All Snps(Total Genotypes:91) |
|---|
| snpId |
pubmedId |
geneId |
geneSymbol |
diseaseId |
sourceId |
sentence |
score |
Year |
geneSymbol_dbSNP |
CHROMOSOME |
POS |
REF |
ALT |
| rs1042522 | 24175836 | 4193 | MDM2 | umls:C0001418 | BeFree | We investigated the distribution of the p53 Arg72Pro (rs1042522) and MDM2 SNP309 (rs2279744) genotypes in patients and healthy control subjects to assess whether these single nucleotide polymorphisms (SNPs) are associated with an increased risk of lung adenocarcinomas in Chinese female non- smokers. | 0.009901391 | 2014 | TP53 | 17 | 7676154 | G | T,C |
| rs1048943 | 16195240 | 1543 | CYP1A1 | umls:C0001418 | BeFree | CYP1A1 Ile462Val and MPO G-463A interact to increase risk of adenocarcinoma but not squamous cell carcinoma of the lung. | 0.014278137 | 2006 | CYP1A1 | 15 | 74720644 | T | G,C,A |
| rs1048943 | 16195240 | 4353 | MPO | umls:C0001418 | BeFree | CYP1A1 Ile462Val and MPO G-463A interact to increase risk of adenocarcinoma but not squamous cell carcinoma of the lung. | 0.002638474 | 2006 | CYP1A1 | 15 | 74720644 | T | G,C,A |
| rs1130409 | 21198260 | 328 | APEX1 | umls:C0001418 | BeFree | We found a statistically significant interaction between APEX1 Asp148Glu and the risk for lung cancer (adjusted OR 2.78, 95% CI 1.58-4.90, p=0.0004), of both adenocarcinoma (adjusted OR 2.24, 95%CI 1.18-4.25, p=0.014) and squamous cell carcinoma (adjusted OR 4.75, 95%CI 1.79-12.6, p=0.002) types. | 0.008001298 | 2010 | APEX1;OSGEP | 14 | 20456995 | T | A,G |
| rs113488022 | 25273224 | 673 | BRAF | umls:C0001418 | BeFree | Twenty-one BRAF mutations were identified in 951 patients with adenocarcinomas (2.2%; 95% confidence interval [CI], 1.4%-3.4%): 17 (81%; 95% CI, 60%-92%) were BRAF(V600E) mutations, and 4 were non-BRAF(V600E) mutations. | 0.054760159 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 18636014 | 1956 | EGFR | umls:C0001418 | BeFree | We analyzed 222 adenocarcinomas of lung lacking KRAS and EGFR mutations and identified 10 adenocarcinomas with BRAF-V600E mutation. | 0.36 | 2008 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 18636014 | 673 | BRAF | umls:C0001418 | BeFree | Adenocarcinomas with this clinicopathologic phenotype may be worthwhile investigating for BRAF-V600E mutation as more genetically oriented drug therapies emerge. | 0.054760159 | 2008 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23927882 | 673 | BRAF | umls:C0001418 | BeFree | IHC using the VE1 clone and FLEX linker is a specific method for the detection BRAF V600E and may be an alternative to molecular biology for the detection of mutations in lung adenocarcinomas. | 0.054760159 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24888229 | 673 | BRAF | umls:C0001418 | BeFree | Somatic BRAF mutations have been reported in 1-4% of non-small cell lung cancer (NSCLC), primarily in adenocarcinomas with the BRAF (V600E) mutation in about 50% of the cases. | 0.054760159 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 16376942 | 673 | BRAF | umls:C0001418 | BeFree | In exon 15, one BRAF mutation (1796 thymine to adenine; V599E) was found in nonsmoking woman with well-differentiated adenocarcinoma. | 0.054760159 | 2006 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 21457162 | 4292 | MLH1 | umls:C0001418 | BeFree | KRAS codon 12/13 and 59/61 and BRAF V600E mutations, MSI, and MGMT and hMLH1 methylation and expression in 42 serrated adenocarcinomas and 17 serrated adenomas were compared with those in 59 non-serrated colorectal carcinomas (CRCs) and nine adenomas. | 0.037496161 | 2011 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 21307665 | 673 | BRAF | umls:C0001418 | BeFree | We analyzed 29 gallbladder carcinomas (9 papillary and 20 nonpapillary adenocarcinomas), 16 adenomas (6 pyloric, 3 intestinal, 3 biliary, 3 mixed pyloric-biliary, and 1 mixed pyloric-intestinal), and 5 cases of high-grade dysplasia for activating missense mutations in KRAS codons 12 and 13 and BRAF V600E mutations. | 0.054760159 | 2011 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 21457162 | 4255 | MGMT | umls:C0001418 | BeFree | KRAS codon 12/13 and 59/61 and BRAF V600E mutations, MSI, and MGMT and hMLH1 methylation and expression in 42 serrated adenocarcinomas and 17 serrated adenomas were compared with those in 59 non-serrated colorectal carcinomas (CRCs) and nine adenomas. | 0.014797276 | 2011 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22522845 | 673 | BRAF | umls:C0001418 | BeFree | BRAF V600E mutation and CpG island methylation phenotype-positive status are similar in signet ring cell carcinoma and mucinous adenocarcinoma but more frequent when compared with conventional adenocarcinoma. | 0.054760159 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 26066373 | 673 | BRAF | umls:C0001418 | BeFree | From our patients and literature search, we found that BRAF-V600E mutations occur predominantly in female smokers with adenocarcinomas. | 0.054760159 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs1136410 | 25179837 | 142 | PARP1 | umls:C0001418 | BeFree | Our findings support the view that PARP-1 Val762Ala polymorphism may contribute to an increased risk of lung cancer in the Chinese population, especially for adenocarcinoma. | 0.000542884 | 2014 | PARP1 | 1 | 226367601 | A | G |
| rs11540654 | 24175836 | 4193 | MDM2 | umls:C0001418 | BeFree | We investigated the distribution of the p53 Arg72Pro (rs1042522) and MDM2 SNP309 (rs2279744) genotypes in patients and healthy control subjects to assess whether these single nucleotide polymorphisms (SNPs) are associated with an increased risk of lung adenocarcinomas in Chinese female non- smokers. | 0.009901391 | 2014 | TP53 | 17 | 7676040 | C | T,G,A |
| rs121434568 | 22594511 | 1956 | EGFR | umls:C0001418 | BeFree | Driver mutations in the EGFR tyrosine kinase domain (mainly deletions in exon 19 and L858R mutation in exon 21) have been identified in lung adenocarcinomas, mostly in never smokers, at frequencies of 20-60%. | 0.36 | 2012 | EGFR | 7 | 55191822 | T | G |
| rs121434568 | 23357969 | 1956 | EGFR | umls:C0001418 | BeFree | In the ADC/BAC group, KRAS mutations were more frequent in man (P<0.02) and EGFR mutations (exon 19 deletion and L858R) demonstrated a tendency towards worse disease-free survival (P=0.056). | 0.36 | 2014 | EGFR | 7 | 55191822 | T | G |
| rs121434568 | 24852875 | 1956 | EGFR | umls:C0001418 | BeFree | Pretreatment evaluation of EGFR mutations in the resected primary adenocarcinoma specimen showed an L858R mutation in exon 21. | 0.36 | 2014 | EGFR | 7 | 55191822 | T | G |
| rs121434568 | 25312989 | 1956 | EGFR | umls:C0001418 | BeFree | We report here a case of pulmonary adenocarcinoma with concomitant EGFR mutation in exon 21 (L858R) and ALK rearrangement in naive and relapsed tumors. | 0.36 | 2014 | EGFR | 7 | 55191822 | T | G |
| rs121434568 | 23014527 | 1956 | EGFR | umls:C0001418 | BeFree | We genotyped 3,026 lung adenocarcinomas for the major EGFR (exon 19 deletions and L858R) and KRAS (G12, G13) mutations and examined correlations with demographic, clinical, and smoking history data. | 0.36 | 2012 | EGFR | 7 | 55191822 | T | G |
| rs121434568 | 25312989 | 238 | ALK | umls:C0001418 | BeFree | We report here a case of pulmonary adenocarcinoma with concomitant EGFR mutation in exon 21 (L858R) and ALK rearrangement in naive and relapsed tumors. | 0.033864221 | 2014 | EGFR | 7 | 55191822 | T | G |
| rs121434568 | 18776048 | 1956 | EGFR | umls:C0001418 | BeFree | We have used unbiased phosphoproteomic approaches, based on quantitative mass spectrometry using stable isotope labeling with amino acids in cell culture (SILAC), to identify tyrosine phosphorylated proteins in isogenic human bronchial epithelial cells (HBECs) and human lung adenocarcinoma cell lines, expressing either of the two mutant alleles of EGFR (L858R and Del E746-A750), or a mutant KRAS allele, which are common in human lung adenocarcinomas. | 0.36 | 2008 | EGFR | 7 | 55191822 | T | G |
| rs121434568 | 16705038 | 1956 | EGFR | umls:C0001418 | BeFree | Two weeks after induction with doxycycline, mice that express the EGFR(L858R) allele show diffuse lung cancer highly reminiscent of human bronchioloalveolar carcinoma and later develop interspersed multifocal adenocarcinomas. | 0.36 | 2006 | EGFR | 7 | 55191822 | T | G |
| rs121434568 | 21917678 | 1956 | EGFR | umls:C0001418 | BeFree | EGFR mutations were detected in 3 adenocarcinomas; 2 tumors had the L858R substitution and 1 an exon 19 deletion. | 0.36 | 2011 | EGFR | 7 | 55191822 | T | G |
| rs121434568 | 24221342 | 1956 | EGFR | umls:C0001418 | BeFree | Eighteen out of 20 large cell carcinomas, not otherwise specified, had glandular differentiation upon immunohistochemistry, with an exon 21 L858R EGFR mutation in one (5 %) tumor, an exon 2 KRAS mutation in eight (40 %) tumors, and an ALK translocation in one (5 %) tumor, whereas two tumors positive for CK7 and CK5/6 and negative for all other markers were considered adenocarcinoma. | 0.36 | 2013 | EGFR | 7 | 55191822 | T | G |
| rs121434568 | 24221342 | 238 | ALK | umls:C0001418 | BeFree | Eighteen out of 20 large cell carcinomas, not otherwise specified, had glandular differentiation upon immunohistochemistry, with an exon 21 L858R EGFR mutation in one (5 %) tumor, an exon 2 KRAS mutation in eight (40 %) tumors, and an ALK translocation in one (5 %) tumor, whereas two tumors positive for CK7 and CK5/6 and negative for all other markers were considered adenocarcinoma. | 0.033864221 | 2013 | EGFR | 7 | 55191822 | T | G |
| rs121434568 | 24221342 | 3845 | KRAS | umls:C0001418 | BeFree | Eighteen out of 20 large cell carcinomas, not otherwise specified, had glandular differentiation upon immunohistochemistry, with an exon 21 L858R EGFR mutation in one (5 %) tumor, an exon 2 KRAS mutation in eight (40 %) tumors, and an ALK translocation in one (5 %) tumor, whereas two tumors positive for CK7 and CK5/6 and negative for all other markers were considered adenocarcinoma. | 0.309144846 | 2013 | EGFR | 7 | 55191822 | T | G |
| rs121434568 | 24369725 | 1956 | EGFR | umls:C0001418 | BeFree | Twenty-six patients were enrolled, all of whom were diagnosed with adenocarcinoma with EGFR mutations (19del: 16, L858R: 10) except one (squamous cell carcinoma with 19del). | 0.36 | 2013 | EGFR | 7 | 55191822 | T | G |
| rs121434568 | 18509184 | 1956 | EGFR | umls:C0001418 | BeFree | In this prospective study, EGFR exon 19 deletion or L858R mutations in adenocarcinoma were the best predictors for longer TTF in stage IIIB/IV chemotherapy-naive NSCLC patients receiving first-line gefitinib monotherapy. | 0.36 | 2008 | EGFR | 7 | 55191822 | T | G |
| rs121434568 | 18776048 | 3845 | KRAS | umls:C0001418 | BeFree | We have used unbiased phosphoproteomic approaches, based on quantitative mass spectrometry using stable isotope labeling with amino acids in cell culture (SILAC), to identify tyrosine phosphorylated proteins in isogenic human bronchial epithelial cells (HBECs) and human lung adenocarcinoma cell lines, expressing either of the two mutant alleles of EGFR (L858R and Del E746-A750), or a mutant KRAS allele, which are common in human lung adenocarcinomas. | 0.309144846 | 2008 | EGFR | 7 | 55191822 | T | G |
| rs121434568 | 25320360 | 1956 | EGFR | umls:C0001418 | BeFree | Finally, we showed that EGFR(L858R)/Rhob(+/+) mice developed mainly diffuse lung tumors with a lepidic pattern, whereas EGFR(L858R)/Rhob(+/-) and EGFR(L858R)/Rhob(-/-) developed a greater number of tumors, and aggressive adenocarcinomas with invasive properties. | 0.36 | 2015 | EGFR | 7 | 55191822 | T | G |
| rs121434568 | 23757037 | 1956 | EGFR | umls:C0001418 | BeFree | Immunohistochemical expression of mutation-specific antibodies against EGFR exon 19 deletion E746-A750 ((c.2235_2249del15 or c.2236_2250del15, p. Glu746_Ala750del) and exon 21 L858R point mutation (c.2573T>G, p.Leu858Arg) were assessed in a cohort of 204 resected early stage node negative lung adenocarcinomas, and protein expression was compared with DNA analysis results from mass spectrometry analysis. | 0.36 | 2013 | EGFR | 7 | 55191822 | T | G |
| rs121434568 | 21482987 | 1956 | EGFR | umls:C0001418 | BeFree | Incidence of EGFR exon 19 deletions and L858R in tumor specimens from men and cigarette smokers with lung adenocarcinomas. | 0.36 | 2011 | EGFR | 7 | 55191822 | T | G |
| rs121434569 | 17649787 | 1956 | EGFR | umls:C0001418 | BeFree | Acquired resistance of pulmonary adenocarcinoma to initially successful targeted therapy due to EGFR mutation T790M. | 0.36 | 2007 | EGFR;EGFR-AS1 | 7 | 55181378 | C | T |
| rs121434569 | 24842519 | 1956 | EGFR | umls:C0001418 | BeFree | In conclusion, the minor EGFR T790M mutations were present in 13% of EGFR-TKI-naive surgically resected lung adenocarcinomas and were associated with drug-sensitive EGFR mutations. | 0.36 | 2014 | EGFR;EGFR-AS1 | 7 | 55181378 | C | T |
| rs121434569 | 17085664 | 1956 | EGFR | umls:C0001418 | BeFree | Novel D761Y and common secondary T790M mutations in epidermal growth factor receptor-mutant lung adenocarcinomas with acquired resistance to kinase inhibitors. | 0.36 | 2006 | EGFR;EGFR-AS1 | 7 | 55181378 | C | T |
| rs121434569 | 18093943 | 1956 | EGFR | umls:C0001418 | BeFree | In human lung adenocarcinomas harboring EGFR mutations, a second-site point mutation that substitutes methionine for threonine at position 790 (T790M) is associated with approximately half of cases of acquired resistance to the EGFR kinase inhibitors, gefitinib and erlotinib. | 0.36 | 2007 | EGFR;EGFR-AS1 | 7 | 55181378 | C | T |
| rs121434569 | 17618013 | 1956 | EGFR | umls:C0001418 | BeFree | A lung biopsy from the left lower lobe disclosed an adenocarcinoma which harbored an in-frame deletion in exon 19 (heterozygous delE746-A750) of EGFR without a second mutation such as T790M in exon 20. | 0.36 | 2007 | EGFR;EGFR-AS1 | 7 | 55181378 | C | T |
| rs121434569 | 21635547 | 1956 | EGFR | umls:C0001418 | BeFree | We analyzed 147 NSCLC tissues [70 adenocarcinomas (AD), 62 squamous cell carcinomas (SQ), 12 large cell carcinomas (LC), and three adenosquamous carcinomas] that had not been exposed to the TKI therapies, and found 12 (8.2%; 12/147) EGFR T790M mutation in eight AD (11.4%), three SQ (4.8%), and one LC (8.3%) by the PNA-clamping PCR. | 0.36 | 2011 | EGFR;EGFR-AS1 | 7 | 55181378 | C | T |
| rs121913348 | 12460919 | 673 | BRAF | umls:C0001418 | BeFree | Analysis of BRAF sequence from 127 primary human lung adenocarcinomas revealed mutations in two tumor specimens, one in exon 11 (G465V), and a second in exon 15 (L596R). | 0.054760159 | 2002 | BRAF | 7 | 140781617 | C | T,G,A |
| rs121913351 | 12460919 | 673 | BRAF | umls:C0001418 | BeFree | Analysis of BRAF sequence from 127 primary human lung adenocarcinomas revealed mutations in two tumor specimens, one in exon 11 (G465V), and a second in exon 15 (L596R). | 0.054760159 | 2002 | BRAF | 7 | 140781611 | C | T,G,A |
| rs121913366 | 12460919 | 673 | BRAF | umls:C0001418 | BeFree | Analysis of BRAF sequence from 127 primary human lung adenocarcinomas revealed mutations in two tumor specimens, one in exon 11 (G465V), and a second in exon 15 (L596R). | 0.054760159 | 2002 | BRAF | 7 | 140753345 | A | T,C |
| rs121913418 | 17085664 | 1956 | EGFR | umls:C0001418 | BeFree | Novel D761Y and common secondary T790M mutations in epidermal growth factor receptor-mutant lung adenocarcinomas with acquired resistance to kinase inhibitors. | 0.36 | 2006 | EGFR | 7 | 55174818 | G | A,T |
| rs121913444 | 24195468 | 1956 | EGFR | umls:C0001418 | BeFree | EGFR L861Q mutation was detected in both small-cell lung cancer and adenocarcinoma components. | 0.36 | 2013 | EGFR | 7 | 55191831 | T | A,G |
| rs121913529 | 23959381 | 3845 | KRAS | umls:C0001418 | BeFree | Using genetically engineered mouse models (GEMMs) for human non-small-cell lung cancer (NSCLC), we found that deletion of the essential autophagy gene, Atg7, in KRAS(G12D)-driven NSCLC inhibits tumor growth and converts adenomas and adenocarcinomas to benign oncocytomas characterized by the accumulation of respiration-defective mitochondria. | 0.309144846 | 2014 | KRAS | 12 | 25245350 | C | T,G,A |
| rs121913529 | 23959381 | 10533 | ATG7 | umls:C0001418 | BeFree | Using genetically engineered mouse models (GEMMs) for human non-small-cell lung cancer (NSCLC), we found that deletion of the essential autophagy gene, Atg7, in KRAS(G12D)-driven NSCLC inhibits tumor growth and converts adenomas and adenocarcinomas to benign oncocytomas characterized by the accumulation of respiration-defective mitochondria. | 0.000542884 | 2014 | KRAS | 12 | 25245350 | C | T,G,A |
| rs121913529 | 24858378 | 3845 | KRAS | umls:C0001418 | BeFree | Firstly, lentivirus-mediated transduction of KRAS(G12V), MYC and human papillomavirus 16 (HPV16) E6/E7 under the control of a tetracyclin-inducible promoter efficiently immortalized and transformed primary HPDECs, which gave rise to adenocarcinomas subcutaneously in an immune-deficient mouse xenograft model, depending on expression of the four genes. | 0.309144846 | 2015 | KRAS | 12 | 25245350 | C | T,G,A |
| rs121913529 | 24858378 | 4609 | MYC | umls:C0001418 | BeFree | Firstly, lentivirus-mediated transduction of KRAS(G12V), MYC and human papillomavirus 16 (HPV16) E6/E7 under the control of a tetracyclin-inducible promoter efficiently immortalized and transformed primary HPDECs, which gave rise to adenocarcinomas subcutaneously in an immune-deficient mouse xenograft model, depending on expression of the four genes. | 0.018236263 | 2015 | KRAS | 12 | 25245350 | C | T,G,A |
| rs121913535 | 24040454 | 3845 | KRAS | umls:C0001418 | BeFree | KRAS mutations were found in 18 (7.2%) patients (15 in adenocarcinoma, 2 in squamous cell carcinoma and one in NSCLC-not otherwise specified), including an uncommon substitution G13C. | 0.309144846 | 2013 | KRAS | 12 | 25245348 | C | T,G,A |
| rs121918464 | 24480804 | 5781 | PTPN11 | umls:C0001418 | BeFree | Atypical adenomatous hyperplasia and small adenomas were observed in CCSP-rtTA/tetO-SHP2(E76K) bitransgenic mice induced with Dox for 2-6 months and progressed to larger adenoma and adenocarcinoma by 9 months. | 0.000271442 | 2015 | PTPN11 | 12 | 112450406 | G | A,C |
| rs125555 | 16284366 | 4152 | MBD1 | umls:C0001418 | BeFree | These results suggest that the MBD1 -634G>A, -501delT, and Pro(401)Ala polymorphisms and their haplotypes contribute to the genetic susceptibility for lung cancer and particularly for adenocarcinoma. | 0.000271442 | 2005 | MBD1 | 18 | 50273809 | G | C,A |
| rs140693 | 16803845 | 8930 | MBD4 | umls:C0001418 | BeFree | Our findings suggest that the MBD4 Glu346Lys polymorphism could be used as a marker for genetic susceptibility to AC of the lung. | 0.002995792 | 2006 | MBD4 | 3 | 129436608 | C | T |
| rs146795390 | 18355544 | 1956 | EGFR | umls:C0001418 | BeFree | Novel germline mutation: EGFR V843I in patient with multiple lung adenocarcinomas and family members with lung cancer. | 0.36 | 2008 | EGFR | 7 | 55191776 | G | A |
| rs16906079 | 16786156 | 7099 | TLR4 | umls:C0001418 | BeFree | Heterozygous Thr 135 Ala polymorphism at leucine-rich repeat (LRR) in genomic DNA of toll-like receptor 4 in patients with poorly-differentiated gastric adenocarcinomas. | 0.005905708 | 2006 | TLR4 | 9 | 117712651 | A | G |
| rs16906252 | 21355081 | 4255 | MGMT | umls:C0001418 | BeFree | The A/G allele of rs16906252 predicts for MGMT methylation and is selectively silenced in premalignant lesions from smokers and in lung adenocarcinomas. | 0.014797276 | 2011 | MGMT | 10 | 129467281 | C | T |
| rs16969968 | 19223495 | 1138 | CHRNA5 | umls:C0001418 | BeFree | In addition, the same D398N variation correlated with CHRNA5 mRNA levels in normal lung of adenocarcinoma patients. | 0.007372538 | 2009 | CHRNA5 | 15 | 78590583 | G | A |
| rs1799782 | 15840879 | 4968 | OGG1 | umls:C0001418 | BeFree | The associations between the OGG1 Cys/Cys genotype and adenocarcinoma risk and between XRCC1 Arg194Trp polymorphism and lung cancer risk among heavy smokers remained robust given prior probabilities of 25% (FPRP = 0.238) and 10% (FPRP = 0.276), respectively. | 0.135373836 | 2005 | XRCC1 | 19 | 43553422 | G | A |
| rs1799782 | 15840879 | 7515 | XRCC1 | umls:C0001418 | BeFree | The associations between the OGG1 Cys/Cys genotype and adenocarcinoma risk and between XRCC1 Arg194Trp polymorphism and lung cancer risk among heavy smokers remained robust given prior probabilities of 25% (FPRP = 0.238) and 10% (FPRP = 0.276), respectively. | 0.033114703 | 2005 | XRCC1 | 19 | 43553422 | G | A |
| rs181696 | 22658813 | 23007 | PLCH1 | umls:C0001418 | BeFree | The G/G homozygous genotype in COMT rs4680 and A/A homozygous genotype in PLCH1 rs181696 were associated with ADC and SQC, respectively (odds ratio [OR] 0.61 and OR 2.01, respectively). | 0.000271442 | 2013 | PLCH1 | 3 | 155548315 | T | C |
| rs2228059 | 24696261 | 3601 | IL15RA | umls:C0001418 | BeFree | Interleukin 15 receptor alpha rs2228059 A > C polymorphism decreased risk of gastric cardiac adenocarcinoma in a Chinese population. | 0.000271442 | 2014 | IL15RA | 10 | 5960405 | T | G |
| rs2267437 | 19251090 | 2547 | XRCC6 | umls:C0001418 | GAD | [Acute normal tissue reactions in head-and-neck cancer patients treated with IMRT: influence of dose and association with genetic polymorphisms in DNA DSB repair genes.] | 0.002638474 | 2009 | XRCC6;DESI1 | 22 | 41620695 | C | G |
| rs2274223 | 22805490 | 51196 | PLCE1 | umls:C0001418 | BeFree | Similarly, rs2274223 in PLCE1 was associated with a reduced risk of oesophageal squamous cell cancer (OR 0.5; 95% CI 0.3-1.0), but not oesphageal adenocarcinoma. | 0.122638474 | 2012 | PLCE1 | 10 | 94306584 | A | G |
| rs2279744 | 24175836 | 4193 | MDM2 | umls:C0001418 | BeFree | We investigated the distribution of the p53 Arg72Pro (rs1042522) and MDM2 SNP309 (rs2279744) genotypes in patients and healthy control subjects to assess whether these single nucleotide polymorphisms (SNPs) are associated with an increased risk of lung adenocarcinomas in Chinese female non- smokers. | 0.009901391 | 2014 | MDM2 | 12 | 68808800 | T | G |
| rs25487 | 21198260 | 7515 | XRCC1 | umls:C0001418 | BeFree | XRCC1 Arg399Gln showed a borderline significant association with adenocarcinoma (adjusted OR 1.89, 95%CI 1.00-3.57, p=0.051). | 0.033114703 | 2010 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 15990162 | 7515 | XRCC1 | umls:C0001418 | BeFree | This is the first report that the XRCC1 Arg399Gln polymorphism might be important in relation to the risk of adenocarcinoma/adenosquamous carcinoma of the cervix. | 0.033114703 | 2005 | XRCC1 | 19 | 43551574 | T | C |
| rs2736098 | 24861918 | 7015 | TERT | umls:C0001418 | BeFree | The TERT-rs2736098 T allele was also associated with increased lung cancer risk both in adenocarcinoma and squamous cell carcinoma. | 0.011530042 | 2014 | TERT | 5 | 1293971 | C | T |
| rs2736100 | 24420154 | 3569 | IL6 | umls:C0001418 | BeFree | TERT rs2736100T/G polymorphism upregulates interleukin 6 expression in non-small cell lung cancer especially in adenocarcinoma. | 0.017359805 | 2014 | TERT | 5 | 1286401 | C | A |
| rs2736100 | 24420154 | 7015 | TERT | umls:C0001418 | BeFree | TERT rs2736100T/G polymorphism upregulates interleukin 6 expression in non-small cell lung cancer especially in adenocarcinoma. | 0.011530042 | 2014 | TERT | 5 | 1286401 | C | A |
| rs2853676 | 24681604 | 7015 | TERT | umls:C0001418 | BeFree | Two glioma risk variants, TERT rs2853676 and CDKN2BAS1 rs4977756, which are located in regions previously associated with lung cancer, were associated with increased risk of adenocarcinoma (OR = 1.16; 95% CI = 1.10 to 1.22; P = 1.1×10(-8)) and squamous cell carcinoma (OR = 1.13; CI = 1.07 to 1.19; P = 2.5×10(-5)), respectively. | 0.011530042 | 2014 | TERT | 5 | 1288432 | T | C |
| rs28934575 | NA | 7157 | TP53 | umls:C0001418 | CLINVAR | NA | 0.510581136 | NA | TP53 | 17 | 7674230 | C | T,A |
| rs3212227 | 24529168 | 3593 | IL12B | umls:C0001418 | BeFree | Interleukin 12B rs3212227 T > G polymorphism was associated with an increased risk of gastric cardiac adenocarcinoma in a Chinese population. | 0.002638474 | 2015 | IL12B | 5 | 159315942 | T | G |
| rs3213619 | 16819187 | 5243 | ABCB1 | umls:C0001418 | BeFree | MDR1 T-129C polymorphism can be predictive of differentiation, and thereby prognosis of colorectal adenocarcinomas in Japanese. | 0.014992773 | 2006 | ABCB1 | 7 | 87600877 | A | G |
| rs375444154 | 10660129 | 7157 | TP53 | umls:C0001418 | BeFree | One eccrine gland adenocarcinoma showed allelic loss of 17p and a Cys 176 Arg mutation in the p53 gene. | 0.510581136 | 2000 | TP53 | 17 | 7670706 | G | A |
| rs386493716 | 21198260 | 7515 | XRCC1 | umls:C0001418 | BeFree | XRCC1 Arg399Gln showed a borderline significant association with adenocarcinoma (adjusted OR 1.89, 95%CI 1.00-3.57, p=0.051). | 0.033114703 | 2010 | NA | NA | NA | NA | NA |
| rs386493716 | 15990162 | 7515 | XRCC1 | umls:C0001418 | BeFree | This is the first report that the XRCC1 Arg399Gln polymorphism might be important in relation to the risk of adenocarcinoma/adenosquamous carcinoma of the cervix. | 0.033114703 | 2005 | NA | NA | NA | NA | NA |
| rs386541574 | 19223495 | 1138 | CHRNA5 | umls:C0001418 | BeFree | In addition, the same D398N variation correlated with CHRNA5 mRNA levels in normal lung of adenocarcinoma patients. | 0.007372538 | 2009 | NA | NA | NA | NA | NA |
| rs386545546 | 15840879 | 4968 | OGG1 | umls:C0001418 | BeFree | The associations between the OGG1 Cys/Cys genotype and adenocarcinoma risk and between XRCC1 Arg194Trp polymorphism and lung cancer risk among heavy smokers remained robust given prior probabilities of 25% (FPRP = 0.238) and 10% (FPRP = 0.276), respectively. | 0.135373836 | 2005 | NA | NA | NA | NA | NA |
| rs386545546 | 15840879 | 7515 | XRCC1 | umls:C0001418 | BeFree | The associations between the OGG1 Cys/Cys genotype and adenocarcinoma risk and between XRCC1 Arg194Trp polymorphism and lung cancer risk among heavy smokers remained robust given prior probabilities of 25% (FPRP = 0.238) and 10% (FPRP = 0.276), respectively. | 0.033114703 | 2005 | NA | NA | NA | NA | NA |
| rs401681 | 24634236 | 81037 | CLPTM1L | umls:C0001418 | BeFree | Additionally, in a subgroup analysis by histology type, the CLPTM1L rs401681 polymorphism was found to significantly decrease the risks of both adenocarcinoma and squamous cell carcinoma of the lung in all genetic models. | 0.003452799 | 2014 | CLPTM1L | 5 | 1321972 | C | T |
| rs4072037 | 22805490 | 4582 | MUC1 | umls:C0001418 | BeFree | The rs4072037 polymorphism in MUC1 was associated with a reduced risk of GC of intestinal histological type (OR 0.4; 95% CI 0.2-0.9) and a reduced risk of oesophageal squamous cell cancer (OR 0.5; 95% CI 0.2-1.0), but not oesphageal adenocarcinoma. | 0.036462595 | 2012 | MUC1 | 1 | 155192276 | C | T |
| rs4680 | 22658813 | 23007 | PLCH1 | umls:C0001418 | BeFree | The G/G homozygous genotype in COMT rs4680 and A/A homozygous genotype in PLCH1 rs181696 were associated with ADC and SQC, respectively (odds ratio [OR] 0.61 and OR 2.01, respectively). | 0.000271442 | 2013 | COMT;MIR4761 | 22 | 19963748 | G | A |
| rs4680 | 22658813 | 1312 | COMT | umls:C0001418 | BeFree | In this study, we found that the COMT rs4680 SNP was significantly associated with a reduced risk of NSCLC, especially ADC, which suggests that this SNP may have a protective effect. | 0.002638474 | 2013 | COMT;MIR4761 | 22 | 19963748 | G | A |
| rs4844880 | 24976539 | 3290 | HSD11B1 | umls:C0001418 | BeFree | The HSD11B1 SNP (rs4844880) showed a significant increased risk for adenocarcinoma within former smokers (OR: 3.9495% CI: 1.68-9.22, P = 0.011). | 0.000271442 | 2014 | HSD11B1;LOC101930114 | 1 | 209697571 | A | T |
| rs4977756 | 24681604 | 7015 | TERT | umls:C0001418 | BeFree | Two glioma risk variants, TERT rs2853676 and CDKN2BAS1 rs4977756, which are located in regions previously associated with lung cancer, were associated with increased risk of adenocarcinoma (OR = 1.16; 95% CI = 1.10 to 1.22; P = 1.1×10(-8)) and squamous cell carcinoma (OR = 1.13; CI = 1.07 to 1.19; P = 2.5×10(-5)), respectively. | 0.011530042 | 2014 | CDKN2B-AS1 | 9 | 22068653 | G | A |
| rs4986790 | 21920464 | 7099 | TLR4 | umls:C0001418 | BeFree | Expression of STAT3 messenger RNA was higher among colonic adenocarcinomas with TLR4-D299G than those with wild-type TLR4. | 0.005905708 | 2011 | TLR4 | 9 | 117713024 | A | G |
| rs4986790 | 21920464 | 6774 | STAT3 | umls:C0001418 | BeFree | Expression of STAT3 messenger RNA was higher among colonic adenocarcinomas with TLR4-D299G than those with wild-type TLR4. | 0.133883262 | 2011 | TLR4 | 9 | 117713024 | A | G |
| rs6465657 | 20569440 | 22853 | LMTK2 | umls:C0001418 | BeFree | We determined that levels of LMTK2 transcripts in prostate adenocarcinomas were only 32% of those in benign tissues (p = 3.2 x 10(-7)), and that an independent effect of genotype at variant rs6465657 on LMTK2 expression in benign (n = 39) and malignant tissues (n = 21) was also evident (P = 0.002). | 0.000271442 | 2010 | LMTK2 | 7 | 98187015 | C | T |
| rs833061 | 18414651 | 7422 | VEGFA | umls:C0001418 | BeFree | VEGF T-1498C polymorphism, a predictive marker of differentiation of colorectal adenocarcinomas in Japanese. | 0.047655182 | 2008 | VEGFA | 6 | 43769749 | C | T |
| rs861539 | 19251090 | 7517 | XRCC3 | umls:C0001418 | GAD | [Acute normal tissue reactions in head-and-neck cancer patients treated with IMRT: influence of dose and association with genetic polymorphisms in DNA DSB repair genes.] | 0.010096888 | 2009 | KLC1;XRCC3 | 14 | 103699416 | G | A |
