF associated proteins pMSK1, pRSK1, pp38, pMEK1/2, MAPKAP kinase 2, CIC, HIF-1alpha and Ki-67. | 0.015501981 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23326492 | 673 | BRAF | umls:C0025202 | BeFree | Comparison of testing methods for the detection of BRAF V600E mutations in malignant melanoma: pre-approval validation study of the companion diagnostic test for vemurafenib. | 0.430771416 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25411185 | 673 | BRAF | umls:C0151779 | BeFree | Around 50% of cutaneous melanomas harbor the BRAF(V600E) mutation and can be treated with BRAF inhibitors. | 0.016557954 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24970815 | 22882 | ZHX2 | umls:C0025202 | BeFree | Inhibition of RAF/MEK/ERK signaling is beneficial for many patients with BRAF(V600E)-mutated melanoma. | 0.019543815 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24858900 | 673 | BRAF | umls:C0151779 | BeFree | The purpose of this study is to describe a case of concurrent medullary and papillary thyroid carcinoma (MTC and PTC) and cutaneous melanoma and to analyze BRAF(V600E) mutation in plasma and tissues. | 0.016557954 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25472943 | 5293 | PIK3CD | umls:C0025202 | BeFree | These results provide a conceptual framework for the combined deployment of BRAF(V600E) plus PI3K pathway-targeted inhibitors in the treatment of a subset of patients with BRAF-mutated melanoma. | 0.014114977 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23948972 | 673 | BRAF | umls:C0151779 | BeFree | We obtained blood and tissue samples from a patient diagnosed with a BRAF(V600E)-mutant cutaneous melanoma that was treated with vemurafenib and achieved a near-complete response. | 0.016557954 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25641840 | 673 | BRAF | umls:C0025202 | BeFree | Based on in silico screening results, a series of novel pyrazole derivatives has been designed, synthesized, and evaluated in vitro for their inhibitory activities against BRAF(V600E) melanoma cells. | 0.430771416 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25048604 | 4893 | NRAS | umls:C0025202 | BeFree | We investigated the associations between BRAF(V600E) and NRAS(Q61R) mutations and known risk factors, clinicopathologic characteristics and clinical outcomes of melanoma in a case series of primary invasive cutaneous melanoma from the Nurses' Health Study (NHS). | 0.235804412 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22549727 | 5291 | PIK3CB | umls:C0025202 | BeFree | The reactivation of senescence features and elimination of cells refractory to BRAF(V600E) inhibition by PI3K inhibition warrants further investigation into the therapeutic potential of simultaneously targeting these pathways in melanoma. | 0.014114977 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23288408 | 673 | BRAF | umls:C0025202 | BeFree | RAF inhibitors such as vemurafenib and dabrafenib block BRAF-mediated cell proliferation and achieve meaningful clinical benefit in the vast majority of patients with BRAF(V600E)-mutant melanoma. | 0.430771416 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24858900 | 5979 | RET | umls:C0151779 | BeFree | The purpose of this study is to describe a case of concurrent medullary and papillary thyroid carcinoma (MTC and PTC) and cutaneous melanoma and to analyze BRAF(V600E) mutation in plasma and tissues. | 0.000814326 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 26145173 | 3155 | HMGCL | umls:C0025202 | BeFree | HMGCL expression is upregulated in BRAF V600E-expressing human primary melanoma and hairy cell leukemia cells. | 0.000271442 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 12794760 | 673 | BRAF | umls:C0025202 | BeFree | We investigated the hypothesis that this common somatic BRAF mutation (V599E) would contribute to melanoma predisposition in familial and polygenic malignant melanoma if occurring as a germ-line mutation. | 0.430771416 | 2003 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24422853 | 673 | BRAF | umls:C0025202 | BeFree | Next-generation RAF inhibitors, such as PLX7904 (PB04), effectively inhibit RAF signaling in BRAF(V600E) melanoma cells without paradoxical effects in wild-type cells. | 0.430771416 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25319388 | 673 | BRAF | umls:C0025202 | BeFree | Clinical utility of a blood-based BRAF(V600E) mutation assay in melanoma. | 0.430771416 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22997239 | 8456 | FOXN1 | umls:C0025202 | BeFree | Here, CDK2/4 inhibition statistically significantly augmented the effects of BRAF(V600E)- or MEK-inhibitors on melanoma cell viability in vitro and growth in athymic nude Foxn1 ( nu ) mice (P = .03 when mean tumor volume at day 13 was compared for BRAF(V600E) inhibitor vs BRAF(V600E) inhibitor plus CDK2/4 inhibition; P = .02 when mean tumor volume was compared for MEK inhibitor vs MEK inhibitor plus CDK2/4 inhibition; P values were calculated by a two-sided Welch t test; n = 4-8 mice per group). | 0.000271442 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23341544 | 673 | BRAF | umls:C0025202 | BeFree | The clinical success of (V600E)BRAF inhibition in melanoma, coupled with the emergence of acquired resistance, underscores the importance of rigorously validating quantitative biomarkers of treatment response in this and similar settings. | 0.430771416 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 17409425 | 3091 | HIF1A | umls:C0025202 | BeFree | Our data show for the first time that BRAF(V600E) mutation increases HIF-1alpha expression and melanoma cell survival under hypoxic conditions and suggest that effects of the oncogenic V600E BRAF mutation may be partially mediated through the HIF-1alpha pathway. | 0.015501981 | 2007 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23051966 | 673 | BRAF | umls:C0025202 | BeFree | 29 (39·2%, 95% CI 28·0-51·2) of 74 patients with Val600Glu BRAF-mutant melanoma in cohort A achieved an overall intracranial response, as did 20 (30·8%, 19·9-43·4) of 65 in cohort B. | 0.430771416 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 21430780 | 673 | BRAF | umls:C0025202 | BeFree | When used alone or in combination with a specific inhibitor of the BRAF(V600E) oncogene, DHODH inhibition led to a marked decrease in melanoma growth both in vitro and in mouse xenograft studies. | 0.430771416 | 2011 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 20576522 | 673 | BRAF | umls:C0151779 | BeFree | We propose an assay based on the use of a locked nucleic acid probe and an allele specific primer to measure plasma-circulating BRAF(V600E) concentration in patients affected by cutaneous melanoma (n=55) and non-melanoma skin cancers (n=13) as well as 18 healthy subjects. | 0.016557954 | 2010 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23159108 | 673 | BRAF | umls:C0025202 | BeFree | Detection of BRAF p.V600E mutations in melanomas: comparison of four methods argues for sequential use of immunohistochemistry and pyrosequencing. | 0.430771416 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23802768 | 3569 | IL6 | umls:C0025202 | BeFree | Therefore, blockade of HGF-MET signalling might be a valid therapeutic strategy, in combination with BRAF inhibition, in BRAF(V600E/K) melanoma. | 0.019673298 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23074264 | 673 | BRAF | umls:C0025202 | BeFree | The BRAF inhibitor vemurafenib has become an important treatment option for melanoma patients, the majority of whom have a BRAF(V600E) mutation driving their malignancy. | 0.430771416 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24884503 | 5347 | PLK1 | umls:C0025202 | BeFree | Large-scale label-free comparative proteomics analysis of polo-like kinase 1 inhibition via the small-molecule inhibitor BI 6727 (Volasertib) in BRAF(V600E) mutant melanoma cells. | 0.001357209 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24919155 | 7157 | TP53 | umls:C0025202 | BeFree | Furthermore, we identify TP53/Trp53 as a UVR-target gene that cooperates with BRAF(V600E) to induce melanoma, providing molecular insight into how UVR accelerates melanomagenesis. | 0.226174462 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24858900 | 4489 | MT1A | umls:C0151779 | BeFree | The purpose of this study is to describe a case of concurrent medullary and papillary thyroid carcinoma (MTC and PTC) and cutaneous melanoma and to analyze BRAF(V600E) mutation in plasma and tissues. | 0.000271442 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24858900 | 673 | BRAF | umls:C0025202 | BeFree | BRAF(V600E) allele was detected in PTC and melanoma but not in MTC tissues. | 0.430771416 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25048604 | 673 | BRAF | umls:C0025202 | BeFree | BRAF(V600E) mutation may be associated with an unfavorable prognosis among melanoma patients. | 0.430771416 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23159116 | 673 | BRAF | umls:C0025202 | BeFree | V600E point mutation was identified in the BRAF gene in 3 intramucosal nevi and in 2 melanomas. | 0.430771416 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 21615881 | 673 | BRAF | umls:C0151779 | BeFree | The effect of NRAS mutations on the pathological features and clinical outcomes in patients with cutaneous melanoma was compared with that of tumors containing BRAF(V600E) mutations and tumors wild type for both (WT). | 0.016557954 | 2011 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24077403 | 5894 | RAF1 | umls:C0025202 | BeFree | Melanomas harboring the BRAF V600E mutation have demonstrated sensitivity to both RAF and MAPK/extracellular signal regulated kinase (ERK) inhibitors in vitro and in vivo. | 0.027706934 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 15208655 | 5594 | MAPK1 | umls:C0025202 | BeFree | We attempted to mediate RNA interference (RNAi) with HIV lentiviral vectors specific for either wild type or the most frequently mutated form of BRAF (V599E) in 10 melanoma cell lines, and found that RNAi inhibited the growth of most melanoma cell lines in vitro as well as in vivo, which was accompanied by decrease of both BRAF protein and ERK phosphorylation. | 0.029355448 | 2004 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23174497 | 673 | BRAF | umls:C0151779 | BeFree | The most common recurring mutation in cutaneous melanoma is the prooncogenic BRAF V600E mutation that drives melanoma cell proliferation. | 0.016557954 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23362240 | 673 | BRAF | umls:C0025202 | BeFree | The V600E mutation in the kinase BRAF is frequently detected in melanomas and results in constitutive activation of BRAF, which then promotes cell proliferation by the mitogen-activated protein kinase signaling pathway. | 0.430771416 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23349307 | 5609 | MAP2K7 | umls:C0025202 | BeFree | In solid tumors, BRAF-V600E is known to aberrantly activate the oncogenic MEK-ERK pathway, and targeted BRAF and/or MEK inhibitors have shown remarkable efficacy in clinical trials in melanoma patients. | 0.029315722 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23416158 | 673 | BRAF | umls:C0025202 | BeFree | BRAF is the most mutated gene in melanoma, with approximately 50% of patients containing V600E mutant protein. | 0.430771416 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23948972 | 5894 | RAF1 | umls:C0025202 | BeFree | To investigate the mechanism(s) of resistance to the RAF-inhibitor vemurafenib, we conducted a comprehensive analysis of the genetic alterations occurring in metastatic lesions from a patient with a BRAF(V600E)-mutant cutaneous melanoma who, after a first response, underwent subsequent rechallenge with this drug. | 0.027706934 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24185007 | 65061 | CDK15 | umls:C0025202 | BeFree | Malignant melanomas harbouring point mutations (Val600Glu) in the serine/threonine-protein kinase BRAF (BRAF(V600E)) depend on RAF-MEK-ERK signalling for tumour cell growth. | 0.000271442 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 15289355 | 673 | BRAF | umls:C0025202 | BeFree | The loss of the (V599E)BRAF genotype during progression from primary to metastatic melanoma in patients with (V599E)BRaf specific T-cell responses suggests an active immune selection of nonmutated melanoma clones by the tumor-bearing host. | 0.430771416 | 2004 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23690527 | 673 | BRAF | umls:C0025202 | BeFree | BRAF(V600E) mutations are frequent in melanomas originating from intermittently sun-exposed skin and also in common acquired melanocytic nevi, suggesting that BRAF mutation is an early event in melanocytic neoplasia. | 0.430771416 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23922205 | 4893 | NRAS | umls:C0025202 | BeFree | To determine whether specific mutations are clinically important to differentiate, tumor characteristics and clinical outcomes were compared among patients with advanced melanoma with 1) BRAF V600E versus V600K mutations and 2) NRAS exon 1 versus exon 2 mutations. | 0.235804412 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | NA | 673 | BRAF | umls:C0025202 | CLINVAR | NA | 0.430771416 | NA | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23489578 | 673 | BRAF | umls:C0025202 | BeFree | With the discovery of (V600E)BRAF in about 50% of cutaneous melanomas, there was an increased effort to find additional mutations. | 0.430771416 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24600206 | 673 | BRAF | umls:C0025202 | BeFree | Recombinant insulin attenuated dacarbazine-induced cytotoxicity in both wild-type BRAF and BRAF(V600E) melanoma cells, whereas it also reduced killing of BRAF(V600E) melanoma cells by PLX4720. | 0.430771416 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22235286 | 673 | BRAF | umls:C0025202 | BeFree | In conclusion, we used highly sensitive BRAF mutation detection methods and observed substantial evidence for heterogeneity of the BRAF(V600E) mutation within individual melanoma tumor specimens, and among multiple specimens from individual patients. | 0.430771416 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 20944096 | 673 | BRAF | umls:C0025202 | BeFree | Assessment of V600E mutation of BRAF gene and rate of cell proliferation using fine-needle aspirates from metastatic melanomas. | 0.430771416 | 2010 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 21635872 | 673 | BRAF | umls:C0025202 | BeFree | Acquired and intrinsic BRAF inhibitor resistance in BRAF V600E mutant melanoma. | 0.430771416 | 2011 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23704925 | 673 | BRAF | umls:C0025202 | BeFree | Besides confirming the presence of known melanoma driver mutations (BRAF(V600E), NRAS(Q61R) ), we identified novel mutated genes involved in signalling pathways crucial for melanoma pathogenesis and already addressed by current targeted therapies (such as MAPK and glutamate pathways). | 0.430771416 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24185007 | 5568 | PRKACG | umls:C0025202 | BeFree | Malignant melanomas harbouring point mutations (Val600Glu) in the serine/threonine-protein kinase BRAF (BRAF(V600E)) depend on RAF-MEK-ERK signalling for tumour cell growth. | 0.000271442 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 15641040 | 673 | BRAF | umls:C0025202 | BeFree | Absence of V599E BRAF mutations in desmoplastic melanomas. | 0.430771416 | 2005 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24508103 | 673 | BRAF | umls:C0025202 | BeFree | Safety and efficacy of vemurafenib in BRAF(V600E) and BRAF(V600K) mutation-positive melanoma (BRIM-3): extended follow-up of a phase 3, randomised, open-label study. | 0.430771416 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25358764 | 673 | BRAF | umls:C0025202 | BeFree | This combinatorial effect was recapitulated in human melanoma-derived cell lines and was restricted to cancers bearing a BRAF(V600E) mutation. | 0.430771416 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 19936769 | 673 | BRAF | umls:C0025202 | BeFree | One melanoma carried a BRAF point mutation that is frequently found in cutaneous melanomas (c.1799 T>A, p.V600E), raising the question whether this is a metastatic rather than a primary tumor. | 0.430771416 | 2010 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24071017 | 673 | BRAF | umls:C0025202 | BeFree | Comparison of 2 monoclonal antibodies for immunohistochemical detection of BRAF V600E mutation in malignant melanoma, pulmonary carcinoma, gastrointestinal carcinoma, thyroid carcinoma, and gliomas. | 0.430771416 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25117819 | 3576 | CXCL8 | umls:C0025202 | BeFree | In this study, we utilised genetically engineered melanoma cell lines and xenograft mouse models to investigate how BRAF(V600E) affected cytokine (IL-1β, IL-6, and IL-8) and matrix metalloproteinase-1 (MMP-1) expression in tumour cells and in human dermal fibroblasts. | 0.032470793 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 12881714 | 673 | BRAF | umls:C0025202 | BeFree | The prevalence of the BRAF(V599E) mutation in PTC is the highest reported to date in human carcinomas, being only exceeded by melanoma. | 0.430771416 | 2003 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23802768 | 79811 | SLTM | umls:C0025202 | BeFree | Impact of MET expression on outcome in BRAF(V600E/K) advanced melanoma. | 0.003528744 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 20818844 | 673 | BRAF | umls:C0025202 | BeFree | In the dose-escalation cohort, among the 16 patients with melanoma whose tumors carried the V600E BRAF mutation and who were receiving 240 mg or more of PLX4032 twice daily, 10 had a partial response and 1 had a complete response. | 0.430771416 | 2010 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23174497 | 5894 | RAF1 | umls:C0025202 | BeFree | The development of RAF inhibitors targeted against BRAF V600E mutant melanoma cells has revolutionized the treatment of MM. | 0.027706934 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 16123397 | 673 | BRAF | umls:C0025202 | BeFree | The T1799A BRAF mutation was identified in two of the five (40%) conjunctival melanomas. | 0.430771416 | 2005 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22809251 | 673 | BRAF | umls:C0025202 | BeFree | Among the 20 melanomas with completed BRAF-sequencing analysis, 6 (30%) harbored a mutation, of which 5 (83%) had a V600E mutation and 1 (17%) had a V600R mutation. | 0.430771416 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23463675 | 673 | BRAF | umls:C0025202 | BeFree | The somatic affairs of BRAF: tailored therapies for advanced malignant melanoma and orphan non-V600E (V600R-M) mutations. | 0.430771416 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 19659611 | 673 | BRAF | umls:C0025202 | BeFree | Simultaneous suppression of MITF and BRAF V600E enhanced inhibition of melanoma cell proliferation. | 0.430771416 | 2009 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24756795 | 5894 | RAF1 | umls:C0025202 | BeFree | The activating BRAF mutation V600E and related mutations in this codon are most important for the activation of the RAS/RAF/MEK/ERK mitogen-activated protein kinase (MAPK) signalling pathway in melanoma. | 0.027706934 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23651150 | 673 | BRAF | umls:C0025202 | BeFree | Detection of BRAF p.V600E Mutations in Melanoma by Immunohistochemistry Has a Good Interobserver Reproducibility. | 0.430771416 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25654738 | 5609 | MAP2K7 | umls:C0025202 | BeFree | In recent years, intracellular signal transduction via RAS-RAF-MEK-ERK has been successfully targeted in new treatment approaches for melanoma using small molecule inhibitors against activated BRAF (V600E mutation) and activated MEK1/2. | 0.029315722 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 20149136 | 4893 | NRAS | umls:C0025202 | BeFree | Our studies with melanoma tumor cells that are BRAF(V600E/K) and BRAF(WT) showed that, paradoxically, while PLX4032 inhibited ERK1/2 in the highly sensitive BRAF(V600E/K), it activated the pathway in the resistant BRAF(WT) cells, via RAF1 activation, regardless of the status of mutations in NRAS or PTEN. | 0.235804412 | 2010 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23812671 | 673 | BRAF | umls:C0025202 | BeFree | Dual targeting of BRAF(V600E) and Hdm2 with vemurafenib and Nt-3, respectively, synergistically induced apoptosis and suppressed melanoma viability in vitro and tumor growth in vivo. | 0.430771416 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22742884 | 637 | BID | umls:C0025202 | BeFree | In a Phase I study (BRIM-1), a 960-mg BID dose achieved an objective response rate of 81% among 32 patients with melanoma who carried a BRAF V600E mutation. | 0.002995792 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24185007 | 5609 | MAP2K7 | umls:C0025202 | BeFree | RAF and MEK inhibitors show remarkable clinical efficacy in BRAF(V600E) melanoma; however, resistance to these agents remains a formidable challenge. | 0.029315722 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24362263 | 673 | BRAF | umls:C0025202 | BeFree | In contrast to previous work with BRAF(V600E) in melanoma cells, feedback inhibition following BCR-ABL TKI treatment is markedly prolonged, extending beyond the time required to initiate apoptosis. | 0.430771416 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24756795 | 2048 | EPHB2 | umls:C0025202 | BeFree | The activating BRAF mutation V600E and related mutations in this codon are most important for the activation of the RAS/RAF/MEK/ERK mitogen-activated protein kinase (MAPK) signalling pathway in melanoma. | 0.015472187 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 19679016 | 2475 | MTOR | umls:C0025202 | BeFree | One such target is the V600E gain-of-function BRAF mutation found in 60% of melanomas; other mutations or molecular alterations cooperate with V600E BRAF, particularly those that cause loss of function of PTEN, upstream of Akt and mammalian target of rapamycin. | 0.005167327 | 2009 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22361686 | 673 | BRAF | umls:C0025202 | BeFree | Activating mutations in the BRAF serine/threonine kinase are found in more than 70% of human melanomas, >90% of which are BRAF(V600E). | 0.430771416 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23382536 | 673 | BRAF | umls:C0025202 | BeFree | At clinically informative sites, we identified seven low-frequency point mutations (0.2%-4.7%), including BRAF p.V600E (melanoma, 0.2% alternate allele frequency), KRAS p.G12V (lung, 0.6%), JAK2 p.V617F (melanoma, colon, two lung, 0.3%-1.4%), and NRAS p.Q61R (colon, 4.7%). | 0.430771416 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23935925 | 6469 | SHH | umls:C0025202 | BeFree | Finally, we conclude that inhibition of SHH-GLI signaling pathway in human melanoma by the specific smoothened inhibitor NVP-LDE225 could have potential therapeutic application in human melanoma even in the absence of BRAF(V600E) mutation and warrants further investigations. | 0.001357209 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22997239 | 1017 | CDK2 | umls:C0025202 | BeFree | Here, CDK2/4 inhibition statistically significantly augmented the effects of BRAF(V600E)- or MEK-inhibitors on melanoma cell viability in vitro and growth in athymic nude Foxn1 ( nu ) mice (P = .03 when mean tumor volume at day 13 was compared for BRAF(V600E) inhibitor vs BRAF(V600E) inhibitor plus CDK2/4 inhibition; P = .02 when mean tumor volume was compared for MEK inhibitor vs MEK inhibitor plus CDK2/4 inhibition; P values were calculated by a two-sided Welch t test; n = 4-8 mice per group). | 0.136034933 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22588873 | 673 | BRAF | umls:C0025202 | BeFree | In this issue of Cancer Discovery, Shi and colleagues add further insight into the role of exon 3 MEK1 mutations in BRAF inhibitor resistance by demonstrating the presence of P124SMEK1 and I111SMEK1 mutations concurrently with V600E/KBRAF mutations at baseline in 16% of melanoma specimens. | 0.430771416 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24684646 | 57379 | AICDA | umls:C0025202 | BeFree | Expression of AID in malignant melanoma with BRAF(V600E) mutation. | 0.000271442 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22742884 | 673 | BRAF | umls:C0025202 | BeFree | Vemurafenib in patients with BRAF V600E mutation-positive advanced melanoma. | 0.430771416 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25744437 | 673 | BRAF | umls:C0025202 | BeFree | In this review, clinicopathologic characteristics associated with BRAF-mutant tumors will be highlighted, and the prognostic and predictive implications of a BRAF V600E mutation will be discussed with a focus on melanoma, thyroid carcinoma and colorectal carcinoma. | 0.430771416 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22997239 | 673 | BRAF | umls:C0025202 | BeFree | Here, CDK2/4 inhibition statistically significantly augmented the effects of BRAF(V600E)- or MEK-inhibitors on melanoma cell viability in vitro and growth in athymic nude Foxn1 ( nu ) mice (P = .03 when mean tumor volume at day 13 was compared for BRAF(V600E) inhibitor vs BRAF(V600E) inhibitor plus CDK2/4 inhibition; P = .02 when mean tumor volume was compared for MEK inhibitor vs MEK inhibitor plus CDK2/4 inhibition; P values were calculated by a two-sided Welch t test; n = 4-8 mice per group). | 0.430771416 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24201813 | 673 | BRAF | umls:C0025202 | BeFree | AEBP1 upregulation confers acquired resistance to BRAF (V600E) inhibition in melanoma. | 0.430771416 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 20149136 | 5728 | PTEN | umls:C0025202 | BeFree | Our studies with melanoma tumor cells that are BRAF(V600E/K) and BRAF(WT) showed that, paradoxically, while PLX4032 inhibited ERK1/2 in the highly sensitive BRAF(V600E/K), it activated the pathway in the resistant BRAF(WT) cells, via RAF1 activation, regardless of the status of mutations in NRAS or PTEN. | 0.272069867 | 2010 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 15208655 | 2048 | EPHB2 | umls:C0025202 | BeFree | We attempted to mediate RNA interference (RNAi) with HIV lentiviral vectors specific for either wild type or the most frequently mutated form of BRAF (V599E) in 10 melanoma cell lines, and found that RNAi inhibited the growth of most melanoma cell lines in vitro as well as in vivo, which was accompanied by decrease of both BRAF protein and ERK phosphorylation. | 0.015472187 | 2004 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 18679422 | 4893 | NRAS | umls:C0025202 | BeFree | Our data suggest that one of the major functions of C-MYC overexpression in melanoma progression is to continuous suppress BRAF(V600E)- or NRAS(Q61R)-dependent senescence programs. | 0.235804412 | 2008 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25433395 | 5595 | MAPK3 | umls:C0025202 | BeFree | Several transcription factors and signaling pathways involved in the regulation of MITF expression and/or activity such as the Wnt/β-catenin pathway are broadly utilized by various types of tumors, whereas others, e.g., BRAF(V600E)/ERK1/2 are more specific for melanoma. | 0.006524536 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24448821 | 673 | BRAF | umls:C0025202 | BeFree | We found that the acquired MEK1-C121S mutation in BRAF-V600E mutant melanoma conferred resistance to both vemurafenib and selumetinib but not E6201. | 0.430771416 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 19079609 | 7299 | TYR | umls:C0025202 | BeFree | In the course of modeling malignant melanoma in a tyrosinase promoter transgenic system, we developed a genetically-engineered mouse (GEM) model of invasive prostate cancers, whereby an activating mutation of BRAF(V600E)--a mutation found in approximately 10% of human prostate tumors--was targeted to the epithelial compartment of the prostate gland on the background of Ink4a/Arf deficiency. | 0.342096784 | 2008 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23134356 | 673 | BRAF | umls:C0025202 | BeFree | Vemurafenib, a selective RAF inhibitor, extends survival among patients with BRAF V600E-mutant melanoma. | 0.430771416 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 19233913 | 4102 | MAGEA3 | umls:C0025202 | BeFree | Testing for the expression of a melanoma-associated gene panel (MLANA, MAGEA3, and MITF) with qRT-PCR and for the presence of BRAFmt (a BRAF gene variant encoding the V600E mutant protein) verified the beads-isolated CTCs to be melanoma cells. | 0.014144772 | 2009 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25073704 | 9261 | MAPKAPK2 | umls:C0025202 | BeFree | We investigated ETV1 in 68 human melanoma brain metastases using FISH for ETV1 gene (located at chromosome 7p21) and centromere chromosome 7 and immunohistochemistry for ETV1, BRAF (V600E) , and ETV1/BRAF associated proteins pMSK1, pRSK1, pp38, pMEK1/2, MAPKAP kinase 2, CIC, HIF-1alpha and Ki-67. | 0.000271442 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24917033 | 673 | BRAF | umls:C0025202 | BeFree | Validation of the VE1 immunostain for the BRAF V600E mutation in melanoma. | 0.430771416 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 20959475 | 673 | BRAF | umls:C0025202 | BeFree | Here, we show a role for FOXO4 in mediating senescence by the human BRAF(V600E) oncogene, which arises commonly in melanoma. | 0.430771416 | 2010 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25890285 | 673 | BRAF | umls:C0025202 | BeFree | Further analyses suggested a complex mechanism driven by mutation BRAF (V600E) on melanoma tumorigenesis that disturbs specific cancer-related genes, pathways, and methylation modifications. | 0.430771416 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 18462259 | 673 | BRAF | umls:C0025202 | BeFree | Dideoxy sequencing is the most commonly used method for detecting the BRAF(V600E) mutation in thyroid cancer and melanoma. | 0.430771416 | 2009 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23744355 | 836 | CASP3 | umls:C0025202 | BeFree | Significantly, SAHA and the clinically available BRAF inhibitor vemurafenib cooperatively inhibited BRAF(V600E) melanoma xenograft growth in a mouse model even when caspase-3 was inhibited. | 0.010334654 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24185007 | 22882 | ZHX2 | umls:C0025202 | BeFree | RAF and MEK inhibitors show remarkable clinical efficacy in BRAF(V600E) melanoma; however, resistance to these agents remains a formidable challenge. | 0.019543815 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25472943 | 5291 | PIK3CB | umls:C0025202 | BeFree | These results provide a conceptual framework for the combined deployment of BRAF(V600E) plus PI3K pathway-targeted inhibitors in the treatment of a subset of patients with BRAF-mutated melanoma. | 0.014114977 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24531699 | 673 | BRAF | umls:C0025202 | BeFree | The BRAF(V600E) melanoma mutation, like the KIT exon 11 mutation in GIST, has the highest response to therapy. | 0.430771416 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23802768 | 3082 | HGF | umls:C0025202 | BeFree | Therefore, blockade of HGF-MET signalling might be a valid therapeutic strategy, in combination with BRAF inhibition, in BRAF(V600E/K) melanoma. | 0.014687656 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25351955 | 673 | BRAF | umls:C0025202 | BeFree | Overall, this study supports the idea that additional NK cell-based immunotherapy (by checkpoint blockade or agonists or cytokines) may combine well with BRAF(V600E) inhibitor therapy to promote more durable responses in melanoma. | 0.430771416 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24352080 | 673 | BRAF | umls:C0025202 | BeFree | reveal in vivo proof of MITF directly regulating tumor development in BRAF(V600E) melanomas. | 0.430771416 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23349307 | 673 | BRAF | umls:C0025202 | BeFree | In solid tumors, BRAF-V600E is known to aberrantly activate the oncogenic MEK-ERK pathway, and targeted BRAF and/or MEK inhibitors have shown remarkable efficacy in clinical trials in melanoma patients. | 0.430771416 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23584600 | 10849 | CD3EAP | umls:C0025202 | BeFree | CAST-PCR gave rapid and accurate results for the common V600E and V600K mutations, however additional assays are required to detect rarer BRAF mutation types found in 3-4% of melanomas. | 0.000271442 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25848750 | 673 | BRAF | umls:C0025202 | BeFree | SB mutagenesis has thus helped to catalog the cooperative molecular mechanisms driving BRAF(V600E) melanoma and discover new genes with potential clinical importance in human melanoma. | 0.430771416 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 26218930 | 673 | BRAF | umls:C0025202 | BeFree | The BRAF V600E genotype and an absence of primary melanoma ulceration were also independently associated with longer PFS but not OS. | 0.430771416 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 21962474 | 673 | BRAF | umls:C0025202 | BeFree | In this review, the current state of targeted therapy for melanoma is discussed, including the potent BRAF(V600E) inhibitor vemurafenib. | 0.430771416 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22588879 | 673 | BRAF | umls:C0025202 | BeFree | Preexisting MEK1 exon 3 mutations in V600E/KBRAF melanomas do not confer resistance to BRAF inhibitors. | 0.430771416 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24879157 | 673 | BRAF | umls:C0025202 | BeFree | Development of potent autophagy inhibitors that sensitize oncogenic BRAF V600E mutant melanoma tumor cells to vemurafenib. | 0.430771416 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23948972 | 5894 | RAF1 | umls:C0151779 | BeFree | To investigate the mechanism(s) of resistance to the RAF-inhibitor vemurafenib, we conducted a comprehensive analysis of the genetic alterations occurring in metastatic lesions from a patient with a BRAF(V600E)-mutant cutaneous melanoma who, after a first response, underwent subsequent rechallenge with this drug. | 0.001085767 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23579220 | 673 | BRAF | umls:C0025202 | BeFree | The detection of V600E BRAF mutation in melanoma is fundamental since here BRAF inhibitors represent an effective treatment. | 0.430771416 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24535907 | 673 | BRAF | umls:C0151779 | BeFree | Analysis of the BRAF V600E mutation in primary cutaneous melanoma. | 0.016557954 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23306863 | 5609 | MAP2K7 | umls:C0025202 | BeFree | Inhibition of both BRAF and MEK in BRAF(V600E) mutant melanoma restores compromised dendritic cell (DC) function while having differential direct effects on DC properties. | 0.029315722 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25615552 | 673 | BRAF | umls:C0025202 | BeFree | Moreover, in BRAF(V600E) melanoma cell lines, vemurafenib inhibits 4E-BP1 phosphorylation, thus promoting its binding to eIF4E. | 0.430771416 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25654738 | 673 | BRAF | umls:C0025202 | BeFree | In recent years, intracellular signal transduction via RAS-RAF-MEK-ERK has been successfully targeted in new treatment approaches for melanoma using small molecule inhibitors against activated BRAF (V600E mutation) and activated MEK1/2. | 0.430771416 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24077403 | 22882 | ZHX2 | umls:C0025202 | BeFree | Melanomas harboring the BRAF V600E mutation have demonstrated sensitivity to both RAF and MAPK/extracellular signal regulated kinase (ERK) inhibitors in vitro and in vivo. | 0.019543815 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24531984 | 8140 | SLC7A5 | umls:C0025202 | BeFree | In this study, we show that the expression of LAT1 and ASCT2 is significantly increased in human melanoma samples and is present in both BRAF(WT) (C8161 and WM852) and BRAF(V600E) mutant (1205Lu and 451Lu) melanoma cell lines. | 0.000271442 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24201813 | 165 | AEBP1 | umls:C0025202 | BeFree | AEBP1 upregulation confers acquired resistance to BRAF (V600E) inhibition in melanoma. | 0.000271442 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25063807 | 4893 | NRAS | umls:C0025202 | BeFree | They also suggest that targeting the MAPKs and/or NRAS may provide a strategy to mitigate such resistance in V600E BRAF+ve melanoma. | 0.235804412 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25654738 | 5594 | MAPK1 | umls:C0025202 | BeFree | In recent years, intracellular signal transduction via RAS-RAF-MEK-ERK has been successfully targeted in new treatment approaches for melanoma using small molecule inhibitors against activated BRAF (V600E mutation) and activated MEK1/2. | 0.029355448 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22113612 | 22882 | ZHX2 | umls:C0025202 | BeFree | This tumour-specific inhibition of ERK signalling results in a broad therapeutic index and RAF inhibitors have remarkable clinical activity in patients with melanomas that harbour mutant BRAF(V600E). | 0.019543815 | 2011 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25034364 | 673 | BRAF | umls:C0025202 | BeFree | RAF is among the most frequently mutated kinases, where BRAF V600E mutation occurs in most hairy cell leukemias (HCL) and half of malignant melanomas. | 0.430771416 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23584600 | 26059 | ERC2 | umls:C0025202 | BeFree | CAST-PCR gave rapid and accurate results for the common V600E and V600K mutations, however additional assays are required to detect rarer BRAF mutation types found in 3-4% of melanomas. | 0.000271442 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23087082 | 673 | BRAF | umls:C0025202 | BeFree | These results suggest that combination of selective BRAF inhibitors with ABT-737 or the related orally available compound ABT-263 may increase the degree and rate of responses in previously untreated patients with V600E melanoma but not in those with acquired resistance to these agents. | 0.430771416 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25117819 | 3553 | IL1B | umls:C0025202 | BeFree | In this study, we utilised genetically engineered melanoma cell lines and xenograft mouse models to investigate how BRAF(V600E) affected cytokine (IL-1β, IL-6, and IL-8) and matrix metalloproteinase-1 (MMP-1) expression in tumour cells and in human dermal fibroblasts. | 0.015330228 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25048604 | 673 | BRAF | umls:C0151779 | BeFree | BRAF(V600E) mutations in primary cutaneous melanomas were associated with residence in locations with medium and high UV indices in mid-life. | 0.016557954 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22241959 | 673 | BRAF | umls:C0025202 | BeFree | Cell sensitivity to PLX4032 was dependent on BRAF(V600E) and independent from other gene alterations that commonly occur in melanoma such as PTEN loss, BRAF, and MITF gene amplification. | 0.430771416 | 2011 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24858900 | 5726 | TAS2R38 | umls:C0151779 | BeFree | The purpose of this study is to describe a case of concurrent medullary and papillary thyroid carcinoma (MTC and PTC) and cutaneous melanoma and to analyze BRAF(V600E) mutation in plasma and tissues. | 0.000271442 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 16801397 | 5609 | MAP2K7 | umls:C0025202 | BeFree | MEK inhibitor U0126 or RNA interference (RNAi) for BRAF(V600E) decreased production of the immunosuppressive soluble factors interleukin (IL)-10, VEGF, or IL-6 from melanoma cells to levels comparable to those after signal transducer and activator of transcription (STAT)3 inactivation. | 0.029315722 | 2006 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25117819 | 4312 | MMP1 | umls:C0025202 | BeFree | Our findings highlight the role of BRAF(V600E) in activating the stroma and suggest a mechanistic link between BRAF(V600E) and MMP-1 in mediating melanoma progression and in activating adjacent fibroblasts in the tumour microenvironment. | 0.017683448 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25300205 | 673 | BRAF | umls:C0025202 | BeFree | In a panel of 16 V600E BRAF-mutated melanoma cell lines consisting of four parental cell lines and their sub-lines with acquired resistance to PLX4032, PLX4720, vincristine (cytotoxic ABCB1 and ABCC1 substrate), or mitoxantrone (cytotoxic ABCG2 substrate), we detected enhanced ABC transporter expression in 4/4 cytotoxic ABC transporter substrate-resistant, 3/4 PLX4720-resistant, and 1/4 PLX4032-resistant melanoma cell lines. | 0.430771416 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22549727 | 5293 | PIK3CD | umls:C0025202 | BeFree | The reactivation of senescence features and elimination of cells refractory to BRAF(V600E) inhibition by PI3K inhibition warrants further investigation into the therapeutic potential of simultaneously targeting these pathways in melanoma. | 0.014114977 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23403819 | 673 | BRAF | umls:C0025202 | BeFree | To examine the association between level and patterns of baseline intra-tumoural BRAF(V600E) protein expression and clinical outcome of BRAF(V600E) melanoma patients treated with selective BRAF inhibitors. | 0.430771416 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 18715233 | 10018 | BCL2L11 | umls:C0025202 | BeFree | Oncogenic BRAF(V600E) inhibits BIM expression to promote melanoma cell survival. | 0.014978961 | 2008 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 21527556 | 673 | BRAF | umls:C0025202 | BeFree | In order to better understand the mechanistic basis for this resistance, we conducted a RNAi-based screen to identify genes that mediated chemoresistance to the RAF kinase inhibitor RAF265 in a BRAF (V600E) mutant melanoma cell line that is resistant to this drug. | 0.430771416 | 2011 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 18790768 | 673 | BRAF | umls:C0025202 | BeFree | Increased cyclin D1 expression can mediate BRAF inhibitor resistance in BRAF V600E-mutated melanomas. | 0.430771416 | 2008 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24858900 | 5726 | TAS2R38 | umls:C0025202 | BeFree | BRAF(V600E) allele was detected in PTC and melanoma but not in MTC tissues. | 0.000542884 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22791410 | 4602 | MYB | umls:C0025202 | BeFree | We found that all primary sinonasal mucosal melanomas lack BRAF V600E mutation; in addition, they are characterized by somatic mutations of NRAS (22%) and KIT (12.5%), together with amplification of RREB1 (100%) and loss of MYB (76%). | 0.001900093 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22382362 | 673 | BRAF | umls:C0025202 | BeFree | Assessment of association between BRAF-V600E mutation status in melanomas and clinical response to ipilimumab. | 0.430771416 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25654738 | 22882 | ZHX2 | umls:C0025202 | BeFree | In recent years, intracellular signal transduction via RAS-RAF-MEK-ERK has been successfully targeted in new treatment approaches for melanoma using small molecule inhibitors against activated BRAF (V600E mutation) and activated MEK1/2. | 0.019543815 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23406774 | 673 | BRAF | umls:C0025202 | BeFree | The V600E mutation of BRAF was initially described in 2002 and has been found at particularly high frequency in melanoma and certain subtypes of colorectal cancer. | 0.430771416 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 18985043 | 673 | BRAF | umls:C0025202 | BeFree | In conclusion, the T1799A BRAF mutation is present in a proportion of posterior uveal melanomas but within these tumours the distribution of the mutation is heterogeneous. | 0.430771416 | 2008 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24858900 | 4914 | NTRK1 | umls:C0025202 | BeFree | BRAF(V600E) allele was detected in PTC and melanoma but not in MTC tissues. | 0.006263026 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22553342 | 8743 | TNFSF10 | umls:C0025202 | BeFree | Apollon modulation and melanoma apoptosis were evaluated by Western blot and/or flow cytometry in response to cytotoxic drugs, mitogen-activated protein/extracellular signal-regulated kinase (MEK)-, BRAF(V600E)-, and mTOR-specific inhibitors, TRAIL and anti-HLA class II monoclonal antibodies (mAb). | 0.016316307 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25472943 | 5290 | PIK3CA | umls:C0025202 | BeFree | These results provide a conceptual framework for the combined deployment of BRAF(V600E) plus PI3K pathway-targeted inhibitors in the treatment of a subset of patients with BRAF-mutated melanoma. | 0.014657861 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23935925 | 2735 | GLI1 | umls:C0025202 | BeFree | Pharmacologic inhibition of BRAF(V600E) in human melanoma cell lines resulted in decreased expression of GLI1 thus demonstrating interaction of SHH-GLI and MAPK pathways. | 0.001357209 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 15313890 | 10253 | SPRY2 | umls:C0025202 | BeFree | SPRY2 is an inhibitor of the ras/extracellular signal-regulated kinase pathway in melanocytes and melanoma cells with wild-type BRAF but not with the V599E mutant. | 0.002995792 | 2004 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24185007 | 150094 | SIK1 | umls:C0025202 | BeFree | Malignant melanomas harbouring point mutations (Val600Glu) in the serine/threonine-protein kinase BRAF (BRAF(V600E)) depend on RAF-MEK-ERK signalling for tumour cell growth. | 0.000271442 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24919155 | 673 | BRAF | umls:C0025202 | BeFree | Furthermore, we identify TP53/Trp53 as a UVR-target gene that cooperates with BRAF(V600E) to induce melanoma, providing molecular insight into how UVR accelerates melanomagenesis. | 0.430771416 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25980594 | 673 | BRAF | umls:C0025202 | BeFree | Long-term outcome in BRAF(V600E) melanoma patients treated with vemurafenib: Patterns of disease progression and clinical management of limited progression. | 0.430771416 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24352648 | 5609 | MAP2K7 | umls:C0025202 | BeFree | This focus has been justified by the recent success of BRAF and MEK inhibitors in prolonging the lives of patients with BRAF(V600E/K)-mutant melanoma. | 0.029315722 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 15588860 | 673 | BRAF | umls:C0025202 | BeFree | Both conventional melanomas had the exon 15 T1796A (V599E) mutation, but none of the MMSP was found to harbor any mutation in exon 11 or 15 of the BRAF gene. | 0.430771416 | 2005 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 18790768 | 595 | CCND1 | umls:C0025202 | BeFree | Increased cyclin D1 expression can mediate BRAF inhibitor resistance in BRAF V600E-mutated melanomas. | 0.021202261 | 2008 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25359093 | 673 | BRAF | umls:C0025202 | BeFree | Immunohistochemical detection of the BRAF V600E mutation in melanoma patients with monoclonal antibody VE1. | 0.430771416 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22067401 | 673 | BRAF | umls:C0025202 | BeFree | RAF inhibitors are effective against melanomas with BRAF V600E mutations but may induce keratoacanthomas (KAs) and cutaneous squamous cell carcinomas (cSCCs). | 0.430771416 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25300205 | 5243 | ABCB1 | umls:C0025202 | BeFree | In a panel of 16 V600E BRAF-mutated melanoma cell lines consisting of four parental cell lines and their sub-lines with acquired resistance to PLX4032, PLX4720, vincristine (cytotoxic ABCB1 and ABCC1 substrate), or mitoxantrone (cytotoxic ABCG2 substrate), we detected enhanced ABC transporter expression in 4/4 cytotoxic ABC transporter substrate-resistant, 3/4 PLX4720-resistant, and 1/4 PLX4032-resistant melanoma cell lines. | 0.011701795 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24259661 | 9547 | CXCL14 | umls:C0025202 | BeFree | BRAF(V600E) mutation confers constitutive BRAK kinase activation in melanoma cells, promoting tumor growth. | 0.000271442 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24185007 | 102724428 | LOC102724428 | umls:C0025202 | BeFree | Malignant melanomas harbouring point mutations (Val600Glu) in the serine/threonine-protein kinase BRAF (BRAF(V600E)) depend on RAF-MEK-ERK signalling for tumour cell growth. | 0.000271442 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24858900 | 4914 | NTRK1 | umls:C0151779 | BeFree | The purpose of this study is to describe a case of concurrent medullary and papillary thyroid carcinoma (MTC and PTC) and cutaneous melanoma and to analyze BRAF(V600E) mutation in plasma and tissues. | 0.000271442 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 18715233 | 673 | BRAF | umls:C0025202 | BeFree | Oncogenic BRAF(V600E) inhibits BIM expression to promote melanoma cell survival. | 0.430771416 | 2008 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25073704 | 2115 | ETV1 | umls:C0025202 | BeFree | MAP kinase activity supported by BRAF (V600E) mutation rather than gene amplification is associated with ETV1 expression in melanoma brain metastases. | 0.000814326 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22261672 | 673 | BRAF | umls:C0025202 | BeFree | Of the drugs tested to date in patients with metastatic melanoma, those that have yielded the best results are V600E BRAF inhibitors in melanomas carrying the V600E mutation; c-kit tyrosine kinase activity inhibitors in melanomas carrying c-kit mutations; and anti-cytotoxic T lymphocyte antigen 4 (CTLA-4) antibodies, which block the mechanisms involved in immune tolerance. | 0.430771416 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 16052531 | 6502 | SKP2 | umls:C0025202 | BeFree | Effective inhibition of cell growth and invasion of melanoma by combined suppression of BRAF (V599E) and Skp2 with lentiviral RNAi. | 0.01225461 | 2006 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22355009 | 673 | BRAF | umls:C0025202 | BeFree | Although pharmacologic inhibition of BRAF(V600E) in melanoma patients, which is linked to immune suppression, results in an initial response rate, these responses are typically of limited duration. | 0.430771416 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 21430779 | 673 | BRAF | umls:C0025202 | BeFree | Here we have used a zebrafish melanoma model to test genes in a recurrently amplified region of chromosome 1 for the ability to cooperate with BRAF(V600E) and accelerate melanoma. | 0.430771416 | 2011 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22045652 | 2130 | EWSR1 | umls:C0025202 | BeFree | Analysis of frozen and fixed material from 21 CCS and 21 MM showed the presence of the V600E BRAF mutation in 2/12 EWSR1+ and 3/9 EWSR1- CCS and 9/21 MM and demonstrated a significant (P < 0.001) correlation between the gain of chromosomes 22 and 8 and EWSR1- CCS. | 0.002171535 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23624923 | 6739 | SSAV1 | umls:C0025202 | BeFree | Preclinical studies revealed that GLV-1h68 combined with radiotherapy significantly increased cytotoxicity and apoptosis relative to either single agent in (V600D)BRAF/(V600E)BRAF mutant melanoma in vitro and in vivo. | 0.000271442 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24858900 | 2158 | F9 | umls:C0025202 | BeFree | BRAF(V600E) allele was detected in PTC and melanoma but not in MTC tissues. | 0.000814326 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24535907 | 673 | BRAF | umls:C0025202 | BeFree | Analysis of the BRAF V600E mutation in primary cutaneous melanoma. | 0.430771416 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22189819 | 673 | BRAF | umls:C0025202 | BeFree | The BRAF(V600E) causes widespread alterations in gene methylation in the genome of melanoma cells. | 0.430771416 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 19351826 | 673 | BRAF | umls:C0025202 | BeFree | In the current review, we discuss how knowledge about these new melanoma subgroups may lead to improved strategies for treating melanomas harboring BRAF V600E mutations. | 0.430771416 | 2009 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23802768 | 4233 | MET | umls:C0025202 | BeFree | Impact of MET expression on outcome in BRAF(V600E/K) advanced melanoma. | 0.003800186 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25073704 | 27352 | SGSM3 | umls:C0025202 | BeFree | MAP kinase activity supported by BRAF (V600E) mutation rather than gene amplification is associated with ETV1 expression in melanoma brain metastases. | 0.005157396 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 20425073 | 2011 | MARK2 | umls:C0025202 | BeFree | In 2002, a mutation at the V600E amino acid of the BRAF serine/threonine kinase was described as present in over 50% of melanomas. | 0.010606096 | 2010 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 21570823 | 673 | BRAF | umls:C0025202 | BeFree | In a patient (whose melanoma showed to bear the BRAF V600E mutation in blood, but not at tissue level) our analysis showed that blood samples with PCR evidence for CMC were heterogeneous for BRAF status under limiting-dilution conditions, suggestive of heterogeneity of CMC. | 0.430771416 | 2011 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24425783 | 5291 | PIK3CB | umls:C0025202 | BeFree | Blockade of BRAF(V600E) → MEK1/2 → ERK1/2 or class I PI3K inhibited melanoma proliferation, whereas inhibition of AKT had only modest effects, even in cells with mutated or amplified AKT. | 0.014114977 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23306863 | 673 | BRAF | umls:C0025202 | BeFree | Inhibition of both BRAF and MEK in BRAF(V600E) mutant melanoma restores compromised dendritic cell (DC) function while having differential direct effects on DC properties. | 0.430771416 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 16052531 | 1027 | CDKN1B | umls:C0025202 | BeFree | We applied human immunodeficiency virus (HIV) lentivirus-mediated RNA interference (RNAi) to melanoma cells with the BRAF mutation (V599E) and overexpressed Skp-2 and found that the simultaneous suppression of these activated oncogenes resulted in the effective inhibition of in vitro cell growth and invasive ability of melanoma cells accompanied by the additional increase of p27Kip1. | 0.017150496 | 2006 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25063807 | 673 | BRAF | umls:C0025202 | BeFree | Mitogen-activated protein kinase (MAPK) hyperactivation and enhanced NRAS expression drive acquired vemurafenib resistance in V600E BRAF melanoma cells. | 0.430771416 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23948972 | 22882 | ZHX2 | umls:C0025202 | BeFree | To investigate the mechanism(s) of resistance to the RAF-inhibitor vemurafenib, we conducted a comprehensive analysis of the genetic alterations occurring in metastatic lesions from a patient with a BRAF(V600E)-mutant cutaneous melanoma who, after a first response, underwent subsequent rechallenge with this drug. | 0.019543815 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 20412787 | 673 | BRAF | umls:C0025202 | BeFree | BRAF V600E mutations are the most common found in melanoma; specific inhibitors of mutant BRAF have been developed and are currently in clinical trials. | 0.430771416 | 2010 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25117819 | 673 | BRAF | umls:C0025202 | BeFree | BRAF(V600E) melanoma cells secrete factors that activate stromal fibroblasts and enhance tumourigenicity. | 0.430771416 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22962325 | 673 | BRAF | umls:C0025202 | BeFree | Here, we show intralesional molecular heterogeneity in a progressing V600E BRAF-mutant melanoma metastasis from a patient treated for 7 months with the BRAF inhibitor vemurafenib. | 0.430771416 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22588879 | 5604 | MAP2K1 | umls:C0025202 | BeFree | Preexisting MEK1 exon 3 mutations in V600E/KBRAF melanomas do not confer resistance to BRAF inhibitors. | 0.130877538 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25654738 | 2048 | EPHB2 | umls:C0025202 | BeFree | In recent years, intracellular signal transduction via RAS-RAF-MEK-ERK has been successfully targeted in new treatment approaches for melanoma using small molecule inhibitors against activated BRAF (V600E mutation) and activated MEK1/2. | 0.015472187 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22067401 | 22882 | ZHX2 | umls:C0025202 | BeFree | RAF inhibitors are effective against melanomas with BRAF V600E mutations but may induce keratoacanthomas (KAs) and cutaneous squamous cell carcinomas (cSCCs). | 0.019543815 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 21725359 | 5728 | PTEN | umls:C0025202 | BeFree | Concurrent loss of the PTEN and RB1 tumor suppressors attenuates RAF dependence in melanomas harboring (V600E)BRAF. | 0.272069867 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23948972 | 22882 | ZHX2 | umls:C0151779 | BeFree | To investigate the mechanism(s) of resistance to the RAF-inhibitor vemurafenib, we conducted a comprehensive analysis of the genetic alterations occurring in metastatic lesions from a patient with a BRAF(V600E)-mutant cutaneous melanoma who, after a first response, underwent subsequent rechallenge with this drug. | 0.001085767 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22796458 | 673 | BRAF | umls:C0025202 | BeFree | Our data indicate that the C57BL/6J Tyr::CreER(T2);PTEN(F-/-);BRAF(F-V600E/+) melanoma model could be used as a standard model in which targeted and immunotherapy combinations can be tested in a high-throughput manner. | 0.430771416 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22791410 | 673 | BRAF | umls:C0025202 | BeFree | We found that all primary sinonasal mucosal melanomas lack BRAF V600E mutation; in addition, they are characterized by somatic mutations of NRAS (22%) and KIT (12.5%), together with amplification of RREB1 (100%) and loss of MYB (76%). | 0.430771416 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 26124322 | 673 | BRAF | umls:C0025202 | BeFree | The v-raf murine sarcoma viral oncogene homolog B1 V600E mutant melanoma cell line A375 was used as an in vitro model. | 0.430771416 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 20149136 | 673 | BRAF | umls:C0025202 | BeFree | PLX4032, a selective BRAF(V600E) kinase inhibitor, activates the ERK pathway and enhances cell migration and proliferation of BRAF melanoma cells. | 0.430771416 | 2010 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 18715233 | 5609 | MAP2K7 | umls:C0025202 | BeFree | These data suggest that regulation of BIM expression by BRAF-->MEK-->ERK signaling is one mechanism by which oncogenic BRAF(V600E) can influence the aberrant physiology of melanoma cells. | 0.029315722 | 2008 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23584600 | 673 | BRAF | umls:C0025202 | BeFree | CAST-PCR gave rapid and accurate results for the common V600E and V600K mutations, however additional assays are required to detect rarer BRAF mutation types found in 3-4% of melanomas. | 0.430771416 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25472943 | 5294 | PIK3CG | umls:C0025202 | BeFree | These results provide a conceptual framework for the combined deployment of BRAF(V600E) plus PI3K pathway-targeted inhibitors in the treatment of a subset of patients with BRAF-mutated melanoma. | 0.016839328 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23855428 | 4893 | NRAS | umls:C0025202 | BeFree | Mutation in BRAF and NRAS was present in 43% (88% V600E, 10% V600K) and 30% (48% Q61K, 40% Q61R) of metastatic melanomas, respectively. | 0.235804412 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25370471 | 673 | BRAF | umls:C0025202 | BeFree | A patient with V600E BRAF-mutant melanoma and another with platinum-refractory epithelial ovarian cancer exhibiting PTEN loss and PIK3CA amplification demonstrated partial response by RECIST and GCIG-CA125 criteria, respectively. | 0.430771416 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 19659611 | 4286 | MITF | umls:C0025202 | BeFree | Simultaneous suppression of MITF and BRAF V600E enhanced inhibition of melanoma cell proliferation. | 0.074352293 | 2009 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 21505227 | 673 | BRAF | umls:C0025202 | BeFree | The discovery of activating BRAF V600E mutations in 50% of all melanoma patients and the development of small molecule BRAF inhibitors looks set to revolutionize the therapy of disseminated melanoma. | 0.430771416 | 2011 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23499336 | 673 | BRAF | umls:C0025202 | BeFree | In this study, sensitive and quantitative BRAF V600E and V600K mutation-specific real-time quantitative PCR was used to study the occurrence of small subsets of mutation-positive cells in primary melanomas and melanoma metastases. | 0.430771416 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 20149136 | 5894 | RAF1 | umls:C0025202 | BeFree | Our studies with melanoma tumor cells that are BRAF(V600E/K) and BRAF(WT) showed that, paradoxically, while PLX4032 inhibited ERK1/2 in the highly sensitive BRAF(V600E/K), it activated the pathway in the resistant BRAF(WT) cells, via RAF1 activation, regardless of the status of mutations in NRAS or PTEN. | 0.027706934 | 2010 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 19233913 | 4286 | MITF | umls:C0025202 | BeFree | Testing for the expression of a melanoma-associated gene panel (MLANA, MAGEA3, and MITF) with qRT-PCR and for the presence of BRAFmt (a BRAF gene variant encoding the V600E mutant protein) verified the beads-isolated CTCs to be melanoma cells. | 0.074352293 | 2009 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24220097 | 673 | BRAF | umls:C0025202 | BeFree | Molecular studies demonstrated that the melanoma was positive for the 1799T>A (V600E) mutation in the BRAF gene. | 0.430771416 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23026937 | 673 | BRAF | umls:C0025202 | BeFree | Immunohistochemistry is highly sensitive and specific for the detection of V600E BRAF mutation in melanoma. | 0.430771416 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24918823 | 673 | BRAF | umls:C0025202 | BeFree | The DDFI was significantly shorter in patients with BRAF(V600K/R) versus BRAF(V600E) melanoma in univariate and multivariate analyses. | 0.430771416 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22537109 | 673 | BRAF | umls:C0025202 | BeFree | We also report the X-ray crystal structure of a BRAF/quinolol complex revealing the mode of inhibition, employ structure-based medicinal chemistry efforts to prepare naphthol analogues that inhibit BRAF(V600E) in vitro with IC(50) values in the 80-200 nM range under saturating ATP concentrations, and demonstrate that these compounds inhibit MAPK signaling in melanoma cells. | 0.430771416 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23704925 | 4893 | NRAS | umls:C0025202 | BeFree | Besides confirming the presence of known melanoma driver mutations (BRAF(V600E), NRAS(Q61R) ), we identified novel mutated genes involved in signalling pathways crucial for melanoma pathogenesis and already addressed by current targeted therapies (such as MAPK and glutamate pathways). | 0.235804412 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25654738 | 5604 | MAP2K1 | umls:C0025202 | BeFree | In recent years, intracellular signal transduction via RAS-RAF-MEK-ERK has been successfully targeted in new treatment approaches for melanoma using small molecule inhibitors against activated BRAF (V600E mutation) and activated MEK1/2. | 0.130877538 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24710085 | 5894 | RAF1 | umls:C0025202 | BeFree | Inhibitors of RAF inhibit the MAPK pathway that plays an important role in the development and progression of those melanoma carrying the V600E BRAF mutation, but there's a subset of such patients who do not respond to the therapy. | 0.027706934 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24746704 | 5609 | MAP2K7 | umls:C0025202 | BeFree | MEK inhibitors are clinically active in BRAF(V600E) melanomas but only marginally so in KRAS mutant tumors. | 0.029315722 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24756795 | 673 | BRAF | umls:C0025202 | BeFree | The activating BRAF mutation V600E and related mutations in this codon are most important for the activation of the RAS/RAF/MEK/ERK mitogen-activated protein kinase (MAPK) signalling pathway in melanoma. | 0.430771416 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 21725359 | 22882 | ZHX2 | umls:C0025202 | BeFree | Concurrent loss of the PTEN and RB1 tumor suppressors attenuates RAF dependence in melanomas harboring (V600E)BRAF. | 0.019543815 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24531984 | 673 | BRAF | umls:C0025202 | BeFree | Taken together, our study demonstrates that ASCT2-mediated glutamine transport is a potential therapeutic target for both BRAF(WT) and BRAF(V600E) melanoma. | 0.430771416 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22549727 | 5290 | PIK3CA | umls:C0025202 | BeFree | The reactivation of senescence features and elimination of cells refractory to BRAF(V600E) inhibition by PI3K inhibition warrants further investigation into the therapeutic potential of simultaneously targeting these pathways in melanoma. | 0.014657861 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 17302867 | 673 | BRAF | umls:C0025202 | BeFree | BRAF is an oncogene that is commonly mutated in both melanomas and papillary thyroid carcinomas, usually at position V600E that leads to constitutive activity in the Ras-mitogen-activated protein kinase (MAPK) pathway. | 0.430771416 | 2007 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24703243 | 158158 | RASEF | umls:C0025202 | BeFree | Near-genomewide RNAi screening for regulators of BRAF(V600E) -induced senescence identifies RASEF, a gene epigenetically silenced in melanoma. | 0.002995792 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24185007 | 673 | BRAF | umls:C0025202 | BeFree | Preliminary analysis of biopsies from BRAF(V600E) melanoma patients revealed that phosphorylated (active) CREB was suppressed by RAF-MEK inhibition but restored in relapsing tumours. | 0.430771416 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25472943 | 5728 | PTEN | umls:C0025202 | BeFree | Although BRAF(V600E)/PIK3CA(H1047R) melanomas were sensitive to the antiproliferative effects of selective PI3Kα blockade, inhibition of BRAF(V600E)/PTEN(Null) melanoma proliferation required combined blockade of PI3Kα, PI3Kδ, and PI3Kγ, and was insensitive to PI3Kβ blockade. | 0.272069867 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24185007 | 22858 | ICK | umls:C0025202 | BeFree | Malignant melanomas harbouring point mutations (Val600Glu) in the serine/threonine-protein kinase BRAF (BRAF(V600E)) depend on RAF-MEK-ERK signalling for tumour cell growth. | 0.000271442 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24185007 | 55872 | PBK | umls:C0025202 | BeFree | Malignant melanomas harbouring point mutations (Val600Glu) in the serine/threonine-protein kinase BRAF (BRAF(V600E)) depend on RAF-MEK-ERK signalling for tumour cell growth. | 0.000271442 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 19276360 | 673 | BRAF | umls:C0025202 | BeFree | The responsiveness of BRAF(V600E) melanoma cells to GDC-0879 could be dramatically altered by pharmacologic and genetic modulation of phosphatidylinositol 3-kinase pathway activity. | 0.430771416 | 2009 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24185007 | 9874 | TLK1 | umls:C0025202 | BeFree | Malignant melanomas harbouring point mutations (Val600Glu) in the serine/threonine-protein kinase BRAF (BRAF(V600E)) depend on RAF-MEK-ERK signalling for tumour cell growth. | 0.000271442 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 21483012 | 673 | BRAF | umls:C0025202 | BeFree | The incidence of BRAF mutations other than V600E is significantly higher in lung cancer than in melanoma. | 0.430771416 | 2011 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24077403 | 673 | BRAF | umls:C0025202 | BeFree | Melanomas harboring the BRAF V600E mutation have demonstrated sensitivity to both RAF and MAPK/extracellular signal regulated kinase (ERK) inhibitors in vitro and in vivo. | 0.430771416 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24970815 | 5894 | RAF1 | umls:C0025202 | BeFree | Inhibition of RAF/MEK/ERK signaling is beneficial for many patients with BRAF(V600E)-mutated melanoma. | 0.027706934 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22791410 | 6239 | RREB1 | umls:C0025202 | BeFree | We found that all primary sinonasal mucosal melanomas lack BRAF V600E mutation; in addition, they are characterized by somatic mutations of NRAS (22%) and KIT (12.5%), together with amplification of RREB1 (100%) and loss of MYB (76%). | 0.002714419 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 19679016 | 673 | BRAF | umls:C0025202 | BeFree | One such target is the V600E gain-of-function BRAF mutation found in 60% of melanomas; other mutations or molecular alterations cooperate with V600E BRAF, particularly those that cause loss of function of PTEN, upstream of Akt and mammalian target of rapamycin. | 0.430771416 | 2009 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23812671 | 4193 | MDM2 | umls:C0025202 | BeFree | Dual targeting of BRAF(V600E) and Hdm2 with vemurafenib and Nt-3, respectively, synergistically induced apoptosis and suppressed melanoma viability in vitro and tumor growth in vivo. | 0.13198705 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24756795 | 5594 | MAPK1 | umls:C0025202 | BeFree | The activating BRAF mutation V600E and related mutations in this codon are most important for the activation of the RAS/RAF/MEK/ERK mitogen-activated protein kinase (MAPK) signalling pathway in melanoma. | 0.029355448 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22588873 | 5604 | MAP2K1 | umls:C0025202 | BeFree | In this issue of Cancer Discovery, Shi and colleagues add further insight into the role of exon 3 MEK1 mutations in BRAF inhibitor resistance by demonstrating the presence of P124SMEK1 and I111SMEK1 mutations concurrently with V600E/KBRAF mutations at baseline in 16% of melanoma specimens. | 0.130877538 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25073704 | 673 | BRAF | umls:C0025202 | BeFree | MAP kinase activity supported by BRAF (V600E) mutation rather than gene amplification is associated with ETV1 expression in melanoma brain metastases. | 0.430771416 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24710085 | 22882 | ZHX2 | umls:C0025202 | BeFree | Inhibitors of RAF inhibit the MAPK pathway that plays an important role in the development and progression of those melanoma carrying the V600E BRAF mutation, but there's a subset of such patients who do not respond to the therapy. | 0.019543815 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24425783 | 5290 | PIK3CA | umls:C0025202 | BeFree | Blockade of BRAF(V600E) → MEK1/2 → ERK1/2 or class I PI3K inhibited melanoma proliferation, whereas inhibition of AKT had only modest effects, even in cells with mutated or amplified AKT. | 0.014657861 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 16001072 | 673 | BRAF | umls:C0025202 | BeFree | Ectopic MITF expression in conjunction with the BRAF(V600E) mutant transformed primary human melanocytes, and thus MITF can function as a melanoma oncogene. | 0.430771416 | 2005 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25422890 | 4893 | NRAS | umls:C0025202 | BeFree | CH5126766/RO5126766 induced G1 cell cycle arrest in two melanoma cell lines with the BRAF V600E or NRAS mutation. | 0.235804412 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24531984 | 6510 | SLC1A5 | umls:C0025202 | BeFree | Taken together, our study demonstrates that ASCT2-mediated glutamine transport is a potential therapeutic target for both BRAF(WT) and BRAF(V600E) melanoma. | 0.000271442 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22045652 | 673 | BRAF | umls:C0025202 | BeFree | Analysis of frozen and fixed material from 21 CCS and 21 MM showed the presence of the V600E BRAF mutation in 2/12 EWSR1+ and 3/9 EWSR1- CCS and 9/21 MM and demonstrated a significant (P < 0.001) correlation between the gain of chromosomes 22 and 8 and EWSR1- CCS. | 0.430771416 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24596183 | 673 | BRAF | umls:C0025202 | BeFree | The U.S. Food and Drug Administration approved the use of trametinib and dabrafenib in combination for patients with metastatic or unresectable melanoma with BRAF V600K or V600E mutations-the first combination therapy approved for the disease. | 0.430771416 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25607474 | 673 | BRAF | umls:C0151779 | BeFree | The BRAF V600E mutation accounts for the majority of BRAF mutations found in cutaneous melanoma and is also commonly found in nevi. | 0.016557954 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 26058727 | 673 | BRAF | umls:C0025202 | BeFree | Utility of BRAF V600E Immunohistochemistry Expression Pattern as a Surrogate of BRAF Mutation Status in 154 Patients with Advanced Melanoma. | 0.430771416 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24858900 | 8030 | CCDC6 | umls:C0151779 | BeFree | The purpose of this study is to describe a case of concurrent medullary and papillary thyroid carcinoma (MTC and PTC) and cutaneous melanoma and to analyze BRAF(V600E) mutation in plasma and tissues. | 0.000271442 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 26056325 | 673 | BRAF | umls:C0025202 | BeFree | Continuing vemurafenib or dabrafenib therapy despite hypersensitivity reaction is especially important in patients with melanoma and BRAF(V600E) mutation, in whom this mutation plays a critical role in tumour growth. | 0.430771416 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23831555 | 673 | BRAF | umls:C0025202 | BeFree | Remarkably, abrogating MITF activity in BRAF(V600E)mitf melanoma leads to dramatic tumor regression marked by melanophage infiltration and increased apoptosis. | 0.430771416 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 18679422 | 673 | BRAF | umls:C0025202 | BeFree | Our data suggest that one of the major functions of C-MYC overexpression in melanoma progression is to continuous suppress BRAF(V600E)- or NRAS(Q61R)-dependent senescence programs. | 0.430771416 | 2008 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22361686 | 2011 | MARK2 | umls:C0025202 | BeFree | Activating mutations in the BRAF serine/threonine kinase are found in more than 70% of human melanomas, >90% of which are BRAF(V600E). | 0.010606096 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23382536 | 3717 | JAK2 | umls:C0025202 | BeFree | At clinically informative sites, we identified seven low-frequency point mutations (0.2%-4.7%), including BRAF p.V600E (melanoma, 0.2% alternate allele frequency), KRAS p.G12V (lung, 0.6%), JAK2 p.V617F (melanoma, colon, two lung, 0.3%-1.4%), and NRAS p.Q61R (colon, 4.7%). | 0.003810118 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25046227 | 673 | BRAF | umls:C0025202 | BeFree | About 40% to 60% of cutaneous melanomas have BRAF mutations, and 90% of the mutations involve a specific substitution at codon 600 (BRAF V600E). | 0.430771416 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23802768 | 673 | BRAF | umls:C0025202 | BeFree | Impact of MET expression on outcome in BRAF(V600E/K) advanced melanoma. | 0.430771416 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22549727 | 5294 | PIK3CG | umls:C0025202 | BeFree | The reactivation of senescence features and elimination of cells refractory to BRAF(V600E) inhibition by PI3K inhibition warrants further investigation into the therapeutic potential of simultaneously targeting these pathways in melanoma. | 0.016839328 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22845480 | 673 | BRAF | umls:C0025202 | BeFree | Here, we discuss the current commonly used predictive pharmacogenetic biomarkers in clinical oncology molecular testing: BRAF V600E for vemurafenib in melanoma; EML4-ALK for crizotinib and EGFR for erlotinib and gefitinib in non-small-cell lung cancer; KRAS against the use of cetuximab and panitumumab in colorectal cancer; ERBB2 (HER2/neu) for trastuzumab in breast cancer; BCR-ABL for tyrosine kinase inhibitors in chronic myeloid leukemia; and PML/RARα for all-trans-retinoic acid and arsenic trioxide treatment for acute promyelocytic leukemia. | 0.430771416 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22845480 | 5914 | RARA | umls:C0025202 | BeFree | Here, we discuss the current commonly used predictive pharmacogenetic biomarkers in clinical oncology molecular testing: BRAF V600E for vemurafenib in melanoma; EML4-ALK for crizotinib and EGFR for erlotinib and gefitinib in non-small-cell lung cancer; KRAS against the use of cetuximab and panitumumab in colorectal cancer; ERBB2 (HER2/neu) for trastuzumab in breast cancer; BCR-ABL for tyrosine kinase inhibitors in chronic myeloid leukemia; and PML/RARα for all-trans-retinoic acid and arsenic trioxide treatment for acute promyelocytic leukemia. | 0.001357209 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 21262211 | 673 | BRAF | umls:C0025202 | BeFree | The BRAF gene has been identified as an oncogene in human cancer and the V600E mutation has been shown to be associated with clinico pathological features of primary invasive melanomas. | 0.430771416 | 2011 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24858900 | 5727 | PTCH1 | umls:C0151779 | BeFree | The purpose of this study is to describe a case of concurrent medullary and papillary thyroid carcinoma (MTC and PTC) and cutaneous melanoma and to analyze BRAF(V600E) mutation in plasma and tissues. | 0.000271442 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24185007 | 5894 | RAF1 | umls:C0025202 | BeFree | RAF and MEK inhibitors show remarkable clinical efficacy in BRAF(V600E) melanoma; however, resistance to these agents remains a formidable challenge. | 0.027706934 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23251002 | 673 | BRAF | umls:C0025202 | BeFree | We conducted comparative proteomic analysis of BRAF(V600E) melanoma and CRC cell lines, followed by correlation of phosphoinositide 3-kinase (PI3K) pathway activation and sensitivity to the vemurafenib analogue PLX4720. | 0.430771416 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 21725359 | 5609 | MAP2K7 | umls:C0025202 | BeFree | We identified concurrent mutational inactivation of the PTEN and RB1 tumor suppressors as a mechanism for loss of BRAF/MEK dependence in melanomas harboring (V600E)BRAF mutations. | 0.029315722 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22549727 | 673 | BRAF | umls:C0025202 | BeFree | The reactivation of senescence features and elimination of cells refractory to BRAF(V600E) inhibition by PI3K inhibition warrants further investigation into the therapeutic potential of simultaneously targeting these pathways in melanoma. | 0.430771416 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22113612 | 673 | BRAF | umls:C0025202 | BeFree | This tumour-specific inhibition of ERK signalling results in a broad therapeutic index and RAF inhibitors have remarkable clinical activity in patients with melanomas that harbour mutant BRAF(V600E). | 0.430771416 | 2011 | BRAF | 7 | 140753336 | A | T,G,C |
| rs1136410 | 22687647 | 4595 | MUTYH | umls:C0025202 | BeFree | We hypothesized that common nsSNPs of BER genes, specifically ADPRT rs1136410, XRCC1 rs25487, rs25489, rs1799782, APEX1 rs1130409, OGG1 rs1052133, LIG3 rs3136025 and MUTYH rs3219466, may contribute to risk of melanoma. | 0.000542884 | 2012 | PARP1 | 1 | 226367601 | A | G |
| rs1138272 | 19484507 | 2950 | GSTP1 | umls:C0025202 | BeFree | No significant effect of null GSTM1 allele and GSTP1 variants (p.I105V, p.A114V) on melanoma risk was found. | 0.011539974 | 2009 | GSTP1 | 11 | 67586108 | C | T |
| rs1138272 | 19484507 | 2944 | GSTM1 | umls:C0025202 | BeFree | No significant effect of null GSTM1 allele and GSTP1 variants (p.I105V, p.A114V) on melanoma risk was found. | 0.010901282 | 2009 | GSTP1 | 11 | 67586108 | C | T |
| rs11540654 | 23568549 | 7508 | XPC | umls:C0025202 | BeFree | Assessment of the XPC (A2920C), XPF (T30028C), TP53 (Arg72Pro) and GSTP1 (Ile105Val) polymorphisms in the risk of cutaneous melanoma. | 0.013735253 | 2013 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 20535124 | 7157 | TP53 | umls:C0151779 | BeFree | MDM2 SNP309 and p53 Arg72Pro in cutaneous melanoma: association between SNP309 GG genotype and tumor Breslow thickness. | 0.006243163 | 2010 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 23568549 | 2950 | GSTP1 | umls:C0151779 | BeFree | Assessment of the XPC (A2920C), XPF (T30028C), TP53 (Arg72Pro) and GSTP1 (Ile105Val) polymorphisms in the risk of cutaneous melanoma. | 0.000271442 | 2013 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 22336942 | 4193 | MDM2 | umls:C0025202 | BeFree | Investigation of the effect of MDM2 SNP309 and TP53 Arg72Pro polymorphisms on the age of onset of cutaneous melanoma. | 0.13198705 | 2012 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 23568549 | 7508 | XPC | umls:C0151779 | BeFree | Assessment of the XPC (A2920C), XPF (T30028C), TP53 (Arg72Pro) and GSTP1 (Ile105Val) polymorphisms in the risk of cutaneous melanoma. | 0.000814326 | 2013 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 23568549 | 7157 | TP53 | umls:C0151779 | BeFree | Assessment of the XPC (A2920C), XPF (T30028C), TP53 (Arg72Pro) and GSTP1 (Ile105Val) polymorphisms in the risk of cutaneous melanoma. | 0.006243163 | 2013 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 22336942 | 7157 | TP53 | umls:C0025202 | BeFree | Investigation of the effect of MDM2 SNP309 and TP53 Arg72Pro polymorphisms on the age of onset of cutaneous melanoma. | 0.226174462 | 2012 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 22336942 | 7157 | TP53 | umls:C0151779 | BeFree | Investigation of the effect of MDM2 SNP309 and TP53 Arg72Pro polymorphisms on the age of onset of cutaneous melanoma. | 0.006243163 | 2012 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 20535124 | 4193 | MDM2 | umls:C0025202 | BeFree | MDM2 SNP309 and p53 Arg72Pro in cutaneous melanoma: association between SNP309 GG genotype and tumor Breslow thickness. | 0.13198705 | 2010 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 23568549 | 2072 | ERCC4 | umls:C0025202 | BeFree | Assessment of the XPC (A2920C), XPF (T30028C), TP53 (Arg72Pro) and GSTP1 (Ile105Val) polymorphisms in the risk of cutaneous melanoma. | 0.008186863 | 2013 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 22336942 | 4193 | MDM2 | umls:C0151779 | BeFree | Investigation of the effect of MDM2 SNP309 and TP53 Arg72Pro polymorphisms on the age of onset of cutaneous melanoma. | 0.001085767 | 2012 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 23568549 | 2950 | GSTP1 | umls:C0025202 | BeFree | Assessment of the XPC (A2920C), XPF (T30028C), TP53 (Arg72Pro) and GSTP1 (Ile105Val) polymorphisms in the risk of cutaneous melanoma. | 0.011539974 | 2013 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 23568549 | 2072 | ERCC4 | umls:C0151779 | BeFree | Assessment of the XPC (A2920C), XPF (T30028C), TP53 (Arg72Pro) and GSTP1 (Ile105Val) polymorphisms in the risk of cutaneous melanoma. | 0.000271442 | 2013 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 23568549 | 7157 | TP53 | umls:C0025202 | BeFree | Assessment of the XPC (A2920C), XPF (T30028C), TP53 (Arg72Pro) and GSTP1 (Ile105Val) polymorphisms in the risk of cutaneous melanoma. | 0.226174462 | 2013 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 20535124 | 4193 | MDM2 | umls:C0151779 | BeFree | MDM2 SNP309 and p53 Arg72Pro in cutaneous melanoma: association between SNP309 GG genotype and tumor Breslow thickness. | 0.001085767 | 2010 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 20535124 | 7157 | TP53 | umls:C0025202 | BeFree | MDM2 SNP309 and p53 Arg72Pro in cutaneous melanoma: association between SNP309 GG genotype and tumor Breslow thickness. | 0.226174462 | 2010 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11547328 | 20649939 | 1019 | CDK4 | umls:C0025202 | BeFree | Autochthonous primary and metastatic melanomas in Hgf-Cdk4 R24C mice evade T-cell-mediated immune surveillance. | 0.061416722 | 2010 | CDK4;MARCH9 | 12 | 57751648 | G | A |
| rs11547328 | 12904177 | 1029 | CDKN2A | umls:C0025202 | BeFree | Dominant activating mutations affecting codon 24 of the CDK4 gene (replacement of Arg24 by Cys or His) render CDK4 insensitive to p16(INK4) inhibition and are responsible for melanoma susceptibility in some kindreds. | 0.36 | 2003 | CDK4;MARCH9 | 12 | 57751648 | G | A |
| rs11547328 | 11756559 | 1019 | CDK4 | umls:C0025202 | BeFree | The observation that a wide variety of tumors develop in mice harboring the Cdk4(R24C) mutation offers a genetic proof that Cdk4 activation may constitute a central event in the genesis of many types of cancers in addition to melanoma. | 0.061416722 | 2002 | CDK4;MARCH9 | 12 | 57751648 | G | A |
| rs11547328 | 25189354 | 1029 | CDKN2A | umls:C0025202 | BeFree | Here, using a bigenic mouse model system combining mutant oncogenic NRAS(Q61K) (constitutively active RAS) or mutant activated CDK4(R24C/R24C) (prevents binding of CDK4 by kinase inhibitor p16(INK4A)) with an epidermis-specific knockout of the nuclear retinoid X receptor alpha (RXRα(ep-/-)) results in increased melanoma formation after chronic ultraviolet-B (UVB) irradiation compared with control mice with functional RXRα. | 0.36 | 2015 | CDK4;MARCH9 | 12 | 57751648 | G | A |
| rs11547328 | 16707471 | 3569 | IL6 | umls:C0025202 | BeFree | HGF x CDK4(R24C) mice rapidly develop multiple invasive melanomas in the skin following neonatal carcinogen treatment, which spontaneously metastasize to lymph nodes and lungs. | 0.019673298 | 2006 | CDK4;MARCH9 | 12 | 57751648 | G | A |
| rs11547328 | 12904177 | 1019 | CDK4 | umls:C0025202 | BeFree | Dominant activating mutations affecting codon 24 of the CDK4 gene (replacement of Arg24 by Cys or His) render CDK4 insensitive to p16(INK4) inhibition and are responsible for melanoma susceptibility in some kindreds. | 0.061416722 | 2003 | CDK4;MARCH9 | 12 | 57751648 | G | A |
| rs11547328 | 25189354 | 1019 | CDK4 | umls:C0025202 | BeFree | These results suggest a crucial role of keratinocytic RXRα to suppress formation of UVB-induced melanomas and their progression to malignant cancers in the context of driver mutations such as activated CDK4(R24C/R24C) or oncogenic NRAS(Q61K). | 0.061416722 | 2015 | CDK4;MARCH9 | 12 | 57751648 | G | A |
| rs11547328 | 12731669 | 1029 | CDKN2A | umls:C0025202 | BeFree | A mutation of the p16(INK4a)-binding domain of the cyclin dependent kinase 4 (CDK4) gene, R24C, has been reported in some cases of melanoma. | 0.36 | 2003 | CDK4;MARCH9 | 12 | 57751648 | G | A |
| rs11547328 | 16707471 | 3082 | HGF | umls:C0025202 | BeFree | Carcinogen-treated HGF x CDK4(R24C) mice bearing multiple autochthonous melanomas did not reject transplanted B16 melanoma despite treatment with Ad-hTRP2 and TLR ligands, suggesting the development of tumor immunotolerance. | 0.014687656 | 2006 | CDK4;MARCH9 | 12 | 57751648 | G | A |
| rs11547328 | 16707471 | 1019 | CDK4 | umls:C0025202 | BeFree | Carcinogen-treated HGF x CDK4(R24C) mice bearing multiple autochthonous melanomas did not reject transplanted B16 melanoma despite treatment with Ad-hTRP2 and TLR ligands, suggesting the development of tumor immunotolerance. | 0.061416722 | 2006 | CDK4;MARCH9 | 12 | 57751648 | G | A |
| rs11547328 | 9416844 | 1019 | CDK4 | umls:C0025202 | BeFree | In the case of CDK4, only one specific mutation, resulting in the substitution of a cysteine for an arginine at codon 24 (R24C), has been found to be associated with melanoma. | 0.061416722 | 1997 | CDK4;MARCH9 | 12 | 57751648 | G | A |
| rs11547328 | 11479422 | 1019 | CDK4 | umls:C0025202 | BeFree | As the pivotal residues around the most predominant R24C activating CDK4 mutation are invariant between CDK2 and CDK4, we speculated that the pivotal arginine (position 22 in CDK2), or a nearby residue, may be mutated in some melanomas, resulting in the diminution of its binding and inhibition by p27KIP1 or p21CIP1. | 0.061416722 | 2001 | CDK4;MARCH9 | 12 | 57751648 | G | A |
| rs11547328 | 18386818 | 1019 | CDK4 | umls:C0025202 | BeFree | We previously showed that mice carrying an activated Cdk4 mutation together with melanocyte-specific mutant Hras (Cdk4(R24C/R24C)/TPras) develop melanoma spontaneously, but penetrance is increased and age of onset reduced after neonatal ultraviolet radiation (UVR) exposure. | 0.061416722 | 2008 | CDK4;MARCH9 | 12 | 57751648 | G | A |
| rs11547328 | 25189354 | 6256 | RXRA | umls:C0025202 | BeFree | Here, using a bigenic mouse model system combining mutant oncogenic NRAS(Q61K) (constitutively active RAS) or mutant activated CDK4(R24C/R24C) (prevents binding of CDK4 by kinase inhibitor p16(INK4A)) with an epidermis-specific knockout of the nuclear retinoid X receptor alpha (RXRα(ep-/-)) results in increased melanoma formation after chronic ultraviolet-B (UVB) irradiation compared with control mice with functional RXRα. | 0.000271442 | 2015 | CDK4;MARCH9 | 12 | 57751648 | G | A |
| rs11547328 | 16707471 | 6654 | SOS1 | umls:C0025202 | BeFree | HGF x CDK4(R24C) mice rapidly develop multiple invasive melanomas in the skin following neonatal carcinogen treatment, which spontaneously metastasize to lymph nodes and lungs. | 0.002442977 | 2006 | CDK4;MARCH9 | 12 | 57751648 | G | A |
| rs11547328 | 23724991 | 1019 | CDK4 | umls:C0025202 | BeFree | We previously noted that melanomas developing in Cdk4(R24C/R24C) ::Tyr-NRAS, Arf(-/-) ::Tyr-NRAS and Trp53(F/F) ::Tyr-Cre(ER)::Tyr-NRAS mice exhibited differences in behaviour in vivo. | 0.061416722 | 2013 | CDK4;MARCH9 | 12 | 57751648 | G | A |
| rs11547328 | 12731669 | 1019 | CDK4 | umls:C0025202 | BeFree | A mutation of the p16(INK4a)-binding domain of the cyclin dependent kinase 4 (CDK4) gene, R24C, has been reported in some cases of melanoma. | 0.061416722 | 2003 | CDK4;MARCH9 | 12 | 57751648 | G | A |
| rs11554290 | 25048604 | 4893 | NRAS | umls:C0025202 | BeFree | We investigated the associations between BRAF(V600E) and NRAS(Q61R) mutations and known risk factors, clinicopathologic characteristics and clinical outcomes of melanoma in a case series of primary invasive cutaneous melanoma from the Nurses' Health Study (NHS). | 0.235804412 | 2014 | NRAS | 1 | 114713908 | T | G,C,A |
| rs11554290 | 25048604 | 4893 | NRAS | umls:C0151779 | BeFree | We investigated the associations between BRAF(V600E) and NRAS(Q61R) mutations and known risk factors, clinicopathologic characteristics and clinical outcomes of melanoma in a case series of primary invasive cutaneous melanoma from the Nurses' Health Study (NHS). | 0.005700279 | 2014 | NRAS | 1 | 114713908 | T | G,C,A |
| rs11554290 | 23704925 | 4893 | NRAS | umls:C0025202 | BeFree | Besides confirming the presence of known melanoma driver mutations (BRAF(V600E), NRAS(Q61R) ), we identified novel mutated genes involved in signalling pathways crucial for melanoma pathogenesis and already addressed by current targeted therapies (such as MAPK and glutamate pathways). | 0.235804412 | 2013 | NRAS | 1 | 114713908 | T | G,C,A |
| rs11554290 | 18679422 | 1029 | CDKN2A | umls:C0025202 | BeFree | These senescence phenotypes were p16(INK4A)- or p53-independent, however, several of them were suppressed by genetic or pharmacological inhibition of BRAF(V600E) or phosphoinositide 3-kinase pathways, including rapamycin-mediated inhibition of mTOR-raptor in NRAS(Q61R)-expressing melanoma cells. | 0.36 | 2008 | NRAS | 1 | 114713908 | T | G,C,A |
| rs11554290 | 20925915 | 4893 | NRAS | umls:C0025202 | BeFree | We have evaluated five real-time ARMS assays: BRAF 1799T>A, [this includes V600E and V600K] and NRAS 182A>G [Q61R] and 181C>A [Q61K] in melanoma, EGFR 2573T>G [L858R], 2235-2249del15 [E746-A750del] in non-small-cell lung cancer, and compared the results to DNA sequencing of the mutation 'hot-spots' in these genes in formalin-fixed paraffin-embedded tumour (FF-PET) DNA. | 0.235804412 | 2010 | NRAS | 1 | 114713908 | T | G,C,A |
| rs11554290 | 18679422 | 4893 | NRAS | umls:C0025202 | BeFree | Our data suggest that one of the major functions of C-MYC overexpression in melanoma progression is to continuous suppress BRAF(V600E)- or NRAS(Q61R)-dependent senescence programs. | 0.235804412 | 2008 | NRAS | 1 | 114713908 | T | G,C,A |
| rs11554290 | 23855428 | 4893 | NRAS | umls:C0025202 | BeFree | Mutation in BRAF and NRAS was present in 43% (88% V600E, 10% V600K) and 30% (48% Q61K, 40% Q61R) of metastatic melanomas, respectively. | 0.235804412 | 2013 | NRAS | 1 | 114713908 | T | G,C,A |
| rs11554290 | 18679422 | 673 | BRAF | umls:C0025202 | BeFree | Our data suggest that one of the major functions of C-MYC overexpression in melanoma progression is to continuous suppress BRAF(V600E)- or NRAS(Q61R)-dependent senescence programs. | 0.430771416 | 2008 | NRAS | 1 | 114713908 | T | G,C,A |
| rs11554290 | 23704925 | 673 | BRAF | umls:C0025202 | BeFree | Besides confirming the presence of known melanoma driver mutations (BRAF(V600E), NRAS(Q61R) ), we identified novel mutated genes involved in signalling pathways crucial for melanoma pathogenesis and already addressed by current targeted therapies (such as MAPK and glutamate pathways). | 0.430771416 | 2013 | NRAS | 1 | 114713908 | T | G,C,A |
| rs1155563 | 22576141 | 1591 | CYP24A1 | umls:C0025202 | BeFree | In our hospital-based case-control study including 305 melanoma patients and 370 healthy controls single nucleotide polymorphisms in the genes CYP27B1 (rs4646536), CYP24A1 (rs927650), VDBP (rs1155563, rs7041), and VDR (rs757343, rs731236, rs2107301, rs7975232) were analyzed for their association with melanoma risk and prognosis. | 0.001357209 | 2012 | GC | 4 | 71777771 | T | C |
| rs1155563 | 22576141 | 2638 | GC | umls:C0025202 | BeFree | In our hospital-based case-control study including 305 melanoma patients and 370 healthy controls single nucleotide polymorphisms in the genes CYP27B1 (rs4646536), CYP24A1 (rs927650), VDBP (rs1155563, rs7041), and VDR (rs757343, rs731236, rs2107301, rs7975232) were analyzed for their association with melanoma risk and prognosis. | 0.000814326 | 2012 | GC | 4 | 71777771 | T | C |
| rs1155563 | 22576141 | 1594 | CYP27B1 | umls:C0025202 | BeFree | In our hospital-based case-control study including 305 melanoma patients and 370 healthy controls single nucleotide polymorphisms in the genes CYP27B1 (rs4646536), CYP24A1 (rs927650), VDBP (rs1155563, rs7041), and VDR (rs757343, rs731236, rs2107301, rs7975232) were analyzed for their association with melanoma risk and prognosis. | 0.003800186 | 2012 | GC | 4 | 71777771 | T | C |
| rs121909232 | NA | 5728 | PTEN | umls:C0025202 | CLINVAR | NA | 0.272069867 | NA | PTEN | 10 | 87952258 | C | A |
| rs121909233 | NA | 5728 | PTEN | umls:C0025202 | CLINVAR | NA | 0.272069867 | NA | PTEN;KLLN | 10 | 87864524 | G | A |
| rs121909234 | NA | 5728 | PTEN | umls:C0025202 | CLINVAR | NA | 0.272069867 | NA | PTEN | 10 | 87957867 | G | A |
| rs121913113 | 18677770 | 9828 | ARHGEF17 | umls:C0025202 | BeFree | ARHGEF17 showed a G1865A mutation leading to W622X in a cell line derived from a mucosal melanoma; in RB1 a C1411T base change resulting in Q471X was discovered in a cell line derived from an acral melanoma; and the FGFR3 and DENND2D genes had intronic insertions leading to PTCs in cell lines derived from superficially spreading melanomas. | 0.002995792 | 2008 | FGFR3 | 4 | 1806076 | G | A |
| rs121913113 | 18677770 | 2261 | FGFR3 | umls:C0025202 | BeFree | ARHGEF17 showed a G1865A mutation leading to W622X in a cell line derived from a mucosal melanoma; in RB1 a C1411T base change resulting in Q471X was discovered in a cell line derived from an acral melanoma; and the FGFR3 and DENND2D genes had intronic insertions leading to PTCs in cell lines derived from superficially spreading melanomas. | 0.003267234 | 2008 | FGFR3 | 4 | 1806076 | G | A |
| rs121913113 | 18677770 | 79961 | DENND2D | umls:C0025202 | BeFree | ARHGEF17 showed a G1865A mutation leading to W622X in a cell line derived from a mucosal melanoma; in RB1 a C1411T base change resulting in Q471X was discovered in a cell line derived from an acral melanoma; and the FGFR3 and DENND2D genes had intronic insertions leading to PTCs in cell lines derived from superficially spreading melanomas. | 0.002995792 | 2008 | FGFR3 | 4 | 1806076 | G | A |
| rs121913227 | 23584600 | 673 | BRAF | umls:C0025202 | BeFree | CAST-PCR gave rapid and accurate results for the common V600E and V600K mutations, however additional assays are required to detect rarer BRAF mutation types found in 3-4% of melanomas. | 0.430771416 | 2013 | NA | NA | NA | NA | NA |
| rs121913227 | 21793228 | 673 | BRAF | umls:C0025202 | BeFree | Next, of the 15 archived melanoma FNAs tested, BRAF mutations were observed in 8 (53%); 5 and 3 melanomas harbored the V600E and V600K mutation, respectively. | 0.430771416 | 2012 | NA | NA | NA | NA | NA |
| rs121913227 | 22809251 | 673 | BRAF | umls:C0025202 | BeFree | Among the 20 melanomas with completed BRAF-sequencing analysis, 6 (30%) harbored a mutation, of which 5 (83%) had a V600E mutation and 1 (17%) had a V600R mutation. | 0.430771416 | 2012 | NA | NA | NA | NA | NA |
| rs121913227 | 23922205 | 4893 | NRAS | umls:C0025202 | BeFree | To determine whether specific mutations are clinically important to differentiate, tumor characteristics and clinical outcomes were compared among patients with advanced melanoma with 1) BRAF V600E versus V600K mutations and 2) NRAS exon 1 versus exon 2 mutations. | 0.235804412 | 2013 | NA | NA | NA | NA | NA |
| rs121913227 | 15948220 | 673 | BRAF | umls:C0025202 | BeFree | In total, we found 21 (70%) out of 30 melanoma cell lines with BRAF mutations in exon 15: two of which were the p.Val600Asp (c.1799-800TG>AT) mutation, one cell line contained the p.Val600Arg (c.1798-99GT>AG) mutation, and 18 cell lines contained the p.Val600Glu (c.1799T>A) mutation. | 0.430771416 | 2005 | NA | NA | NA | NA | NA |
| rs121913227 | 23463675 | 673 | BRAF | umls:C0025202 | BeFree | The somatic affairs of BRAF: tailored therapies for advanced malignant melanoma and orphan non-V600E (V600R-M) mutations. | 0.430771416 | 2013 | NA | NA | NA | NA | NA |
| rs121913227 | 20843808 | 673 | BRAF | umls:C0025202 | BeFree | The strong gain-of-function mutation, V600R, of BRAF found in melanomas and other cancers was identified in first passage synovial fibroblasts from two of nine rheumatoid arthritis patients and confirmed by restriction site mapping. | 0.430771416 | 2010 | NA | NA | NA | NA | NA |
| rs121913227 | 23237741 | 673 | BRAF | umls:C0025202 | BeFree | We have treated 45 patients with V600 mutated melanoma including patients with V600R mutation between July 2011 and October 2012 with the selective BRAF inhibitor dabrafenib (n=43) or vemurafenib (n=2) via a compassionate access programme. | 0.430771416 | 2013 | NA | NA | NA | NA | NA |
| rs121913227 | 24508103 | 673 | BRAF | umls:C0025202 | BeFree | Safety and efficacy of vemurafenib in BRAF(V600E) and BRAF(V600K) mutation-positive melanoma (BRIM-3): extended follow-up of a phase 3, randomised, open-label study. | 0.430771416 | 2014 | NA | NA | NA | NA | NA |
| rs121913227 | 25037456 | 27352 | SGSM3 | umls:C0025202 | BeFree | Since patients diagnosed with BRAF V600E and V600K mutated advanced melanoma show response to treatment with MAP kinase inhibitors, several sensitive methods have been developed to determine the V600 allele status of melanoma patients. | 0.005157396 | 2014 | NA | NA | NA | NA | NA |
| rs121913227 | 23584600 | 26059 | ERC2 | umls:C0025202 | BeFree | CAST-PCR gave rapid and accurate results for the common V600E and V600K mutations, however additional assays are required to detect rarer BRAF mutation types found in 3-4% of melanomas. | 0.000271442 | 2013 | NA | NA | NA | NA | NA |
| rs121913227 | 23584600 | 10849 | CD3EAP | umls:C0025202 | BeFree | CAST-PCR gave rapid and accurate results for the common V600E and V600K mutations, however additional assays are required to detect rarer BRAF mutation types found in 3-4% of melanomas. | 0.000271442 | 2013 | NA | NA | NA | NA | NA |
| rs121913227 | 23584600 | 831 | CAST | umls:C0025202 | BeFree | CAST-PCR gave rapid and accurate results for the common V600E and V600K mutations, however additional assays are required to detect rarer BRAF mutation types found in 3-4% of melanomas. | 0.000271442 | 2013 | NA | NA | NA | NA | NA |
| rs121913227 | 24283590 | 673 | BRAF | umls:C0025202 | BeFree | Here we report the discovery of a novel BRAF mutation that confers resistance to PLX4032 employing whole-exome sequencing of drug-resistant BRAF(V600K) melanoma cells. | 0.430771416 | 2013 | NA | NA | NA | NA | NA |
| rs121913227 | 24918823 | 673 | BRAF | umls:C0025202 | BeFree | The DDFI was significantly shorter in patients with BRAF(V600K/R) versus BRAF(V600E) melanoma in univariate and multivariate analyses. | 0.430771416 | 2014 | NA | NA | NA | NA | NA |
| rs121913227 | 24596183 | 673 | BRAF | umls:C0025202 | BeFree | The U.S. Food and Drug Administration approved the use of trametinib and dabrafenib in combination for patients with metastatic or unresectable melanoma with BRAF V600K or V600E mutations-the first combination therapy approved for the disease. | 0.430771416 | 2014 | NA | NA | NA | NA | NA |
| rs121913227 | 23855428 | 4893 | NRAS | umls:C0025202 | BeFree | Mutation in BRAF and NRAS was present in 43% (88% V600E, 10% V600K) and 30% (48% Q61K, 40% Q61R) of metastatic melanomas, respectively. | 0.235804412 | 2013 | NA | NA | NA | NA | NA |
| rs121913227 | 23499336 | 673 | BRAF | umls:C0025202 | BeFree | In this study, sensitive and quantitative BRAF V600E and V600K mutation-specific real-time quantitative PCR was used to study the occurrence of small subsets of mutation-positive cells in primary melanomas and melanoma metastases. | 0.430771416 | 2012 | NA | NA | NA | NA | NA |
| rs121913237 | 24885028 | 4893 | NRAS | umls:C0025202 | BeFree | In a limited validation of potentially actionable low frequency mutations, a NRAS G12D mutation in a melanoma was shown to be a false positive. | 0.235804412 | 2014 | NRAS | 1 | 114716126 | C | T,G,A |
| rs121913237 | 23303902 | 4893 | NRAS | umls:C0025202 | BeFree | When NRAS(G12D) was expressed in the melanocytes of developing embryos, it induced melanocyte proliferation and congenital melanocytic lesions reminiscent of human blue nevi but did not induce cutaneous melanoma. | 0.235804412 | 2013 | NRAS | 1 | 114716126 | C | T,G,A |
| rs121913237 | 23303902 | 4893 | NRAS | umls:C0151779 | BeFree | When NRAS(G12D) was expressed in the melanocytes of developing embryos, it induced melanocyte proliferation and congenital melanocytic lesions reminiscent of human blue nevi but did not induce cutaneous melanoma. | 0.005700279 | 2013 | NRAS | 1 | 114716126 | C | T,G,A |
| rs121913248 | 11406571 | 4893 | NRAS | umls:C0025202 | BeFree | However, for a precise elucidation of the role of the N-Ras(A18T) mutant in melanoma, additional studies aimed to measure the affinity to guanine nucleotide exchange factors and GTPase-activating proteins are needed. | 0.235804412 | 2001 | NRAS | 1 | 114716109 | C | T,G |
| rs121913250 | 24335517 | 4893 | NRAS | umls:C0025202 | BeFree | Direct sequencing of the melanoma revealed a rarely described NRAS mutation c.34G>T (G12C). | 0.235804412 | 2015 | NRAS | 1 | 114716127 | C | T,G,A |
| rs121913254 | 25189354 | 1019 | CDK4 | umls:C0025202 | BeFree | These results suggest a crucial role of keratinocytic RXRα to suppress formation of UVB-induced melanomas and their progression to malignant cancers in the context of driver mutations such as activated CDK4(R24C/R24C) or oncogenic NRAS(Q61K). | 0.061416722 | 2015 | NRAS | 1 | 114713909 | G | T,C |
| rs121913254 | 20925915 | 4893 | NRAS | umls:C0025202 | BeFree | We have evaluated five real-time ARMS assays: BRAF 1799T>A, [this includes V600E and V600K] and NRAS 182A>G [Q61R] and 181C>A [Q61K] in melanoma, EGFR 2573T>G [L858R], 2235-2249del15 [E746-A750del] in non-small-cell lung cancer, and compared the results to DNA sequencing of the mutation 'hot-spots' in these genes in formalin-fixed paraffin-embedded tumour (FF-PET) DNA. | 0.235804412 | 2010 | NRAS | 1 | 114713909 | G | T,C |
| rs121913254 | 25189354 | 1029 | CDKN2A | umls:C0025202 | BeFree | Here, using a bigenic mouse model system combining mutant oncogenic NRAS(Q61K) (constitutively active RAS) or mutant activated CDK4(R24C/R24C) (prevents binding of CDK4 by kinase inhibitor p16(INK4A)) with an epidermis-specific knockout of the nuclear retinoid X receptor alpha (RXRα(ep-/-)) results in increased melanoma formation after chronic ultraviolet-B (UVB) irradiation compared with control mice with functional RXRα. | 0.36 | 2015 | NRAS | 1 | 114713909 | G | T,C |
| rs121913254 | 25537510 | 4893 | NRAS | umls:C0025202 | BeFree | In this study, we performed an integrative analysis of DNA methylation, gene expression, and microRNA expression data to identify potential regulatory pathways associated with the most common driver mutations in NRAS (Q61K/L/R) through comparison of NRASQ61-mutated melanomas with pan-negative melanomas. | 0.235804412 | 2015 | NRAS | 1 | 114713909 | G | T,C |
| rs121913254 | 23855428 | 4893 | NRAS | umls:C0025202 | BeFree | Mutation in BRAF and NRAS was present in 43% (88% V600E, 10% V600K) and 30% (48% Q61K, 40% Q61R) of metastatic melanomas, respectively. | 0.235804412 | 2013 | NRAS | 1 | 114713909 | G | T,C |
| rs121913254 | 25189354 | 6256 | RXRA | umls:C0025202 | BeFree | Here, using a bigenic mouse model system combining mutant oncogenic NRAS(Q61K) (constitutively active RAS) or mutant activated CDK4(R24C/R24C) (prevents binding of CDK4 by kinase inhibitor p16(INK4A)) with an epidermis-specific knockout of the nuclear retinoid X receptor alpha (RXRα(ep-/-)) results in increased melanoma formation after chronic ultraviolet-B (UVB) irradiation compared with control mice with functional RXRα. | 0.000271442 | 2015 | NRAS | 1 | 114713909 | G | T,C |
| rs121913254 | 18668139 | 4893 | NRAS | umls:C0025202 | BeFree | In summary, this report indicates that N-RAS(Q61K) and B-RAF(V600E) contribute to melanoma's resistance to apoptosis in part by downregulating Bim expression, suggesting that Bim is a possible treatment target for overriding melanoma's inherent defenses against cell death. | 0.235804412 | 2009 | NRAS | 1 | 114713909 | G | T,C |
| rs121913254 | 18668139 | 6635 | SNRPE | umls:C0025202 | BeFree | In summary, this report indicates that N-RAS(Q61K) and B-RAF(V600E) contribute to melanoma's resistance to apoptosis in part by downregulating Bim expression, suggesting that Bim is a possible treatment target for overriding melanoma's inherent defenses against cell death. | 0.025244094 | 2009 | NRAS | 1 | 114713909 | G | T,C |
| rs121913279 | 25472943 | 5728 | PTEN | umls:C0025202 | BeFree | Although BRAF(V600E)/PIK3CA(H1047R) melanomas were sensitive to the antiproliferative effects of selective PI3Kα blockade, inhibition of BRAF(V600E)/PTEN(Null) melanoma proliferation required combined blockade of PI3Kα, PI3Kδ, and PI3Kγ, and was insensitive to PI3Kβ blockade. | 0.272069867 | 2015 | PIK3CA | 3 | 179234297 | A | G,T |
| rs121913343 | 24858661 | 7157 | TP53 | umls:C0025202 | BeFree | Two new mutations, the G542E exon 12 mutation variant of the FGFR2 gene and the R273C mutation variant of the p53 gene, are reported for the first time in BRAF mutant melanoma. | 0.226174462 | 2015 | TP53 | 17 | 7673803 | G | T,A |
| rs121913377 | 15948220 | 673 | BRAF | umls:C0025202 | BeFree | In total, we found 21 (70%) out of 30 melanoma cell lines with BRAF mutations in exon 15: two of which were the p.Val600Asp (c.1799-800TG>AT) mutation, one cell line contained the p.Val600Arg (c.1798-99GT>AG) mutation, and 18 cell lines contained the p.Val600Glu (c.1799T>A) mutation. | 0.430771416 | 2005 | NA | NA | NA | NA | NA |
| rs121913377 | 23317446 | 673 | BRAF | umls:C0025202 | BeFree | Effect of dabrafenib on melanoma cell lines harbouring the BRAF(V600D/R) mutations. | 0.430771416 | 2013 | NA | NA | NA | NA | NA |
| rs121913377 | 23624923 | 6739 | SSAV1 | umls:C0025202 | BeFree | Preclinical studies revealed that GLV-1h68 combined with radiotherapy significantly increased cytotoxicity and apoptosis relative to either single agent in (V600D)BRAF/(V600E)BRAF mutant melanoma in vitro and in vivo. | 0.000271442 | 2013 | NA | NA | NA | NA | NA |
| rs121913377 | 23624923 | 5599 | MAPK8 | umls:C0025202 | BeFree | Synergistic cytotoxicity of radiation and oncolytic Lister strain vaccinia in (V600D/E)BRAF mutant melanoma depends on JNK and TNF-α signaling. | 0.005438769 | 2013 | NA | NA | NA | NA | NA |
| rs121913377 | 23624923 | 673 | BRAF | umls:C0025202 | BeFree | Synergistic cytotoxicity of radiation and oncolytic Lister strain vaccinia in (V600D/E)BRAF mutant melanoma depends on JNK and TNF-α signaling. | 0.430771416 | 2013 | NA | NA | NA | NA | NA |
| rs121913378 | 21750866 | 673 | BRAF | umls:C0151779 | BeFree | The classical V600E BRAF mutation was not found; instead a novel V600L was observed suggesting that the oncogenic event in OMM is different from that in skin melanoma. | 0.016557954 | 2011 | BRAF | 7 | 140753337 | C | T,A |
| rs121913512 | 23940219 | 3815 | KIT | umls:C0025202 | BeFree | However, Sanger sequencing of KIT exons 9, 11, 13, and 17, performed as screening for a clinical trial enrolling patients with metastatic acral and mucosal melanomas, showed an exon 13 K642E mutation. | 0.068027135 | 2013 | KIT | 4 | 54728055 | A | G |
| rs121913513 | 19671763 | 3815 | KIT | umls:C0025202 | BeFree | Activity of dasatinib against L576P KIT mutant melanoma: molecular, cellular, and clinical correlates. | 0.068027135 | 2009 | KIT | 4 | 54727495 | T | C |
| rs121913513 | 17372901 | 3815 | KIT | umls:C0025202 | BeFree | L576P KIT mutation in anal melanomas correlates with KIT protein expression and is sensitive to specific kinase inhibition. | 0.068027135 | 2007 | KIT | 4 | 54727495 | T | C |
| rs12203592 | 21270109 | 4157 | MC1R | umls:C0025202 | BeFree | Along with two known pigmentation loci, MC1R and OCA2, the IRF4 rs12203592 T allele was associated with an increased risk of each type of skin cancer (P value, 6.6 × 10(-4) for melanoma, 7.0 × 10(-7) for SCC, and 0.04 for BCC). | 0.284044374 | 2011 | IRF4 | 6 | 396321 | C | T |
| rs12203592 | 21270109 | 4948 | OCA2 | umls:C0025202 | BeFree | Along with two known pigmentation loci, MC1R and OCA2, the IRF4 rs12203592 T allele was associated with an increased risk of each type of skin cancer (P value, 6.6 × 10(-4) for melanoma, 7.0 × 10(-7) for SCC, and 0.04 for BCC). | 0.019555084 | 2011 | IRF4 | 6 | 396321 | C | T |
| rs12203592 | 20647408 | 3662 | IRF4 | umls:C0025202 | GAD | [SNPs on chromosome 6, 9 and 22 were shown to be associated with nevi, but explain only a small proportion of melanoma risk and nevus phenotype suggesting other nevus genes remain to be identified.] | 0.011182656 | 2010 | IRF4 | 6 | 396321 | C | T |
| rs12203592 | 21270109 | 3662 | IRF4 | umls:C0025202 | BeFree | Along with two known pigmentation loci, MC1R and OCA2, the IRF4 rs12203592 T allele was associated with an increased risk of each type of skin cancer (P value, 6.6 × 10(-4) for melanoma, 7.0 × 10(-7) for SCC, and 0.04 for BCC). | 0.011182656 | 2011 | IRF4 | 6 | 396321 | C | T |
| rs12203592 | 20602913 | 128368 | OR10Z1 | umls:C0025202 | BeFree | In combined analysis of melanoma case-control data from Australia, the UK, and Sweden, the rs12203592(*)C allele was associated with melanoma (odds ratio [OR] 1.15, p = 4 x 10(-3)), most significantly on the trunk (OR = 1.33, p = 2.5 x 10(-5)). | 0.000271442 | 2010 | IRF4 | 6 | 396321 | C | T |
| rs12203592 | 23537197 | 142 | PARP1 | umls:C0025202 | BeFree | Genetic variants in PARP1 (rs3219090) and IRF4 (rs12203592) genes associated with melanoma susceptibility in a Spanish population. | 0.125352893 | 2013 | IRF4 | 6 | 396321 | C | T |
| rs12203592 | 23537197 | 3662 | IRF4 | umls:C0025202 | BeFree | Genetic variants in PARP1 (rs3219090) and IRF4 (rs12203592) genes associated with melanoma susceptibility in a Spanish population. | 0.011182656 | 2013 | IRF4 | 6 | 396321 | C | T |
| rs12512631 | 23544077 | 2638 | GC | umls:C0025202 | BeFree | rs12512631 on the group specific complement (vitamin D-binding protein GC) implicated in melanoma susceptibility. | 0.000814326 | 2013 | NA | 4 | 71735614 | T | C |
| rs12512631 | 23544077 | 2638 | GC | umls:C0151779 | BeFree | We found association between SNP rs12512631, located 3'downstream of GC, and risk of CM that seems to fit a dominant model (OR 1.63 95%CI 1.23-2.17 p-value 7×10(-4)). | 0.000542884 | 2013 | NA | 4 | 71735614 | T | C |
| rs12628 | 22618666 | 3265 | HRAS | umls:C0025202 | BeFree | Association between HRAS rs12628 and rs112587690 polymorphisms with the risk of melanoma in the North American population. | 0.006243163 | 2012 | HRAS;LRRC56 | 11 | 534242 | A | G |
| rs13016963 | 21983787 | 130540 | ALS2CR12 | umls:C0025202 | GAD | [Genome-wide association study identifies three new melanoma susceptibility loci.] | 0.122367032 | 2011 | ALS2CR12 | 2 | 201298088 | A | G |
| rs13016963 | 21983787 | 130540 | ALS2CR12 | umls:C0025202 | GWASCAT | Genome-wide association study identifies three new melanoma susceptibility loci. | 0.122367032 | 2011 | ALS2CR12 | 2 | 201298088 | A | G |
| rs13181 | 25169498 | 2068 | ERCC2 | umls:C0151779 | BeFree | The present meta-analysis suggests that the XPD Lys751Gln polymorphism may contribute to the risk of cutaneous melanoma from currently available evidence. | 0.001357209 | 2015 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 25169498 | 2068 | ERCC2 | umls:C0025202 | BeFree | The present meta-analysis suggests that the XPD Lys751Gln polymorphism may contribute to the risk of cutaneous melanoma from currently available evidence. | 0.032376323 | 2015 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 21390047 | 2073 | ERCC5 | umls:C0025202 | BeFree | ERCC5 p.Asp1104His and ERCC2 p.Lys751Gln polymorphisms are independent prognostic factors for the clinical course of melanoma. | 0.008458305 | 2011 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 21390047 | 2068 | ERCC2 | umls:C0025202 | BeFree | ERCC5 p.Asp1104His and ERCC2 p.Lys751Gln polymorphisms are independent prognostic factors for the clinical course of melanoma. | 0.032376323 | 2011 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 23494240 | 2068 | ERCC2 | umls:C0151779 | BeFree | Comprehensive assessment of the association of ERCC2 Lys751Gln polymorphism with susceptibility to cutaneous melanoma. | 0.001357209 | 2013 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 23494240 | 2068 | ERCC2 | umls:C0025202 | BeFree | Comprehensive assessment of the association of ERCC2 Lys751Gln polymorphism with susceptibility to cutaneous melanoma. | 0.032376323 | 2013 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs137852314 | 23693134 | 2539 | G6PD | umls:C0025202 | BeFree | HEM (human epidermal melanocyte) cells and human melanoma cells with the wild-type G6PD gene (A375-WT), G6PD deficiency (A375-G6PD∆), G6PD cDNA overexpression (A375-G6PD∆-G6PD-WT), and mutant G6PD cDNA (A375-G6PD∆-G6PD-G487A) were subcutaneously injected into 5 groups of nude mice. | 0.000814326 | 2013 | G6PD | X | 154534495 | C | T |
| rs1393350 | 21983787 | 7299 | TYR | umls:C0025202 | GWASCAT | Genome-wide association study identifies three new melanoma susceptibility loci. | 0.342096784 | 2011 | TYR | 11 | 89277878 | G | A |
| rs1393350 | 19578364 | 7299 | TYR | umls:C0025202 | GAD | [MC1R and TYR are associated with pigmentation, freckling and cutaneous sun sensitivity, well-recognized melanoma risk factors.] | 0.342096784 | 2009 | TYR | 11 | 89277878 | G | A |
| rs1393350 | 19578364 | 7299 | TYR | umls:C0025202 | GWASCAT | MC1R and TYR are associated with pigmentation, freckling and cutaneous sun sensitivity, well-recognized melanoma risk factors. | 0.342096784 | 2009 | TYR | 11 | 89277878 | G | A |
| rs1393350 | 21983787 | 7299 | TYR | umls:C0025202 | GAD | [Genome-wide association study identifies three new melanoma susceptibility loci.] | 0.342096784 | 2011 | TYR | 11 | 89277878 | G | A |
| rs1408799 | 19384953 | 51151 | SLC45A2 | umls:C0025202 | BeFree | We observed that the TYRP1 rs1408799 and SLC45A2 1721 C>G were associated with melanoma risk (OR, 0.77; 95% CI, 0.60-0.98 and OR, 0.75; 95% CI, 0.60-0.95, respectively). | 0.26162693 | 2009 | NA | 9 | 12672097 | T | C |
| rs1408799 | 19384953 | 7306 | TYRP1 | umls:C0025202 | BeFree | We observed that the TYRP1 rs1408799 and SLC45A2 1721 C>G were associated with melanoma risk (OR, 0.77; 95% CI, 0.60-0.98 and OR, 0.75; 95% CI, 0.60-0.95, respectively). | 0.021692944 | 2009 | NA | 9 | 12672097 | T | C |
| rs147198552 | 19305148 | 7852 | CXCR4 | umls:C0025202 | BeFree | The same somatic point mutation (G574A; V160I) in the fourth transmembrane region of CXCR4 was detected in one colon cancer cell line (PD) and one melanoma cell line (LB). | 0.023684964 | 2009 | CXCR4 | 2 | 136115450 | C | T |
| rs147405090 | 21499247 | 8295 | TRRAP | umls:C0025202 | BeFree | Most importantly, we discovered that TRRAP harbored a recurrent mutation that clustered in one position (p. Ser722Phe) in 6 out of 167 affected individuals (∼4%), as well as a previously unidentified gene, GRIN2A, which was mutated in 33% of melanoma samples. | 0.120271442 | 2011 | TRRAP | 7 | 98912179 | C | T |
| rs149617956 | 24406078 | 4286 | MITF | umls:C0025202 | BeFree | MITF E318K's effect on melanoma risk independent of, but modified by, other risk factors. | 0.074352293 | 2014 | MITF | 3 | 69964940 | G | A |
| rs149617956 | 24767713 | 4286 | MITF | umls:C0025202 | BeFree | The E318K mutation in the MITF gene has been associated with a high risk of melanoma, renal cell carcinoma, and pancreatic cancer; the risk of other cancers has not been evaluated so far. | 0.074352293 | 2014 | MITF | 3 | 69964940 | G | A |
| rs149617956 | 25803691 | 4286 | MITF | umls:C0025202 | BeFree | The MITF p.E318K variant similarly occurred at an approximately three-fold higher frequency in melanoma cases than controls. | 0.074352293 | 2015 | MITF | 3 | 69964940 | G | A |
| rs151322829 | 21858661 | 22909 | FAN1 | umls:C0025202 | BeFree | In one family, FAN1 R377W, predicted to be damaging by SIFT and PolyPhen2, was present in all six tested members with cancer (five with breast cancer, one with malignant melanoma). | 0.000271442 | 2011 | FAN1 | 15 | 30905792 | C | T |
| rs16891982 | 23786662 | 51151 | SLC45A2 | umls:C0025202 | BeFree | The correlation of the rs16891982 SNP in the SLC45A2 gene with melanoma was used as a case study for analysis of disease risk, and the results were consistent with the incidence and mortality rates of melanoma in published scientific literature. | 0.26162693 | 2013 | SLC45A2 | 5 | 33951588 | C | G |
| rs16891982 | 19578363 | 51151 | SLC45A2 | umls:C0025202 | BeFree | A melanoma- and pigmentation-associated variant in the SLC45A2 gene, L374F, is associated with risk of both BCC and squamous cell carcinoma. | 0.26162693 | 2009 | SLC45A2 | 5 | 33951588 | C | G |
| rs1695 | 19484507 | 2944 | GSTM1 | umls:C0025202 | BeFree | No significant effect of null GSTM1 allele and GSTP1 variants (p.I105V, p.A114V) on melanoma risk was found. | 0.010901282 | 2009 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 23568549 | 7157 | TP53 | umls:C0151779 | BeFree | Assessment of the XPC (A2920C), XPF (T30028C), TP53 (Arg72Pro) and GSTP1 (Ile105Val) polymorphisms in the risk of cutaneous melanoma. | 0.006243163 | 2013 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 23568549 | 2072 | ERCC4 | umls:C0151779 | BeFree | Assessment of the XPC (A2920C), XPF (T30028C), TP53 (Arg72Pro) and GSTP1 (Ile105Val) polymorphisms in the risk of cutaneous melanoma. | 0.000271442 | 2013 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 22251241 | 2950 | GSTP1 | umls:C0025202 | BeFree | Role of glutathione S-transferases in melanoma susceptibility: association with GSTP1 rs1695 polymorphism. | 0.011539974 | 2012 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 23568549 | 7157 | TP53 | umls:C0025202 | BeFree | Assessment of the XPC (A2920C), XPF (T30028C), TP53 (Arg72Pro) and GSTP1 (Ile105Val) polymorphisms in the risk of cutaneous melanoma. | 0.226174462 | 2013 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 23568549 | 2950 | GSTP1 | umls:C0151779 | BeFree | Assessment of the XPC (A2920C), XPF (T30028C), TP53 (Arg72Pro) and GSTP1 (Ile105Val) polymorphisms in the risk of cutaneous melanoma. | 0.000271442 | 2013 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 23568549 | 7508 | XPC | umls:C0025202 | BeFree | Assessment of the XPC (A2920C), XPF (T30028C), TP53 (Arg72Pro) and GSTP1 (Ile105Val) polymorphisms in the risk of cutaneous melanoma. | 0.013735253 | 2013 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 23568549 | 2950 | GSTP1 | umls:C0025202 | BeFree | Assessment of the XPC (A2920C), XPF (T30028C), TP53 (Arg72Pro) and GSTP1 (Ile105Val) polymorphisms in the risk of cutaneous melanoma. | 0.011539974 | 2013 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 23568549 | 2072 | ERCC4 | umls:C0025202 | BeFree | Assessment of the XPC (A2920C), XPF (T30028C), TP53 (Arg72Pro) and GSTP1 (Ile105Val) polymorphisms in the risk of cutaneous melanoma. | 0.008186863 | 2013 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 19484507 | 2950 | GSTP1 | umls:C0025202 | BeFree | No significant effect of null GSTM1 allele and GSTP1 variants (p.I105V, p.A114V) on melanoma risk was found. | 0.011539974 | 2009 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 23568549 | 7508 | XPC | umls:C0151779 | BeFree | Assessment of the XPC (A2920C), XPF (T30028C), TP53 (Arg72Pro) and GSTP1 (Ile105Val) polymorphisms in the risk of cutaneous melanoma. | 0.000814326 | 2013 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 22251241 | 4157 | MC1R | umls:C0025202 | BeFree | Furthermore, individuals carrying one or two MC1R nonsynonymous changes and GSTP1 rs1695 rare allele had an increased risk of developing MM (OR: 3·34, 95% CI: 1·42-8·09 and OR: 20·42, 95% CI: 2·80-417·42, respectively). | 0.284044374 | 2012 | GSTP1 | 11 | 67585218 | A | G |
| rs16953002 | 23455637 | 79068 | FTO | umls:C0025202 | GWASCAT | A variant in FTO shows association with melanoma risk not due to BMI. | 0.240814326 | 2013 | FTO | 16 | 54080912 | G | A |
| rs1722784 | 21926416 | 8416 | ANXA9 | umls:C0025202 | GAD | [In a discovery cohort of 1804 melanoma cases and 1026 controls, we identified loci at chromosomes 15q13.1 (HERC2/OCA2 region) and 16q24.3 (MC1R) regions that reached genome-wide significance within this study and also found strong evidence for genetic effects on susceptibility to melanoma from markers on chromosome 9p21.3 in the p16/ARF region and on chromosome 1q21.3 (ARNT/LASS2/ANXA9 region).] | 0.002638474 | 2011 | ANXA9 | 1 | 150989393 | A | G |
| rs17655 | 25231183 | 2073 | ERCC5 | umls:C0025202 | BeFree | Current evidences on the XPG Asp1104His polymorphism and melanoma susceptibility: a meta-analysis based on case-control studies. | 0.008458305 | 2014 | ERCC5;BIVM-ERCC5 | 13 | 102875652 | G | C |
| rs17655 | 21390047 | 2073 | ERCC5 | umls:C0025202 | BeFree | ERCC5 p.Asp1104His and ERCC2 p.Lys751Gln polymorphisms are independent prognostic factors for the clinical course of melanoma. | 0.008458305 | 2011 | ERCC5;BIVM-ERCC5 | 13 | 102875652 | G | C |
| rs17655 | 21390047 | 2068 | ERCC2 | umls:C0025202 | BeFree | ERCC5 p.Asp1104His and ERCC2 p.Lys751Gln polymorphisms are independent prognostic factors for the clinical course of melanoma. | 0.032376323 | 2011 | ERCC5;BIVM-ERCC5 | 13 | 102875652 | G | C |
| rs1799782 | 22687647 | 4595 | MUTYH | umls:C0025202 | BeFree | We hypothesized that common nsSNPs of BER genes, specifically ADPRT rs1136410, XRCC1 rs25487, rs25489, rs1799782, APEX1 rs1130409, OGG1 rs1052133, LIG3 rs3136025 and MUTYH rs3219466, may contribute to risk of melanoma. | 0.000542884 | 2012 | XRCC1 | 19 | 43553422 | G | A |
| rs1799939 | 22189301 | 5979 | RET | umls:C0151779 | BeFree | A polymorphism, RETp (G691S), in the intracellular juxtamembrane domain of RET, which enhances signaling by glial cell-derived neurotrophic factor has been described and studied previously in pancreatic cancer, medullary thyroid cancer, the multiple endocrine neoplasia 2 syndromes, and recently in cutaneous malignant melanoma. | 0.000814326 | 2012 | RET | 10 | 43114671 | G | A |
| rs1799939 | 22189301 | 2668 | GDNF | umls:C0151779 | BeFree | A polymorphism, RETp (G691S), in the intracellular juxtamembrane domain of RET, which enhances signaling by glial cell-derived neurotrophic factor has been described and studied previously in pancreatic cancer, medullary thyroid cancer, the multiple endocrine neoplasia 2 syndromes, and recently in cutaneous malignant melanoma. | 0.000542884 | 2012 | RET | 10 | 43114671 | G | A |
| rs1799939 | 19561646 | 5979 | RET | umls:C0151779 | BeFree | Functional RET G691S polymorphism in cutaneous malignant melanoma. | 0.000814326 | 2009 | RET | 10 | 43114671 | G | A |
| rs1800054 | 18565893 | 472 | ATM | umls:C0025202 | BeFree | Multifactorially adjusted hazard ratios for ATM Ser49Cys heterozygotes versus noncarriers were 1.2 (95% CI, 0.9 to 1.5) for cancer overall, 0.8 (95% CI, 0.3 to 2.0) for breast cancer, 4.8 (95% CI, 2.2 to 11) for melanoma, 2.3 (95% CI, 1.1 to 5.0) for prostate cancer, and 3.4 (95% CI, 1.1 to 11) for cancer of the oral cavity/pharynx. | 0.245895776 | 2008 | ATM | 11 | 108227849 | C | G,T |
| rs1800407 | 19320733 | 4948 | OCA2 | umls:C0025202 | BeFree | We found that the variant allele of OCA2 R419Q (rs1800407) was associated with increased risk of MM (OR 1.55, 95% CI 1.04-2.31, P = 0.03). | 0.019555084 | 2009 | OCA2 | 15 | 27985172 | C | T |
| rs1800414 | 24617981 | 4948 | OCA2 | umls:C0025202 | BeFree | A non-synonymous variant, H615R in the oculocutaneous albinism 2 gene (OCA2), was associated with the risk of malignant melanoma in the Yamagata group (odds ratio [OR], 0.38; 95% confidence interval [CI], 0.17-0.86; P = 0.020). | 0.019555084 | 2014 | OCA2 | 15 | 27951891 | T | C,A |
| rs1800872 | 19458621 | 3586 | IL10 | umls:C0151779 | BeFree | We investigated the role of a haplotype from distal as well as proximal polymorphic sites [-7400InDel, -6752AT (rs6676671), -3538AT (rs1800890), -1087AG (rs1800896), -597AC (rs1800872)] of the IL-10 5'-flanking region in a hospital-based case-control study of 165 Caucasian patients with cutaneous melanoma from Germany in comparison with 162 healthy cancer-free Caucasian control participants from the same area matched by age. | 0.001085767 | 2009 | IL10 | 1 | 206773062 | T | G |
| rs1800890 | 19458621 | 3586 | IL10 | umls:C0151779 | BeFree | We investigated the role of a haplotype from distal as well as proximal polymorphic sites [-7400InDel, -6752AT (rs6676671), -3538AT (rs1800890), -1087AG (rs1800896), -597AC (rs1800872)] of the IL-10 5'-flanking region in a hospital-based case-control study of 165 Caucasian patients with cutaneous melanoma from Germany in comparison with 162 healthy cancer-free Caucasian control participants from the same area matched by age. | 0.001085767 | 2009 | IL10 | 1 | 206776020 | A | T |
| rs1800896 | 19458621 | 3586 | IL10 | umls:C0151779 | BeFree | We investigated the role of a haplotype from distal as well as proximal polymorphic sites [-7400InDel, -6752AT (rs6676671), -3538AT (rs1800890), -1087AG (rs1800896), -597AC (rs1800872)] of the IL-10 5'-flanking region in a hospital-based case-control study of 165 Caucasian patients with cutaneous melanoma from Germany in comparison with 162 healthy cancer-free Caucasian control participants from the same area matched by age. | 0.001085767 | 2009 | IL10 | 1 | 206773552 | T | C |
| rs1801516 | 23537197 | 472 | ATM | umls:C0025202 | BeFree | Finally, rs1801516, located on the ATM gene, showed a trend towards a protective role in MM similar to the one firstly described in a GWAS study. | 0.245895776 | 2013 | ATM | 11 | 108304735 | G | A |
| rs1801516 | 21983787 | 472 | ATM | umls:C0025202 | GWASCAT | Genome-wide association study identifies three new melanoma susceptibility loci. | 0.245895776 | 2011 | ATM | 11 | 108304735 | G | A |
| rs1801516 | 21983787 | 472 | ATM | umls:C0025202 | GAD | [Genome-wide association study identifies three new melanoma susceptibility loci.] | 0.245895776 | 2011 | ATM | 11 | 108304735 | G | A |
| rs1805005 | 24045876 | 4157 | MC1R | umls:C0025202 | BeFree | Simultaneous purifying selection on the ancestral MC1R allele and positive selection on the melanoma-risk allele V60L in south Europeans. | 0.284044374 | 2014 | MC1R | 16 | 89919436 | G | T |
| rs1805005 | 24170137 | 6006 | RHCE | umls:C0025202 | BeFree | We aim to examine the influence of the MC1R variants (RHC: D84E, R151C, R160W; NRHC: V60L, R163Q and the synonymous polymorphism T314T) on the MM risk in a population from the Canary Islands. | 0.000814326 | 2013 | MC1R | 16 | 89919436 | G | T |
| rs1805006 | 24170137 | 6006 | RHCE | umls:C0025202 | BeFree | We aim to examine the influence of the MC1R variants (RHC: D84E, R151C, R160W; NRHC: V60L, R163Q and the synonymous polymorphism T314T) on the MM risk in a population from the Canary Islands. | 0.000814326 | 2013 | MC1R | 16 | 89919510 | C | A,G |
| rs1805006 | 8894704 | 4157 | MC1R | umls:C0025202 | BeFree | The Asp84Glu variant of the melanocortin 1 receptor (MC1R) is associated with melanoma. | 0.284044374 | 1996 | MC1R | 16 | 89919510 | C | A,G |
| rs1805007 | 11179997 | 4157 | MC1R | umls:C0025202 | BeFree | MC1R gene variants have previously been associated with red hair and fair skin color, moreover skin ultraviolet sensitivity and a strong association with melanoma has been demonstrated for three variant alleles that are active in influencing pigmentation: Arg151Cys, Arg160Trp, and Asp294His. | 0.284044374 | 2001 | MC1R | 16 | 89919709 | C | G,T |
| rs1805007 | 24170137 | 6006 | RHCE | umls:C0025202 | BeFree | We aim to examine the influence of the MC1R variants (RHC: D84E, R151C, R160W; NRHC: V60L, R163Q and the synonymous polymorphism T314T) on the MM risk in a population from the Canary Islands. | 0.000814326 | 2013 | MC1R | 16 | 89919709 | C | G,T |
| rs1805007 | 17492760 | 4157 | MC1R | umls:C0025202 | BeFree | Furthermore, we observed that a carrier of the founder CDKN2A [p.Leu113Leu;p.Pro114Ser] mutation as well as two MC1R moderate-risk variants, [p.Arg151Cys(+)p.Arg163Gln] developed 22 primary melanomas in the three years that followed initiation of levodopa therapy for Parkinson's disease. | 0.284044374 | 2007 | MC1R | 16 | 89919709 | C | G,T |
| rs1805007 | 19799798 | 4157 | MC1R | umls:C0025202 | BeFree | Two MC1R germline variants, Arg151Cys and Asp294His, were significantly associated with melanoma in Sardinia. | 0.284044374 | 2009 | MC1R | 16 | 89919709 | C | G,T |
| rs1805007 | 22621339 | 4157 | MC1R | umls:C0025202 | BeFree | Furthermore, a non-significant tendency towards an association between melanoma risk and MC1R variants G274A and C451T and a non-significant linear tendency to the number of infrequent high-risk variants in MC1R were observed. | 0.284044374 | 2013 | MC1R | 16 | 89919709 | C | G,T |
| rs1805008 | 25631192 | 4157 | MC1R | umls:C0025202 | BeFree | The MC1R melanoma risk variant p.R160W is associated with Parkinson disease. | 0.284044374 | 2015 | MC1R | 16 | 89919736 | C | T |
| rs1805008 | 11179997 | 4157 | MC1R | umls:C0025202 | BeFree | MC1R gene variants have previously been associated with red hair and fair skin color, moreover skin ultraviolet sensitivity and a strong association with melanoma has been demonstrated for three variant alleles that are active in influencing pigmentation: Arg151Cys, Arg160Trp, and Asp294His. | 0.284044374 | 2001 | MC1R | 16 | 89919736 | C | T |
| rs1805008 | 24170137 | 6006 | RHCE | umls:C0025202 | BeFree | We aim to examine the influence of the MC1R variants (RHC: D84E, R151C, R160W; NRHC: V60L, R163Q and the synonymous polymorphism T314T) on the MM risk in a population from the Canary Islands. | 0.000814326 | 2013 | MC1R | 16 | 89919736 | C | T |
| rs1805009 | 11179997 | 4157 | MC1R | umls:C0025202 | BeFree | MC1R gene variants have previously been associated with red hair and fair skin color, moreover skin ultraviolet sensitivity and a strong association with melanoma has been demonstrated for three variant alleles that are active in influencing pigmentation: Arg151Cys, Arg160Trp, and Asp294His. | 0.284044374 | 2001 | MC1R;TUBB3 | 16 | 89920138 | G | A,C |
| rs1805009 | 19799798 | 4157 | MC1R | umls:C0025202 | BeFree | Two MC1R germline variants, Arg151Cys and Asp294His, were significantly associated with melanoma in Sardinia. | 0.284044374 | 2009 | MC1R;TUBB3 | 16 | 89920138 | G | A,C |
| rs181860403 | 24170137 | 6006 | RHCE | umls:C0025202 | BeFree | We aim to examine the influence of the MC1R variants (RHC: D84E, R151C, R160W; NRHC: V60L, R163Q and the synonymous polymorphism T314T) on the MM risk in a population from the Canary Islands. | 0.000814326 | 2013 | RHCE | 1 | 25408840 | G | T |
| rs1847134 | 24980573 | 7299 | TYR | umls:C0025202 | GWASCAT | Identification of a melanoma susceptibility locus and somatic mutation in TET2. | 0.342096784 | 2014 | TYR | 11 | 89272085 | A | C |
| rs1982151 | 17900800 | 80010 | RMI1 | umls:C0025202 | BeFree | Genetic variant of the human homologous recombination-associated gene RMI1 (S455N) impacts the risk of AML/MDS and malignant melanoma. | 0.005362824 | 2007 | RMI1 | 9 | 84002350 | A | G |
| rs1990330 | 25628125 | 7003 | TEAD1 | umls:C0151779 | BeFree | We found a predictive role of YAP1 rs11225163 CC, TEAD1 rs7944031 AG+GG and TEAD4 rs1990330 CA+AA in the prognosis of CM. | 0.000271442 | 2014 | TEAD4 | 12 | 3038296 | A | C |
| rs1990330 | 25628125 | 7004 | TEAD4 | umls:C0151779 | BeFree | We found a predictive role of YAP1 rs11225163 CC, TEAD1 rs7944031 AG+GG and TEAD4 rs1990330 CA+AA in the prognosis of CM. | 0.000271442 | 2014 | TEAD4 | 12 | 3038296 | A | C |
| rs1990330 | 25628125 | 10413 | YAP1 | umls:C0151779 | BeFree | We found a predictive role of YAP1 rs11225163 CC, TEAD1 rs7944031 AG+GG and TEAD4 rs1990330 CA+AA in the prognosis of CM. | 0.000542884 | 2014 | TEAD4 | 12 | 3038296 | A | C |
| rs1990760 | 24621100 | 64135 | IFIH1 | umls:C0025202 | BeFree | We investigated the association of polymorphisms in three pattern recognition receptor (PRR) genes-toll-like receptor 3 (TLR3) (rs3775291), retinoic acid-inducible gene I (RIG-I) (rs10813831) and melanoma differentiation-associated gene 5 (MDA5) (rs1990760)-with the severity of EV71 infection. | 0.015210676 | 2014 | IFIH1 | 2 | 162267541 | C | T |
| rs1990760 | 24621100 | 5920 | RARRES3 | umls:C0025202 | BeFree | We investigated the association of polymorphisms in three pattern recognition receptor (PRR) genes-toll-like receptor 3 (TLR3) (rs3775291), retinoic acid-inducible gene I (RIG-I) (rs10813831) and melanoma differentiation-associated gene 5 (MDA5) (rs1990760)-with the severity of EV71 infection. | 0.009229024 | 2014 | IFIH1 | 2 | 162267541 | C | T |
| rs1990760 | 24621100 | 8856 | NR1I2 | umls:C0025202 | BeFree | We investigated the association of polymorphisms in three pattern recognition receptor (PRR) genes-toll-like receptor 3 (TLR3) (rs3775291), retinoic acid-inducible gene I (RIG-I) (rs10813831) and melanoma differentiation-associated gene 5 (MDA5) (rs1990760)-with the severity of EV71 infection. | 0.001628651 | 2014 | IFIH1 | 2 | 162267541 | C | T |
| rs200033105 | 15880589 | 1384 | CRAT | umls:C0025202 | BeFree | In this article, we report that CDK4 codon 24 is mutated from CGT to CAT (Arg24His) in this unusually large melanoma kindred. | 0.000814326 | 2005 | CRAT | 9 | 129108025 | C | T |
| rs200033105 | 15880589 | 7368 | UGT8 | umls:C0025202 | BeFree | In this article, we report that CDK4 codon 24 is mutated from CGT to CAT (Arg24His) in this unusually large melanoma kindred. | 0.000271442 | 2005 | CRAT | 9 | 129108025 | C | T |
| rs201326893 | 17496785 | 4157 | MC1R | umls:C0025202 | BeFree | In this study, three Jewish individuals were found to harbor an identical truncating MC1R mutation--Y152X: an Ashkenazi patient with two malignant melanomas, a non-Ashkenazi malignant melanoma patient with familial malignant melanoma and her asymptomatic mother. | 0.284044374 | 2007 | MC1R | 16 | 89919714 | C | A |
| rs202042867 | 18657399 | 5443 | POMC | umls:C0151779 | BeFree | The D84E variant of the alpha-MSH receptor 1 gene is associated with cutaneous malignant melanoma early onset. | 0.000271442 | 2008 | POMC | 2 | 25161630 | G | C |
| rs206118 | 25243787 | 2175 | FANCA | umls:C0151779 | BeFree | By performing false-positive report probability corrections and stepwise Cox proportional hazards regression analyses, we identified significant associations between CM OS and four putatively functional SNPs: BRCA2 rs10492396 (AG vs. GG: adjusted hazard ratio (adjHR)=1.85, 95% confidence interval (CI)=1.16-2.95, P=0.010), rs206118 (CC vs. TT+TC: adjHR=2.44, 95% CI=1.27-4.67, P=0.007), rs3752447 (CC vs. TT+TC: adjHR=2.10, 95% CI=1.38-3.18, P=0.0005), and FANCA rs62068372 (TT vs. CC+CT: adjHR=1.85, 95% CI=1.27-2.69, P=0.001). | 0.000271442 | 2014 | BRCA2 | 13 | 32315655 | A | G |
| rs206118 | 25243787 | 675 | BRCA2 | umls:C0151779 | BeFree | By performing false-positive report probability corrections and stepwise Cox proportional hazards regression analyses, we identified significant associations between CM OS and four putatively functional SNPs: BRCA2 rs10492396 (AG vs. GG: adjusted hazard ratio (adjHR)=1.85, 95% confidence interval (CI)=1.16-2.95, P=0.010), rs206118 (CC vs. TT+TC: adjHR=2.44, 95% CI=1.27-4.67, P=0.007), rs3752447 (CC vs. TT+TC: adjHR=2.10, 95% CI=1.38-3.18, P=0.0005), and FANCA rs62068372 (TT vs. CC+CT: adjHR=1.85, 95% CI=1.27-2.69, P=0.001). | 0.000814326 | 2014 | BRCA2 | 13 | 32315655 | A | G |
| rs2107301 | 22576141 | 1591 | CYP24A1 | umls:C0025202 | BeFree | In our hospital-based case-control study including 305 melanoma patients and 370 healthy controls single nucleotide polymorphisms in the genes CYP27B1 (rs4646536), CYP24A1 (rs927650), VDBP (rs1155563, rs7041), and VDR (rs757343, rs731236, rs2107301, rs7975232) were analyzed for their association with melanoma risk and prognosis. | 0.001357209 | 2012 | VDR | 12 | 47861787 | G | A |
| rs2107301 | 22576141 | 1594 | CYP27B1 | umls:C0025202 | BeFree | In our hospital-based case-control study including 305 melanoma patients and 370 healthy controls single nucleotide polymorphisms in the genes CYP27B1 (rs4646536), CYP24A1 (rs927650), VDBP (rs1155563, rs7041), and VDR (rs757343, rs731236, rs2107301, rs7975232) were analyzed for their association with melanoma risk and prognosis. | 0.003800186 | 2012 | VDR | 12 | 47861787 | G | A |
| rs2107301 | 22576141 | 2638 | GC | umls:C0025202 | BeFree | In our hospital-based case-control study including 305 melanoma patients and 370 healthy controls single nucleotide polymorphisms in the genes CYP27B1 (rs4646536), CYP24A1 (rs927650), VDBP (rs1155563, rs7041), and VDR (rs757343, rs731236, rs2107301, rs7975232) were analyzed for their association with melanoma risk and prognosis. | 0.000814326 | 2012 | VDR | 12 | 47861787 | G | A |
| rs2228001 | 24277375 | 7508 | XPC | umls:C0151779 | BeFree | Quantitative assessment of the association between XPC Lys939Gln polymorphism and cutaneous melanoma risk. | 0.000814326 | 2013 | XPC | 3 | 14145949 | G | T |
| rs2228001 | 24277375 | 7508 | XPC | umls:C0025202 | BeFree | Quantitative assessment of the association between XPC Lys939Gln polymorphism and cutaneous melanoma risk. | 0.013735253 | 2013 | XPC | 3 | 14145949 | G | T |
| rs2228479 | 22621339 | 4157 | MC1R | umls:C0025202 | BeFree | Furthermore, a non-significant tendency towards an association between melanoma risk and MC1R variants G274A and C451T and a non-significant linear tendency to the number of infrequent high-risk variants in MC1R were observed. | 0.284044374 | 2013 | MC1R | 16 | 89919532 | G | A,C |
| rs2242652 | 21116649 | 7015 | TERT | umls:C0025202 | BeFree | After correction for multiple testing within each gene, two SNPs in the TERT gene (rs2853676 and rs2242652) and one SNP in the TRF1 gene (rs2981096) showed significant associations with the risk of melanoma. | 0.131596056 | 2011 | TERT | 5 | 1279913 | G | A |
| rs2242652 | 21116649 | 7013 | TERF1 | umls:C0025202 | BeFree | After correction for multiple testing within each gene, two SNPs in the TERT gene (rs2853676 and rs2242652) and one SNP in the TRF1 gene (rs2981096) showed significant associations with the risk of melanoma. | 0.000814326 | 2011 | TERT | 5 | 1279913 | G | A |
| rs2284063 | 19578364 | 8398 | PLA2G6 | umls:C0025202 | GAD | [Genome-wide association study identifies three loci associated with melanoma risk.] | 0.130825337 | 2009 | PLA2G6 | 22 | 38148291 | A | G |
| rs2284063 | 19578364 | 8398 | PLA2G6 | umls:C0025202 | GWASCAT | Genome-wide association study identifies three loci associated with melanoma risk. | 0.130825337 | 2009 | PLA2G6 | 22 | 38148291 | A | G |
| rs2284063 | 20647408 | 8398 | PLA2G6 | umls:C0025202 | GAD | [SNPs on chromosome 6, 9 and 22 were shown to be associated with nevi, but explain only a small proportion of melanoma risk and nevus phenotype suggesting other nevus genes remain to be identified.] | 0.130825337 | 2010 | PLA2G6 | 22 | 38148291 | A | G |
| rs228437 | 21983787 | 6446 | SGK1 | umls:C0025202 | GAD | [Genome-wide association study identifies three new melanoma susceptibility loci.] | 0.002367032 | 2011 | NA | 6 | 134577318 | C | T |
| rs25487 | 22687647 | 4595 | MUTYH | umls:C0025202 | BeFree | We hypothesized that common nsSNPs of BER genes, specifically ADPRT rs1136410, XRCC1 rs25487, rs25489, rs1799782, APEX1 rs1130409, OGG1 rs1052133, LIG3 rs3136025 and MUTYH rs3219466, may contribute to risk of melanoma. | 0.000542884 | 2012 | XRCC1 | 19 | 43551574 | T | C |
| rs25489 | 22687647 | 4595 | MUTYH | umls:C0025202 | BeFree | We hypothesized that common nsSNPs of BER genes, specifically ADPRT rs1136410, XRCC1 rs25487, rs25489, rs1799782, APEX1 rs1130409, OGG1 rs1052133, LIG3 rs3136025 and MUTYH rs3219466, may contribute to risk of melanoma. | 0.000542884 | 2012 | XRCC1 | 19 | 43552260 | C | T,G |
| rs258322 | 24980573 | 8558 | CDK10 | umls:C0025202 | GWASCAT | Identification of a melanoma susceptibility locus and somatic mutation in TET2. | 0.122367032 | 2014 | CDK10 | 16 | 89689495 | A | G |
| rs258322 | 21983787 | 8558 | CDK10 | umls:C0025202 | GWASCAT | Genome-wide association study identifies three new melanoma susceptibility loci. | 0.122367032 | 2011 | CDK10 | 16 | 89689495 | A | G |
| rs258322 | 21983787 | 8558 | CDK10 | umls:C0025202 | GAD | [Genome-wide association study identifies three new melanoma susceptibility loci.] | 0.122367032 | 2011 | CDK10 | 16 | 89689495 | A | G |
| rs258322 | 19578364 | 8558 | CDK10 | umls:C0025202 | GWASCAT | Genome-wide association study identifies three loci associated with melanoma risk. | 0.122367032 | 2009 | CDK10 | 16 | 89689495 | A | G |
| rs267599211 | 25544760 | 9125 | RQCD1 | umls:C0025202 | BeFree | Whole exome sequencing identifies a recurrent RQCD1 P131L mutation in cutaneous melanoma. | 0.000271442 | 2014 | RQCD1 | 2 | 218584683 | C | T |
| rs267599211 | 25544760 | 9125 | RQCD1 | umls:C0151779 | BeFree | Whole exome sequencing identifies a recurrent RQCD1 P131L mutation in cutaneous melanoma. | 0.000271442 | 2014 | RQCD1 | 2 | 218584683 | C | T |
| rs2853676 | 21116649 | 7015 | TERT | umls:C0025202 | BeFree | After correction for multiple testing within each gene, two SNPs in the TERT gene (rs2853676 and rs2242652) and one SNP in the TRF1 gene (rs2981096) showed significant associations with the risk of melanoma. | 0.131596056 | 2011 | TERT | 5 | 1288432 | T | C |
| rs2853676 | 21116649 | 7013 | TERF1 | umls:C0025202 | BeFree | After correction for multiple testing within each gene, two SNPs in the TERT gene (rs2853676 and rs2242652) and one SNP in the TRF1 gene (rs2981096) showed significant associations with the risk of melanoma. | 0.000814326 | 2011 | TERT | 5 | 1288432 | T | C |
| rs28934578 | 18458532 | 596 | BCL2 | umls:C0025202 | BeFree | Since loss of p53 tumor suppressor function or overexpression of the anti-apoptotic bcl-2 gene can decrease susceptibility to some cancer therapies, we now investigated the effect of FNQ against genetically matched C8161 melanoma cell lines transduced to express unequal levels of Bcl-2, or engineered to harbour a functional wt p53 for comparison with dominant-negative mutant p53 R175H. | 0.04077587 | 2008 | TP53 | 17 | 7675088 | C | T,A |
| rs28934578 | 21832879 | 7157 | TP53 | umls:C0025202 | BeFree | Metabolic utilization of exogenous pyruvate by mutant p53 (R175H) human melanoma cells promotes survival under glucose depletion. | 0.226174462 | 2011 | TP53 | 17 | 7675088 | C | T,A |
| rs2910164 | 23222547 | 406938 | MIR146A | umls:C0025202 | BeFree | The rs2910164 G>C polymorphism in microRNA-146a is associated with the incidence of malignant melanoma. | 0.000814326 | 2013 | LOC285628;MIR146A | 5 | 160485411 | C | G |
| rs2981096 | 21116649 | 7013 | TERF1 | umls:C0025202 | BeFree | After correction for multiple testing within each gene, two SNPs in the TERT gene (rs2853676 and rs2242652) and one SNP in the TRF1 gene (rs2981096) showed significant associations with the risk of melanoma. | 0.000814326 | 2011 | TERF1 | 8 | 73027927 | A | G |
| rs2981096 | 21116649 | 7015 | TERT | umls:C0025202 | BeFree | After correction for multiple testing within each gene, two SNPs in the TERT gene (rs2853676 and rs2242652) and one SNP in the TRF1 gene (rs2981096) showed significant associations with the risk of melanoma. | 0.131596056 | 2011 | TERF1 | 8 | 73027927 | A | G |
| rs3088440 | 23816148 | 1029 | CDKN2A | umls:C0025202 | BeFree | Statistically significant association with melanoma risk was also observed for the carriers of the variant T-allele of rs3088440 (540 C>T) at the 3' UTR of CDKN2A gene with an OR 1.52 (95% CI 1.14-2.04). | 0.36 | 2013 | CDKN2A;CDKN2A-AS1 | 9 | 21968160 | G | A |
| rs3136025 | 22687647 | 4595 | MUTYH | umls:C0025202 | BeFree | We hypothesized that common nsSNPs of BER genes, specifically ADPRT rs1136410, XRCC1 rs25487, rs25489, rs1799782, APEX1 rs1130409, OGG1 rs1052133, LIG3 rs3136025 and MUTYH rs3219466, may contribute to risk of melanoma. | 0.000542884 | 2012 | LIG3 | 17 | 35002030 | G | A |
| rs3219090 | 21983785 | 142 | PARP1 | umls:C0025202 | GWASCAT | Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3. | 0.125352893 | 2011 | PARP1 | 1 | 226376990 | T | C |
| rs3219090 | 21983785 | 142 | PARP1 | umls:C0025202 | GAD | [Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3.] | 0.125352893 | 2011 | PARP1 | 1 | 226376990 | T | C |
| rs3219090 | 23537197 | 3662 | IRF4 | umls:C0025202 | BeFree | Genetic variants in PARP1 (rs3219090) and IRF4 (rs12203592) genes associated with melanoma susceptibility in a Spanish population. | 0.011182656 | 2013 | PARP1 | 1 | 226376990 | T | C |
| rs3219090 | 23537197 | 142 | PARP1 | umls:C0025202 | BeFree | Genetic variants in PARP1 (rs3219090) and IRF4 (rs12203592) genes associated with melanoma susceptibility in a Spanish population. | 0.125352893 | 2013 | PARP1 | 1 | 226376990 | T | C |
| rs3219466 | 22687647 | 4595 | MUTYH | umls:C0025202 | BeFree | We hypothesized that common nsSNPs of BER genes, specifically ADPRT rs1136410, XRCC1 rs25487, rs25489, rs1799782, APEX1 rs1130409, OGG1 rs1052133, LIG3 rs3136025 and MUTYH rs3219466, may contribute to risk of melanoma. | 0.000542884 | 2012 | MUTYH;TOE1 | 1 | 45340381 | G | T,A |
| rs35390 | 21983787 | 51151 | SLC45A2 | umls:C0025202 | GAD | [Genome-wide association study identifies three new melanoma susceptibility loci.] | 0.26162693 | 2011 | SLC45A2 | 5 | 33955221 | C | A |
| rs35390 | 21983787 | 51151 | SLC45A2 | umls:C0025202 | GWASCAT | Genome-wide association study identifies three new melanoma susceptibility loci. | 0.26162693 | 2011 | SLC45A2 | 5 | 33955221 | C | A |
| rs3731249 | 12406345 | 1029 | CDKN2A | umls:C0025202 | BeFree | An assessment of the CDKN2A variant Ala148Thr as a nevus/melanoma susceptibility allele. | 0.36 | 2002 | CDKN2A | 9 | 21970917 | C | T |
| rs3731249 | 21895773 | 1029 | CDKN2A | umls:C0151779 | BeFree | The CDKN2A p.A148T variant is associated with cutaneous melanoma in Southern Brazil. | 0.143539498 | 2011 | CDKN2A | 9 | 21970917 | C | T |
| rs3731249 | 21895773 | 1029 | CDKN2A | umls:C0025202 | BeFree | The CDKN2A p.A148T variant is associated with cutaneous melanoma in Southern Brazil. | 0.36 | 2011 | CDKN2A | 9 | 21970917 | C | T |
| rs3731249 | 17351674 | 1029 | CDKN2A | umls:C0025202 | BeFree | The CDKN2a common variants: 148 Ala/Thr and 500 C/G in 3' UTR, and their association with clinical course of melanoma. | 0.36 | 2007 | CDKN2A | 9 | 21970917 | C | T |
| rs3731249 | 18714178 | 1029 | CDKN2A | umls:C0025202 | BeFree | In the total set of 189 patients we found a novel change Pro48Arg (nt 143 c > g), a novel intronic change IVS1+36 g>c and two common variants A148T and IVS3+29 c>g. The results of this study revealed a paucity of mutations in CDKN2A/ARF suggesting that in the Polish population this gene does not contribute significantly to early-onset breast cancer, pancreatic cancer and malignant melanoma. | 0.36 | 2008 | CDKN2A | 9 | 21970917 | C | T |
| rs3752447 | 25243787 | 675 | BRCA2 | umls:C0151779 | BeFree | By performing false-positive report probability corrections and stepwise Cox proportional hazards regression analyses, we identified significant associations between CM OS and four putatively functional SNPs: BRCA2 rs10492396 (AG vs. GG: adjusted hazard ratio (adjHR)=1.85, 95% confidence interval (CI)=1.16-2.95, P=0.010), rs206118 (CC vs. TT+TC: adjHR=2.44, 95% CI=1.27-4.67, P=0.007), rs3752447 (CC vs. TT+TC: adjHR=2.10, 95% CI=1.38-3.18, P=0.0005), and FANCA rs62068372 (TT vs. CC+CT: adjHR=1.85, 95% CI=1.27-2.69, P=0.001). | 0.000814326 | 2014 | N4BP2L1 | 13 | 32407005 | C | T |
| rs3752447 | 25243787 | 2175 | FANCA | umls:C0151779 | BeFree | By performing false-positive report probability corrections and stepwise Cox proportional hazards regression analyses, we identified significant associations between CM OS and four putatively functional SNPs: BRCA2 rs10492396 (AG vs. GG: adjusted hazard ratio (adjHR)=1.85, 95% confidence interval (CI)=1.16-2.95, P=0.010), rs206118 (CC vs. TT+TC: adjHR=2.44, 95% CI=1.27-4.67, P=0.007), rs3752447 (CC vs. TT+TC: adjHR=2.10, 95% CI=1.38-3.18, P=0.0005), and FANCA rs62068372 (TT vs. CC+CT: adjHR=1.85, 95% CI=1.27-2.69, P=0.001). | 0.000271442 | 2014 | N4BP2L1 | 13 | 32407005 | C | T |
| rs3775291 | 24621100 | 64135 | IFIH1 | umls:C0025202 | BeFree | We investigated the association of polymorphisms in three pattern recognition receptor (PRR) genes-toll-like receptor 3 (TLR3) (rs3775291), retinoic acid-inducible gene I (RIG-I) (rs10813831) and melanoma differentiation-associated gene 5 (MDA5) (rs1990760)-with the severity of EV71 infection. | 0.015210676 | 2014 | TLR3 | 4 | 186082920 | C | T,G |
| rs3775291 | 24621100 | 5920 | RARRES3 | umls:C0025202 | BeFree | We investigated the association of polymorphisms in three pattern recognition receptor (PRR) genes-toll-like receptor 3 (TLR3) (rs3775291), retinoic acid-inducible gene I (RIG-I) (rs10813831) and melanoma differentiation-associated gene 5 (MDA5) (rs1990760)-with the severity of EV71 infection. | 0.009229024 | 2014 | TLR3 | 4 | 186082920 | C | T,G |
| rs3775291 | 24621100 | 8856 | NR1I2 | umls:C0025202 | BeFree | We investigated the association of polymorphisms in three pattern recognition receptor (PRR) genes-toll-like receptor 3 (TLR3) (rs3775291), retinoic acid-inducible gene I (RIG-I) (rs10813831) and melanoma differentiation-associated gene 5 (MDA5) (rs1990760)-with the severity of EV71 infection. | 0.001628651 | 2014 | TLR3 | 4 | 186082920 | C | T,G |
| rs3775292 | 23462921 | 7098 | TLR3 | umls:C0025202 | BeFree | Furthermore, in a meta-analysis, 3 additional SNPs were significantly associated with SLN metastasis (EGFR rs723526 and TLR3 rs3775292) and melanoma-specific death (TLR3 rs7668666). | 0.005981653 | 2013 | TLR3 | 4 | 186081871 | C | G |
| rs386505388 | 11179997 | 4157 | MC1R | umls:C0025202 | BeFree | MC1R gene variants have previously been associated with red hair and fair skin color, moreover skin ultraviolet sensitivity and a strong association with melanoma has been demonstrated for three variant alleles that are active in influencing pigmentation: Arg151Cys, Arg160Trp, and Asp294His. | 0.284044374 | 2001 | NA | NA | NA | NA | NA |
| rs386505388 | 22621339 | 4157 | MC1R | umls:C0025202 | BeFree | Furthermore, a non-significant tendency towards an association between melanoma risk and MC1R variants G274A and C451T and a non-significant linear tendency to the number of infrequent high-risk variants in MC1R were observed. | 0.284044374 | 2013 | NA | NA | NA | NA | NA |
| rs386505388 | 17492760 | 4157 | MC1R | umls:C0025202 | BeFree | Furthermore, we observed that a carrier of the founder CDKN2A [p.Leu113Leu;p.Pro114Ser] mutation as well as two MC1R moderate-risk variants, [p.Arg151Cys(+)p.Arg163Gln] developed 22 primary melanomas in the three years that followed initiation of levodopa therapy for Parkinson's disease. | 0.284044374 | 2007 | NA | NA | NA | NA | NA |
| rs386505388 | 24170137 | 6006 | RHCE | umls:C0025202 | BeFree | We aim to examine the influence of the MC1R variants (RHC: D84E, R151C, R160W; NRHC: V60L, R163Q and the synonymous polymorphism T314T) on the MM risk in a population from the Canary Islands. | 0.000814326 | 2013 | NA | NA | NA | NA | NA |
| rs386505388 | 19799798 | 4157 | MC1R | umls:C0025202 | BeFree | Two MC1R germline variants, Arg151Cys and Asp294His, were significantly associated with melanoma in Sardinia. | 0.284044374 | 2009 | NA | NA | NA | NA | NA |
| rs386545578 | 19320733 | 4948 | OCA2 | umls:C0025202 | BeFree | We found that the variant allele of OCA2 R419Q (rs1800407) was associated with increased risk of MM (OR 1.55, 95% CI 1.04-2.31, P = 0.03). | 0.019555084 | 2009 | NA | NA | NA | NA | NA |
| rs386545682 | 24170137 | 6006 | RHCE | umls:C0025202 | BeFree | We aim to examine the influence of the MC1R variants (RHC: D84E, R151C, R160W; NRHC: V60L, R163Q and the synonymous polymorphism T314T) on the MM risk in a population from the Canary Islands. | 0.000814326 | 2013 | NA | NA | NA | NA | NA |
| rs386545682 | 25631192 | 4157 | MC1R | umls:C0025202 | BeFree | The MC1R melanoma risk variant p.R160W is associated with Parkinson disease. | 0.284044374 | 2015 | NA | NA | NA | NA | NA |
| rs386545682 | 11179997 | 4157 | MC1R | umls:C0025202 | BeFree | MC1R gene variants have previously been associated with red hair and fair skin color, moreover skin ultraviolet sensitivity and a strong association with melanoma has been demonstrated for three variant alleles that are active in influencing pigmentation: Arg151Cys, Arg160Trp, and Asp294His. | 0.284044374 | 2001 | NA | NA | NA | NA | NA |
| rs386584847 | 21895773 | 1029 | CDKN2A | umls:C0025202 | BeFree | The CDKN2A p.A148T variant is associated with cutaneous melanoma in Southern Brazil. | 0.36 | 2011 | NA | NA | NA | NA | NA |
| rs386584847 | 18714178 | 1029 | CDKN2A | umls:C0025202 | BeFree | In the total set of 189 patients we found a novel change Pro48Arg (nt 143 c > g), a novel intronic change IVS1+36 g>c and two common variants A148T and IVS3+29 c>g. The results of this study revealed a paucity of mutations in CDKN2A/ARF suggesting that in the Polish population this gene does not contribute significantly to early-onset breast cancer, pancreatic cancer and malignant melanoma. | 0.36 | 2008 | NA | NA | NA | NA | NA |
| rs386584847 | 12406345 | 1029 | CDKN2A | umls:C0025202 | BeFree | An assessment of the CDKN2A variant Ala148Thr as a nevus/melanoma susceptibility allele. | 0.36 | 2002 | NA | NA | NA | NA | NA |
| rs386584847 | 17351674 | 1029 | CDKN2A | umls:C0025202 | BeFree | The CDKN2a common variants: 148 Ala/Thr and 500 C/G in 3' UTR, and their association with clinical course of melanoma. | 0.36 | 2007 | NA | NA | NA | NA | NA |
| rs386584847 | 21895773 | 1029 | CDKN2A | umls:C0151779 | BeFree | The CDKN2A p.A148T variant is associated with cutaneous melanoma in Southern Brazil. | 0.143539498 | 2011 | NA | NA | NA | NA | NA |
| rs386598428 | 21507037 | 1019 | CDK4 | umls:C0025202 | BeFree | To verify the S305N association with melanoma risk in an independent larger French population (378 patients, 389 controls); to investigate the role of EDNRB variants in melanoma risk in an Italian population (133 patients, 118 controls); and to explore the association of CDKN2A or CDK4 mutations with the S305N EDNRB variant in a subgroup of patients (59 French, 12 Italian) with a suspected hereditary predisposition to melanoma (familial melanoma, sporadic multiple primary melanoma or melanoma associated with pancreatic cancer). | 0.061416722 | 2011 | NA | NA | NA | NA | NA |
| rs386598428 | 21507037 | 1029 | CDKN2A | umls:C0025202 | BeFree | To verify the S305N association with melanoma risk in an independent larger French population (378 patients, 389 controls); to investigate the role of EDNRB variants in melanoma risk in an Italian population (133 patients, 118 controls); and to explore the association of CDKN2A or CDK4 mutations with the S305N EDNRB variant in a subgroup of patients (59 French, 12 Italian) with a suspected hereditary predisposition to melanoma (familial melanoma, sporadic multiple primary melanoma or melanoma associated with pancreatic cancer). | 0.36 | 2011 | NA | NA | NA | NA | NA |
| rs386626619 | 23382536 | 3717 | JAK2 | umls:C0025202 | BeFree | At clinically informative sites, we identified seven low-frequency point mutations (0.2%-4.7%), including BRAF p.V600E (melanoma, 0.2% alternate allele frequency), KRAS p.G12V (lung, 0.6%), JAK2 p.V617F (melanoma, colon, two lung, 0.3%-1.4%), and NRAS p.Q61R (colon, 4.7%). | 0.003810118 | 2013 | NA | NA | NA | NA | NA |
| rs386626619 | 23382536 | 673 | BRAF | umls:C0025202 | BeFree | At clinically informative sites, we identified seven low-frequency point mutations (0.2%-4.7%), including BRAF p.V600E (melanoma, 0.2% alternate allele frequency), KRAS p.G12V (lung, 0.6%), JAK2 p.V617F (melanoma, colon, two lung, 0.3%-1.4%), and NRAS p.Q61R (colon, 4.7%). | 0.430771416 | 2013 | NA | NA | NA | NA | NA |
| rs387906410 | 17492760 | 4157 | MC1R | umls:C0025202 | BeFree | Furthermore, we observed that a carrier of the founder CDKN2A [p.Leu113Leu;p.Pro114Ser] mutation as well as two MC1R moderate-risk variants, [p.Arg151Cys(+)p.Arg163Gln] developed 22 primary melanomas in the three years that followed initiation of levodopa therapy for Parkinson's disease. | 0.284044374 | 2007 | NA | NA | NA | NA | NA |
| rs397507444 | 16950800 | 1045 | CDX2 | umls:C0025202 | BeFree | We evaluated genetic polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene (C677T and A1298C) and the vitamin D receptor (VDR) gene (Fok1, Bsm1 and Cdx2) with skin cancer risk in a nested case-control study within the Nurses' Health Study [219 melanoma, 286 squamous cell carcinoma (SCC), 300 basal cell carcinoma (BCC) and 873 controls]. | 0.000542884 | 2007 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 16950800 | 7421 | VDR | umls:C0025202 | BeFree | We evaluated genetic polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene (C677T and A1298C) and the vitamin D receptor (VDR) gene (Fok1, Bsm1 and Cdx2) with skin cancer risk in a nested case-control study within the Nurses' Health Study [219 melanoma, 286 squamous cell carcinoma (SCC), 300 basal cell carcinoma (BCC) and 873 controls]. | 0.037110387 | 2007 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 16950800 | 4524 | MTHFR | umls:C0025202 | BeFree | We evaluated genetic polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene (C677T and A1298C) and the vitamin D receptor (VDR) gene (Fok1, Bsm1 and Cdx2) with skin cancer risk in a nested case-control study within the Nurses' Health Study [219 melanoma, 286 squamous cell carcinoma (SCC), 300 basal cell carcinoma (BCC) and 873 controls]. | 0.000271442 | 2007 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 16950800 | 1594 | CYP27B1 | umls:C0025202 | BeFree | We evaluated genetic polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene (C677T and A1298C) and the vitamin D receptor (VDR) gene (Fok1, Bsm1 and Cdx2) with skin cancer risk in a nested case-control study within the Nurses' Health Study [219 melanoma, 286 squamous cell carcinoma (SCC), 300 basal cell carcinoma (BCC) and 873 controls]. | 0.003800186 | 2007 | MTHFR | 1 | 11794407 | T | G |
| rs397516792 | 19915144 | 5604 | MAP2K1 | umls:C0025202 | BeFree | One such mutation, MEK1(P124L), was identified in a resistant metastatic focus that emerged in a melanoma patient treated with AZD6244. | 0.130877538 | 2009 | MAP2K1 | 15 | 66436825 | C | T |
| rs401681 | 19578363 | 81037 | CLPTM1L | umls:C0025202 | BeFree | Finally, we report conclusive evidence that rs401681[C] in the TERT-CLPTM1L locus confers susceptibility to BCC but protects against melanoma. | 0.12554839 | 2009 | CLPTM1L | 5 | 1321972 | C | T |
| rs401681 | 21116649 | 81037 | CLPTM1L | umls:C0025202 | BeFree | Also, the SNP rs401681 in the TERT-CLPTM1L locus was replicated for the association with melanoma risk. | 0.12554839 | 2011 | CLPTM1L | 5 | 1321972 | C | T |
| rs401681 | 19578363 | 7015 | TERT | umls:C0025202 | BeFree | Finally, we report conclusive evidence that rs401681[C] in the TERT-CLPTM1L locus confers susceptibility to BCC but protects against melanoma. | 0.131596056 | 2009 | CLPTM1L | 5 | 1321972 | C | T |
| rs401681 | 21116649 | 25913 | POT1 | umls:C0025202 | BeFree | We evaluated the associations between 39 SNPs, including 38 tag-SNPs in telomere-related genes (TERT, TRF1, TRF2, TNKS2, and POT1) and one SNP (rs401681) in the TERT-CLPTM1L locus which has been identified as a susceptibility locus to skin cancer in the previous GWAS, and the risk of skin cancer in a case-control study of Caucasians nested within the Nurses' Health Study (NHS) among 218 melanoma cases, 285 squamous cell carcinoma (SCC) cases, 300 basal cell carcinoma (BCC) cases, and 870 controls. | 0.121085767 | 2011 | CLPTM1L | 5 | 1321972 | C | T |
| rs401681 | 25457634 | 81037 | CLPTM1L | umls:C0025202 | BeFree | We also obtained significant results when we tested the association between rs401681 variant (TERT-CLPTM1L locus) with melanoma risk (Odds ratio, OR; 95% confidence interval, CI=1.24 (1.08-1.43); p-value, 3×10(-3)). | 0.12554839 | 2014 | CLPTM1L | 5 | 1321972 | C | T |
| rs401681 | 21983787 | 81037 | CLPTM1L | umls:C0025202 | GAD | [Genome-wide association study identifies three new melanoma susceptibility loci.] | 0.12554839 | 2011 | CLPTM1L | 5 | 1321972 | C | T |
| rs401681 | 21983787 | 81037 | CLPTM1L | umls:C0025202 | GWASCAT | Genome-wide association study identifies three new melanoma susceptibility loci. | 0.12554839 | 2011 | CLPTM1L | 5 | 1321972 | C | T |
| rs45430 | 21983787 | 4600 | MX2 | umls:C0025202 | GWASCAT | Genome-wide association study identifies three new melanoma susceptibility loci. | 0.242367032 | 2011 | MX2 | 21 | 41374154 | C | T |
| rs45430 | 21983787 | 4600 | MX2 | umls:C0025202 | GAD | [Genome-wide association study identifies three new melanoma susceptibility loci.] | 0.242367032 | 2011 | MX2 | 21 | 41374154 | C | T |
| rs4608623 | 23291271 | 23764 | MAFF | umls:C0025202 | BeFree | The risk associations with 16 SNPs around DUSP14 (rs1051849) and a previous reported melanoma locus MAFF/PLA2G6 (proxy SNP rs4608623) were replicated in the GenoMEL dataset (P < 0.01) but failed in the Australian dataset. | 0.000271442 | 2013 | MAFF | 22 | 38201371 | G | T |
| rs4646536 | 22576141 | 1594 | CYP27B1 | umls:C0025202 | BeFree | In our hospital-based case-control study including 305 melanoma patients and 370 healthy controls single nucleotide polymorphisms in the genes CYP27B1 (rs4646536), CYP24A1 (rs927650), VDBP (rs1155563, rs7041), and VDR (rs757343, rs731236, rs2107301, rs7975232) were analyzed for their association with melanoma risk and prognosis. | 0.003800186 | 2012 | CYP27B1 | 12 | 57764205 | A | G |
| rs4646536 | 22576141 | 1591 | CYP24A1 | umls:C0025202 | BeFree | In our hospital-based case-control study including 305 melanoma patients and 370 healthy controls single nucleotide polymorphisms in the genes CYP27B1 (rs4646536), CYP24A1 (rs927650), VDBP (rs1155563, rs7041), and VDR (rs757343, rs731236, rs2107301, rs7975232) were analyzed for their association with melanoma risk and prognosis. | 0.001357209 | 2012 | CYP27B1 | 12 | 57764205 | A | G |
| rs4646536 | 22576141 | 2638 | GC | umls:C0025202 | BeFree | In our hospital-based case-control study including 305 melanoma patients and 370 healthy controls single nucleotide polymorphisms in the genes CYP27B1 (rs4646536), CYP24A1 (rs927650), VDBP (rs1155563, rs7041), and VDR (rs757343, rs731236, rs2107301, rs7975232) were analyzed for their association with melanoma risk and prognosis. | 0.000814326 | 2012 | CYP27B1 | 12 | 57764205 | A | G |
| rs4698934 | 24980573 | 54790 | TET2 | umls:C0025202 | GWASCAT | Identification of a melanoma susceptibility locus and somatic mutation in TET2. | 0.121085767 | 2014 | TET2;TET2-AS1 | 4 | 105218230 | T | C |
| rs4785763 | 19578364 | 172 | AFG3L1P | umls:C0025202 | GWASCAT | Genome-wide association study identifies three loci associated with melanoma risk. | 0.12 | 2009 | AFG3L1P | 16 | 90000528 | A | C |
| rs4911414 | 19384953 | 56288 | PARD3 | umls:C0025202 | BeFree | The haplotype near ASIP (rs4911414[T] and rs1015362[G]) was significantly associated with fair skin color (OR, 2.28; 95% CI, 1.46-3.57) as well as the risks of melanoma (OR, 1.68; 95% CI, 1.18-2.39) and SCC (OR, 1.54; 95% CI, 1.08-2.19). | 0.001628651 | 2009 | NA | 20 | 34141638 | T | G |
| rs4911414 | 19384953 | 434 | ASIP | umls:C0025202 | BeFree | The haplotype near ASIP (rs4911414[T] and rs1015362[G]) was significantly associated with fair skin color (OR, 2.28; 95% CI, 1.46-3.57) as well as the risks of melanoma (OR, 1.68; 95% CI, 1.18-2.39) and SCC (OR, 1.54; 95% CI, 1.08-2.19). | 0.141193667 | 2009 | NA | 20 | 34141638 | T | G |
| rs6001027 | 21983787 | 8398 | PLA2G6 | umls:C0025202 | GAD | [Genome-wide association study identifies three new melanoma susceptibility loci.] | 0.130825337 | 2011 | PLA2G6 | 22 | 38149612 | A | G |
| rs62068372 | 25243787 | 675 | BRCA2 | umls:C0151779 | BeFree | By performing false-positive report probability corrections and stepwise Cox proportional hazards regression analyses, we identified significant associations between CM OS and four putatively functional SNPs: BRCA2 rs10492396 (AG vs. GG: adjusted hazard ratio (adjHR)=1.85, 95% confidence interval (CI)=1.16-2.95, P=0.010), rs206118 (CC vs. TT+TC: adjHR=2.44, 95% CI=1.27-4.67, P=0.007), rs3752447 (CC vs. TT+TC: adjHR=2.10, 95% CI=1.38-3.18, P=0.0005), and FANCA rs62068372 (TT vs. CC+CT: adjHR=1.85, 95% CI=1.27-2.69, P=0.001). | 0.000814326 | 2014 | VPS9D1;ZNF276 | 16 | 89718699 | T | C |
| rs62068372 | 25243787 | 2175 | FANCA | umls:C0151779 | BeFree | By performing false-positive report probability corrections and stepwise Cox proportional hazards regression analyses, we identified significant associations between CM OS and four putatively functional SNPs: BRCA2 rs10492396 (AG vs. GG: adjusted hazard ratio (adjHR)=1.85, 95% confidence interval (CI)=1.16-2.95, P=0.010), rs206118 (CC vs. TT+TC: adjHR=2.44, 95% CI=1.27-4.67, P=0.007), rs3752447 (CC vs. TT+TC: adjHR=2.10, 95% CI=1.38-3.18, P=0.0005), and FANCA rs62068372 (TT vs. CC+CT: adjHR=1.85, 95% CI=1.27-2.69, P=0.001). | 0.000271442 | 2014 | VPS9D1;ZNF276 | 16 | 89718699 | T | C |
| rs6676671 | 19458621 | 3586 | IL10 | umls:C0151779 | BeFree | We investigated the role of a haplotype from distal as well as proximal polymorphic sites [-7400InDel, -6752AT (rs6676671), -3538AT (rs1800890), -1087AG (rs1800896), -597AC (rs1800872)] of the IL-10 5'-flanking region in a hospital-based case-control study of 165 Caucasian patients with cutaneous melanoma from Germany in comparison with 162 healthy cancer-free Caucasian control participants from the same area matched by age. | 0.001085767 | 2009 | NA | 1 | 206779403 | T | A |
| rs7023329 | 19578364 | 4507 | MTAP | umls:C0025202 | GAD | [Genome-wide association study identifies three loci associated with melanoma risk.] | 0.257273929 | 2009 | MTAP | 9 | 21816529 | A | G |
| rs7023329 | 21983787 | 4507 | MTAP | umls:C0025202 | GWASCAT | Genome-wide association study identifies three new melanoma susceptibility loci. | 0.257273929 | 2011 | MTAP | 9 | 21816529 | A | G |
| rs7023329 | 21983787 | 4507 | MTAP | umls:C0025202 | GAD | [Genome-wide association study identifies three new melanoma susceptibility loci.] | 0.257273929 | 2011 | MTAP | 9 | 21816529 | A | G |
| rs7023329 | 23361049 | 4507 | MTAP | umls:C0025202 | BeFree | One SNP in MTAP (methylthioadenosine phosphorylase) (rs7023329) that was previously associated with melanoma and nevi in multiple genome-wide association studies was associated with CRC, CA and OS by ASSET (P=0.007). | 0.257273929 | 2013 | MTAP | 9 | 21816529 | A | G |
| rs7023329 | 19578364 | 4507 | MTAP | umls:C0025202 | GWASCAT | Genome-wide association study identifies three loci associated with melanoma risk. | 0.257273929 | 2009 | MTAP | 9 | 21816529 | A | G |
| rs7023329 | 20647408 | 4507 | MTAP | umls:C0025202 | GAD | [SNPs on chromosome 6, 9 and 22 were shown to be associated with nevi, but explain only a small proportion of melanoma risk and nevus phenotype suggesting other nevus genes remain to be identified.] | 0.257273929 | 2010 | MTAP | 9 | 21816529 | A | G |
| rs7041 | 22576141 | 1594 | CYP27B1 | umls:C0025202 | BeFree | In our hospital-based case-control study including 305 melanoma patients and 370 healthy controls single nucleotide polymorphisms in the genes CYP27B1 (rs4646536), CYP24A1 (rs927650), VDBP (rs1155563, rs7041), and VDR (rs757343, rs731236, rs2107301, rs7975232) were analyzed for their association with melanoma risk and prognosis. | 0.003800186 | 2012 | GC | 4 | 71752617 | A | C |
| rs7041 | 22576141 | 1591 | CYP24A1 | umls:C0025202 | BeFree | In our hospital-based case-control study including 305 melanoma patients and 370 healthy controls single nucleotide polymorphisms in the genes CYP27B1 (rs4646536), CYP24A1 (rs927650), VDBP (rs1155563, rs7041), and VDR (rs757343, rs731236, rs2107301, rs7975232) were analyzed for their association with melanoma risk and prognosis. | 0.001357209 | 2012 | GC | 4 | 71752617 | A | C |
| rs7041 | 22576141 | 2638 | GC | umls:C0025202 | BeFree | In our hospital-based case-control study including 305 melanoma patients and 370 healthy controls single nucleotide polymorphisms in the genes CYP27B1 (rs4646536), CYP24A1 (rs927650), VDBP (rs1155563, rs7041), and VDR (rs757343, rs731236, rs2107301, rs7975232) were analyzed for their association with melanoma risk and prognosis. | 0.000814326 | 2012 | GC | 4 | 71752617 | A | C |
| rs7121 | 21156401 | 2778 | GNAS | umls:C0025202 | BeFree | GNAS1 T393C polymorphism and disease progression in patients with malignant melanoma. | 0.003181358 | 2010 | GNAS | 20 | 58903752 | C | T |
| rs723526 | 23462921 | 7098 | TLR3 | umls:C0025202 | BeFree | Furthermore, in a meta-analysis, 3 additional SNPs were significantly associated with SLN metastasis (EGFR rs723526 and TLR3 rs3775292) and melanoma-specific death (TLR3 rs7668666). | 0.005981653 | 2013 | EGFR | 7 | 55067126 | A | G |
| rs731236 | 22576141 | 2638 | GC | umls:C0025202 | BeFree | In our hospital-based case-control study including 305 melanoma patients and 370 healthy controls single nucleotide polymorphisms in the genes CYP27B1 (rs4646536), CYP24A1 (rs927650), VDBP (rs1155563, rs7041), and VDR (rs757343, rs731236, rs2107301, rs7975232) were analyzed for their association with melanoma risk and prognosis. | 0.000814326 | 2012 | VDR;LOC105369749 | 12 | 47844974 | A | G |
| rs731236 | 22576141 | 1591 | CYP24A1 | umls:C0025202 | BeFree | In our hospital-based case-control study including 305 melanoma patients and 370 healthy controls single nucleotide polymorphisms in the genes CYP27B1 (rs4646536), CYP24A1 (rs927650), VDBP (rs1155563, rs7041), and VDR (rs757343, rs731236, rs2107301, rs7975232) were analyzed for their association with melanoma risk and prognosis. | 0.001357209 | 2012 | VDR;LOC105369749 | 12 | 47844974 | A | G |
| rs731236 | 22576141 | 1594 | CYP27B1 | umls:C0025202 | BeFree | In our hospital-based case-control study including 305 melanoma patients and 370 healthy controls single nucleotide polymorphisms in the genes CYP27B1 (rs4646536), CYP24A1 (rs927650), VDBP (rs1155563, rs7041), and VDR (rs757343, rs731236, rs2107301, rs7975232) were analyzed for their association with melanoma risk and prognosis. | 0.003800186 | 2012 | VDR;LOC105369749 | 12 | 47844974 | A | G |
| rs7412746 | 21983785 | 100996521 | LOC100996521 | umls:C0025202 | GWASCAT | Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3. | 0.12 | 2011 | LOC100996521 | 1 | 150887995 | C | T |
| rs757343 | 22576141 | 1594 | CYP27B1 | umls:C0025202 | BeFree | In our hospital-based case-control study including 305 melanoma patients and 370 healthy controls single nucleotide polymorphisms in the genes CYP27B1 (rs4646536), CYP24A1 (rs927650), VDBP (rs1155563, rs7041), and VDR (rs757343, rs731236, rs2107301, rs7975232) were analyzed for their association with melanoma risk and prognosis. | 0.003800186 | 2012 | VDR;LOC105369749 | 12 | 47845892 | C | T |
| rs757343 | 22576141 | 2638 | GC | umls:C0025202 | BeFree | In our hospital-based case-control study including 305 melanoma patients and 370 healthy controls single nucleotide polymorphisms in the genes CYP27B1 (rs4646536), CYP24A1 (rs927650), VDBP (rs1155563, rs7041), and VDR (rs757343, rs731236, rs2107301, rs7975232) were analyzed for their association with melanoma risk and prognosis. | 0.000814326 | 2012 | VDR;LOC105369749 | 12 | 47845892 | C | T |
| rs757343 | 22576141 | 1591 | CYP24A1 | umls:C0025202 | BeFree | In our hospital-based case-control study including 305 melanoma patients and 370 healthy controls single nucleotide polymorphisms in the genes CYP27B1 (rs4646536), CYP24A1 (rs927650), VDBP (rs1155563, rs7041), and VDR (rs757343, rs731236, rs2107301, rs7975232) were analyzed for their association with melanoma risk and prognosis. | 0.001357209 | 2012 | VDR;LOC105369749 | 12 | 47845892 | C | T |
| rs7668666 | 23462921 | 7098 | TLR3 | umls:C0025202 | BeFree | Furthermore, in a meta-analysis, 3 additional SNPs were significantly associated with SLN metastasis (EGFR rs723526 and TLR3 rs3775292) and melanoma-specific death (TLR3 rs7668666). | 0.005981653 | 2013 | TLR3 | 4 | 186080138 | C | A |
| rs77375493 | 23382536 | 3717 | JAK2 | umls:C0025202 | BeFree | At clinically informative sites, we identified seven low-frequency point mutations (0.2%-4.7%), including BRAF p.V600E (melanoma, 0.2% alternate allele frequency), KRAS p.G12V (lung, 0.6%), JAK2 p.V617F (melanoma, colon, two lung, 0.3%-1.4%), and NRAS p.Q61R (colon, 4.7%). | 0.003810118 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 23382536 | 673 | BRAF | umls:C0025202 | BeFree | At clinically informative sites, we identified seven low-frequency point mutations (0.2%-4.7%), including BRAF p.V600E (melanoma, 0.2% alternate allele frequency), KRAS p.G12V (lung, 0.6%), JAK2 p.V617F (melanoma, colon, two lung, 0.3%-1.4%), and NRAS p.Q61R (colon, 4.7%). | 0.430771416 | 2013 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs78378222 | 23742673 | 7157 | TP53 | umls:C0025202 | BeFree | Association between a rare novel TP53 variant (rs78378222) and melanoma, squamous cell carcinoma of head and neck and lung cancer susceptibility in non-Hispanic Whites. | 0.226174462 | 2013 | TP53 | 17 | 7668434 | T | G |
| rs7944031 | 25628125 | 10413 | YAP1 | umls:C0151779 | BeFree | We found a predictive role of YAP1 rs11225163 CC, TEAD1 rs7944031 AG+GG and TEAD4 rs1990330 CA+AA in the prognosis of CM. | 0.000542884 | 2014 | TEAD1 | 11 | 12907573 | A | G |
| rs7944031 | 25628125 | 7004 | TEAD4 | umls:C0151779 | BeFree | We found a predictive role of YAP1 rs11225163 CC, TEAD1 rs7944031 AG+GG and TEAD4 rs1990330 CA+AA in the prognosis of CM. | 0.000271442 | 2014 | TEAD1 | 11 | 12907573 | A | G |
| rs7944031 | 25628125 | 7003 | TEAD1 | umls:C0151779 | BeFree | We found a predictive role of YAP1 rs11225163 CC, TEAD1 rs7944031 AG+GG and TEAD4 rs1990330 CA+AA in the prognosis of CM. | 0.000271442 | 2014 | TEAD1 | 11 | 12907573 | A | G |
| rs7975232 | 22576141 | 1591 | CYP24A1 | umls:C0025202 | BeFree | In our hospital-based case-control study including 305 melanoma patients and 370 healthy controls single nucleotide polymorphisms in the genes CYP27B1 (rs4646536), CYP24A1 (rs927650), VDBP (rs1155563, rs7041), and VDR (rs757343, rs731236, rs2107301, rs7975232) were analyzed for their association with melanoma risk and prognosis. | 0.001357209 | 2012 | VDR;LOC105369749 | 12 | 47845054 | C | A |
| rs7975232 | 22576141 | 2638 | GC | umls:C0025202 | BeFree | In our hospital-based case-control study including 305 melanoma patients and 370 healthy controls single nucleotide polymorphisms in the genes CYP27B1 (rs4646536), CYP24A1 (rs927650), VDBP (rs1155563, rs7041), and VDR (rs757343, rs731236, rs2107301, rs7975232) were analyzed for their association with melanoma risk and prognosis. | 0.000814326 | 2012 | VDR;LOC105369749 | 12 | 47845054 | C | A |
| rs7975232 | 22576141 | 1594 | CYP27B1 | umls:C0025202 | BeFree | In our hospital-based case-control study including 305 melanoma patients and 370 healthy controls single nucleotide polymorphisms in the genes CYP27B1 (rs4646536), CYP24A1 (rs927650), VDBP (rs1155563, rs7041), and VDR (rs757343, rs731236, rs2107301, rs7975232) were analyzed for their association with melanoma risk and prognosis. | 0.003800186 | 2012 | VDR;LOC105369749 | 12 | 47845054 | C | A |
| rs861539 | 23562721 | 7517 | XRCC3 | umls:C0151779 | BeFree | Moreover, our work also points out the importance of new studies for T241M association in some cancer types, such as gastric cancer, colorectal cancer, and melanoma skin cancer, where at least some of the covariates responsible for heterogeneity could be controlled, to obtain a more conclusive understanding about the function of the XRCC3 polymorphism in cancer development. | 0.003181358 | 2013 | KLC1;XRCC3 | 14 | 103699416 | G | A |
| rs861539 | 20601096 | 7517 | XRCC3 | umls:C0025202 | BeFree | Data analyses showed that none of the polymorphisms except T241M XRCC3 was associated with an increased risk for cutaneous melanoma. | 0.133006804 | 2010 | KLC1;XRCC3 | 14 | 103699416 | G | A |
| rs861539 | 20601096 | 7517 | XRCC3 | umls:C0151779 | BeFree | Data analyses showed that none of the polymorphisms except T241M XRCC3 was associated with an increased risk for cutaneous melanoma. | 0.003181358 | 2010 | KLC1;XRCC3 | 14 | 103699416 | G | A |
| rs885479 | 23647022 | 4157 | MC1R | umls:C0025202 | BeFree | Distribution of MC1R variants among melanoma subtypes: p.R163Q is associated with lentigo maligna melanoma in a Mediterranean population. | 0.284044374 | 2013 | MC1R | 16 | 89919746 | G | A |
| rs885479 | 17492760 | 4157 | MC1R | umls:C0025202 | BeFree | Furthermore, we observed that a carrier of the founder CDKN2A [p.Leu113Leu;p.Pro114Ser] mutation as well as two MC1R moderate-risk variants, [p.Arg151Cys(+)p.Arg163Gln] developed 22 primary melanomas in the three years that followed initiation of levodopa therapy for Parkinson's disease. | 0.284044374 | 2007 | MC1R | 16 | 89919746 | G | A |
| rs885479 | 24170137 | 6006 | RHCE | umls:C0025202 | BeFree | We aim to examine the influence of the MC1R variants (RHC: D84E, R151C, R160W; NRHC: V60L, R163Q and the synonymous polymorphism T314T) on the MM risk in a population from the Canary Islands. | 0.000814326 | 2013 | MC1R | 16 | 89919746 | G | A |
| rs910873 | 18488026 | 128869 | PIGU | umls:C0025202 | GAD | [Common sequence variants on 20q11.22 confer melanoma susceptibility.] | 0.125005506 | 2008 | PIGU | 20 | 34583968 | G | A |
| rs910873 | 18488026 | 128869 | PIGU | umls:C0025202 | GWASCAT | Common sequence variants on 20q11.22 confer melanoma susceptibility. | 0.125005506 | 2008 | PIGU | 20 | 34583968 | G | A |
| rs927650 | 22576141 | 2638 | GC | umls:C0025202 | BeFree | In our hospital-based case-control study including 305 melanoma patients and 370 healthy controls single nucleotide polymorphisms in the genes CYP27B1 (rs4646536), CYP24A1 (rs927650), VDBP (rs1155563, rs7041), and VDR (rs757343, rs731236, rs2107301, rs7975232) were analyzed for their association with melanoma risk and prognosis. | 0.000814326 | 2012 | CYP24A1 | 20 | 54156202 | T | C |
| rs927650 | 22576141 | 1594 | CYP27B1 | umls:C0025202 | BeFree | In our hospital-based case-control study including 305 melanoma patients and 370 healthy controls single nucleotide polymorphisms in the genes CYP27B1 (rs4646536), CYP24A1 (rs927650), VDBP (rs1155563, rs7041), and VDR (rs757343, rs731236, rs2107301, rs7975232) were analyzed for their association with melanoma risk and prognosis. | 0.003800186 | 2012 | CYP24A1 | 20 | 54156202 | T | C |
| rs927650 | 22576141 | 1591 | CYP24A1 | umls:C0025202 | BeFree | In our hospital-based case-control study including 305 melanoma patients and 370 healthy controls single nucleotide polymorphisms in the genes CYP27B1 (rs4646536), CYP24A1 (rs927650), VDBP (rs1155563, rs7041), and VDR (rs757343, rs731236, rs2107301, rs7975232) were analyzed for their association with melanoma risk and prognosis. | 0.001357209 | 2012 | CYP24A1 | 20 | 54156202 | T | C |
