All Snps(Total Genotypes:252) |
|---|
| snpId |
pubmedId |
geneId |
geneSymbol |
diseaseId |
sourceId |
sentence |
score |
Year |
geneSymbol_dbSNP |
CHROMOSOME |
POS |
REF |
ALT |
| rs1019731 | 19858071 | 3485 | IGFBP2 | umls:C0029925 | BeFree | When evaluated individually, three SNPs in the IGFBPs (rs10228265, rs4988515 and rs2270628) were associated with increased ovarian cancer risk, and several IGF1 (rs11111285, rs1996656 and rs1019731) and IGFBP3 (rs2270628, rs2854746 and rs2854744) SNPs were significantly associated with IGF1, IGFBP3 and IGFBP2 plasma levels. | 0.001085767 | 2009 | IGF1 | 12 | 102470647 | C | A |
| rs10228265 | 19858071 | 3485 | IGFBP2 | umls:C0029925 | BeFree | When evaluated individually, three SNPs in the IGFBPs (rs10228265, rs4988515 and rs2270628) were associated with increased ovarian cancer risk, and several IGF1 (rs11111285, rs1996656 and rs1019731) and IGFBP3 (rs2270628, rs2854746 and rs2854744) SNPs were significantly associated with IGF1, IGFBP3 and IGFBP2 plasma levels. | 0.001085767 | 2009 | NA | 7 | 45869316 | A | G |
| rs1042522 | 24114315 | 7157 | TP53 | umls:C0029925 | BeFree | We conducted a case-control study in order to investigate the association of RAD51 135G>C and TP53 Arg72Pro polymorphisms with breast cancer in Serbian women.48 BRCA negative women with breast cancer and family history of breast/ovarian cancer (hereditary group), 107 women with breast cancer but without family history of the disease (sporadic group) and 114 healthy women without a history of the disease (control group) were included. | 0.084734064 | 2015 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 24114315 | 5888 | RAD51 | umls:C0029925 | BeFree | We conducted a case-control study in order to investigate the association of RAD51 135G>C and TP53 Arg72Pro polymorphisms with breast cancer in Serbian women.48 BRCA negative women with breast cancer and family history of breast/ovarian cancer (hereditary group), 107 women with breast cancer but without family history of the disease (sporadic group) and 114 healthy women without a history of the disease (control group) were included. | 0.005971721 | 2015 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 23192612 | 7157 | TP53 | umls:C0029925 | BeFree | In conclusion SNPs in WRAP53 (rs2287497 and rs2287498) have stronger association with an ovarian cancer risk than rs1042522 in TP53. | 0.084734064 | 2012 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 21952824 | 7157 | TP53 | umls:C0029925 | BeFree | Meta-analysis shows significant association of the TP53 Arg72Pro with ovarian cancer risk. | 0.084734064 | 2012 | TP53 | 17 | 7676154 | G | T,C |
| rs1042522 | 15221786 | 7157 | TP53 | umls:C0029925 | BeFree | Effect of the codon 72 polymorphism (c.215G>C, p.Arg72Pro) in combination with somatic sequence variants in the TP53 gene on survival in patients with advanced ovarian carcinoma. | 0.084734064 | 2004 | TP53 | 17 | 7676154 | G | T,C |
| rs1042838 | 11323389 | 5241 | PGR | umls:C0029925 | BeFree | No significant association between progesterone receptor exon 4 Val660Leu G/T polymorphism and risk of ovarian cancer. | 0.010510288 | 2001 | PGR | 11 | 101062681 | C | A |
| rs104548 | 22926736 | 2263 | FGFR2 | umls:C0029925 | BeFree | The aim of the study is to investigate the relevance of rs1056663 and rs2708861 HUS1 polymorphisms, and rs104548, rs2981582 and rs2910164 polymorphisms of CASP8, FGFR2 and micro RNA 146A genes, respectively, as risk modifiers in hereditary breast or ovarian cancer (BC/OC) and risk factors in sporadic BC. | 0.002714419 | 2012 | NA | NA | NA | NA | NA |
| rs104548 | 22926736 | 841 | CASP8 | umls:C0029925 | BeFree | The aim of the study is to investigate the relevance of rs1056663 and rs2708861 HUS1 polymorphisms, and rs104548, rs2981582 and rs2910164 polymorphisms of CASP8, FGFR2 and micro RNA 146A genes, respectively, as risk modifiers in hereditary breast or ovarian cancer (BC/OC) and risk factors in sporadic BC. | 0.002171535 | 2012 | NA | NA | NA | NA | NA |
| rs1045485 | 20978178 | 672 | BRCA1 | umls:C0029925 | BeFree | Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. | 0.082367032 | 2010 | CASP8 | 2 | 201284866 | G | C |
| rs1045485 | 20978178 | 843 | CASP10 | umls:C0029925 | BeFree | Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. | 0.000271442 | 2010 | CASP8 | 2 | 201284866 | G | C |
| rs1045485 | 19214744 | 841 | CASP8 | umls:C0029925 | BeFree | In the present study we investigate the relevance of RAD51 -135C > G, TP53 R72P, NQO1*2 and CASP8 D302H polymorphisms as potential modifiers of BC and/or OC susceptibility conferred by these mutations. | 0.002171535 | 2010 | CASP8 | 2 | 201284866 | G | C |
| rs1045485 | 20978178 | 841 | CASP8 | umls:C0029925 | BeFree | Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. | 0.002171535 | 2010 | CASP8 | 2 | 201284866 | G | C |
| rs1045485 | 20502973 | 672 | BRCA1 | umls:C0029925 | BeFree | The p.Asp302His CASP8 variant was associated with reduced ovarian cancer risk in the familial BRCA1/2 mutation negative ovarian cancer cases (P = 0.016). | 0.082367032 | 2010 | CASP8 | 2 | 201284866 | G | C |
| rs1045485 | 20978178 | 675 | BRCA2 | umls:C0029925 | BeFree | Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. | 0.08 | 2010 | CASP8 | 2 | 201284866 | G | C |
| rs1045642 | 12142082 | 5243 | ABCB1 | umls:C0029925 | BeFree | Basal expression of the multidrug resistance gene 1 (MDR-1) is associated with the TT genotype at the polymorphic site C3435T in mammary and ovarian carcinoma cell lines. | 0.015200745 | 2002 | ABCB1 | 7 | 87509329 | A | T,G |
| rs1045642 | 21327421 | 1558 | CYP2C8 | umls:C0029925 | BeFree | CYP2C8*3 and the ABCB1 SNPs C1236T, G2677T/A, and C3435T were not statistically significantly correlated to overall survival, sensoric neuropathy, and neutropenia in 119 patients treated for ovarian cancer with paclitaxel/carboplatin. | 0.000814326 | 2011 | ABCB1 | 7 | 87509329 | A | T,G |
| rs1047972 | 25154511 | 6790 | AURKA | umls:C0029925 | BeFree | In summary, this meta-analysis suggests that STK15 F31I polymorphism is associated with increased breast cancer and ovarian cancer risk among Caucasians, F31I polymorphism is associated with decreased lung cancer risk among Caucasians, and V57I polymorphism is associated with decreased breast cancer risk among Caucasians. | 0.002442977 | 2014 | AURKA | 20 | 56386407 | T | C |
| rs1048943 | 22277800 | 1543 | CYP1A1 | umls:C0029925 | BeFree | CYP1A1 Ile462Val is a risk factor for ovarian cancer development. | 0.003257302 | 2012 | CYP1A1 | 15 | 74720644 | T | G,C,A |
| rs1048943 | 20377136 | 1543 | CYP1A1 | umls:C0029925 | BeFree | In this study, we investigated the impact of the CYP1A1 Ile462Val polymorphism upon tumor risk and disease progression in ovarian cancer patients. | 0.003257302 | 2010 | CYP1A1 | 15 | 74720644 | T | G,C,A |
| rs1051740 | 21480392 | 127 | ADH4 | umls:C0029925 | BeFree | Logistic regression analysis of genotypes obtained via Illumina GoldenGate and Sequenom iPlex technologies revealed the following age- and study-adjusted associations: EPHX1 rs1051740 with increased serous ovarian cancer risk [per-allele odds ratio (OR) 1.17, 95% confidence interval (95% CI) 1.04-1.32, P = 0.01), ADH4 r1042364 with decreased ovarian cancer risk (OR 0.90, 95% CI: 0.81-1.00, P = 0.05), and NQO1 rs291766 with increased ovarian cancer risk (OR 1.11, 95% CI: 1.00-1.23, P = 0.04). | 0.000271442 | 2011 | EPHX1 | 1 | 225831932 | T | C |
| rs1051740 | 21480392 | 2052 | EPHX1 | umls:C0029925 | BeFree | Logistic regression analysis of genotypes obtained via Illumina GoldenGate and Sequenom iPlex technologies revealed the following age- and study-adjusted associations: EPHX1 rs1051740 with increased serous ovarian cancer risk [per-allele odds ratio (OR) 1.17, 95% confidence interval (95% CI) 1.04-1.32, P = 0.01), ADH4 r1042364 with decreased ovarian cancer risk (OR 0.90, 95% CI: 0.81-1.00, P = 0.05), and NQO1 rs291766 with increased ovarian cancer risk (OR 1.11, 95% CI: 1.00-1.23, P = 0.04). | 0.001357209 | 2011 | EPHX1 | 1 | 225831932 | T | C |
| rs1051740 | 11255266 | 2052 | EPHX1 | umls:C0029925 | BeFree | The microsomal epoxide hydrolase Tyr113His polymorphism: association with risk of ovarian cancer. | 0.001357209 | 2001 | EPHX1 | 1 | 225831932 | T | C |
| rs1051740 | 21480392 | 1728 | NQO1 | umls:C0029925 | BeFree | Logistic regression analysis of genotypes obtained via Illumina GoldenGate and Sequenom iPlex technologies revealed the following age- and study-adjusted associations: EPHX1 rs1051740 with increased serous ovarian cancer risk [per-allele odds ratio (OR) 1.17, 95% confidence interval (95% CI) 1.04-1.32, P = 0.01), ADH4 r1042364 with decreased ovarian cancer risk (OR 0.90, 95% CI: 0.81-1.00, P = 0.05), and NQO1 rs291766 with increased ovarian cancer risk (OR 1.11, 95% CI: 1.00-1.23, P = 0.04). | 0.001085767 | 2011 | EPHX1 | 1 | 225831932 | T | C |
| rs1056663 | 22926736 | 2263 | FGFR2 | umls:C0029925 | BeFree | The aim of the study is to investigate the relevance of rs1056663 and rs2708861 HUS1 polymorphisms, and rs104548, rs2981582 and rs2910164 polymorphisms of CASP8, FGFR2 and micro RNA 146A genes, respectively, as risk modifiers in hereditary breast or ovarian cancer (BC/OC) and risk factors in sporadic BC. | 0.002714419 | 2012 | HUS1;PKD1L1 | 7 | 47965365 | C | T |
| rs1056663 | 22926736 | 841 | CASP8 | umls:C0029925 | BeFree | The aim of the study is to investigate the relevance of rs1056663 and rs2708861 HUS1 polymorphisms, and rs104548, rs2981582 and rs2910164 polymorphisms of CASP8, FGFR2 and micro RNA 146A genes, respectively, as risk modifiers in hereditary breast or ovarian cancer (BC/OC) and risk factors in sporadic BC. | 0.002171535 | 2012 | HUS1;PKD1L1 | 7 | 47965365 | C | T |
| rs10735810 | 20473893 | 7421 | VDR | umls:C0029925 | BeFree | The association of invasive ovarian carcinoma risk with the functional polymorphism rs2228570 (aka rs10735810; FokI polymorphism) in the vitamin D receptor (VDR) gene was examined in 1820 white non-Hispanic cases and 3479 controls in a pooled analysis of five population-based case-control studies within the Ovarian Cancer Association Consortium. | 0.001628651 | 2011 | NA | NA | NA | NA | NA |
| rs11111285 | 19858071 | 3485 | IGFBP2 | umls:C0029925 | BeFree | When evaluated individually, three SNPs in the IGFBPs (rs10228265, rs4988515 and rs2270628) were associated with increased ovarian cancer risk, and several IGF1 (rs11111285, rs1996656 and rs1019731) and IGFBP3 (rs2270628, rs2854746 and rs2854744) SNPs were significantly associated with IGF1, IGFBP3 and IGFBP2 plasma levels. | 0.001085767 | 2009 | NA | 12 | 102501478 | A | G |
| rs11169571 | 19950226 | 675 | BRCA2 | umls:C0029925 | BeFree | Based on Cox regression and Kaplan-Meier analyses, statistically significant differences were noted in BRCA2 mutation carriers by health status in 3 SNPs: CC homozygosity at rs6505162 increased ovarian cancer risk (RR 2.77; p = 0.028; 95% CI, 1.11-6.9); heterozygote SNP carriers of rs11169571 had an approximately 2 fold increased risk for developing breast/ovarian cancer, whereas heterozygotes of the rs895819 SNP had an approximately 50% reduced risk for developing breast/ovarian cancer. | 0.08 | 2010 | ATF1 | 12 | 50819982 | T | C |
| rs1128503 | 21327421 | 1558 | CYP2C8 | umls:C0029925 | BeFree | CYP2C8*3 and the ABCB1 SNPs C1236T, G2677T/A, and C3435T were not statistically significantly correlated to overall survival, sensoric neuropathy, and neutropenia in 119 patients treated for ovarian cancer with paclitaxel/carboplatin. | 0.000814326 | 2011 | ABCB1 | 7 | 87550285 | A | G |
| rs113488022 | 22820660 | 673 | BRAF | umls:C0029925 | BeFree | Genetic analyses have identified BRAF V600E mutations in a subset of ovarian carcinomas. | 0.00434307 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 17309670 | 673 | BRAF | umls:C0029925 | BeFree | Germ line and somatic mutations of BRAF V599E in ovarian carcinoma. | 0.00434307 | 2007 | BRAF | 7 | 140753336 | A | T,G,C |
| rs1143623 | 24446182 | 7099 | TLR4 | umls:C0029925 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.000542884 | 2014 | IL1B | 2 | 112838252 | C | G |
| rs1143623 | 24446182 | 3553 | IL1B | umls:C0029925 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.003800186 | 2014 | IL1B | 2 | 112838252 | C | G |
| rs1143623 | 24446182 | 6647 | SOD1 | umls:C0029925 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.000814326 | 2014 | IL1B | 2 | 112838252 | C | G |
| rs1143623 | 24446182 | 3605 | IL17A | umls:C0029925 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.001085767 | 2014 | IL1B | 2 | 112838252 | C | G |
| rs11540654 | 24114315 | 5888 | RAD51 | umls:C0029925 | BeFree | We conducted a case-control study in order to investigate the association of RAD51 135G>C and TP53 Arg72Pro polymorphisms with breast cancer in Serbian women.48 BRCA negative women with breast cancer and family history of breast/ovarian cancer (hereditary group), 107 women with breast cancer but without family history of the disease (sporadic group) and 114 healthy women without a history of the disease (control group) were included. | 0.005971721 | 2015 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 21952824 | 7157 | TP53 | umls:C0029925 | BeFree | Meta-analysis shows significant association of the TP53 Arg72Pro with ovarian cancer risk. | 0.084734064 | 2012 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 15221786 | 7157 | TP53 | umls:C0029925 | BeFree | Effect of the codon 72 polymorphism (c.215G>C, p.Arg72Pro) in combination with somatic sequence variants in the TP53 gene on survival in patients with advanced ovarian carcinoma. | 0.084734064 | 2004 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11540654 | 24114315 | 7157 | TP53 | umls:C0029925 | BeFree | We conducted a case-control study in order to investigate the association of RAD51 135G>C and TP53 Arg72Pro polymorphisms with breast cancer in Serbian women.48 BRCA negative women with breast cancer and family history of breast/ovarian cancer (hereditary group), 107 women with breast cancer but without family history of the disease (sporadic group) and 114 healthy women without a history of the disease (control group) were included. | 0.084734064 | 2015 | TP53 | 17 | 7676040 | C | T,G,A |
| rs11655505 | 23657760 | 672 | BRCA1 | umls:C0029925 | BeFree | Association of the BRCA1 promoter polymorphism rs11655505 with the risk of familial breast and/or ovarian cancer. | 0.082367032 | 2014 | BRCA1;NBR2 | 17 | 43126360 | G | A |
| rs117039649 | 25431177 | 4193 | MDM2 | umls:C0029925 | BeFree | In contrast, the less frequent SNP285G>C; rs117039649, which is in complete linkage disequilibrium with SNP309 (generating a SNP285C/309G variant haplotype), has been related to reduced MDM2 transcription and to reduced risk of breast, endometrial and ovarian cancer. | 0.004885954 | 2014 | MDM2 | 12 | 68808776 | G | C |
| rs11954856 | 24078348 | 324 | APC | umls:C0029925 | BeFree | Our study demonstrated significantly increased APC rs11954856 and rs351771 SNP frequencies in Polish women with ovarian cancer. | 0.001900093 | 2014 | APC | 5 | 112751630 | T | G |
| rs11954856 | 24078348 | 8313 | AXIN2 | umls:C0029925 | BeFree | We studied nine single nucleotide polymorphisms (SNPs) located in CTNNB1 (β-catenin) [rs4533622, rs2953], APC (rs11954856, rs351771, rs459552), and AXIN2 (rs4074947, rs7224837, rs3923087, rs2240308) in women with ovarian cancer without BRCA1/BRCA2 mutations (n = 228) and controls (n = 282). | 0.000542884 | 2014 | APC | 5 | 112751630 | T | G |
| rs11954856 | 24078348 | 1499 | CTNNB1 | umls:C0029925 | BeFree | We studied nine single nucleotide polymorphisms (SNPs) located in CTNNB1 (β-catenin) [rs4533622, rs2953], APC (rs11954856, rs351771, rs459552), and AXIN2 (rs4074947, rs7224837, rs3923087, rs2240308) in women with ovarian cancer without BRCA1/BRCA2 mutations (n = 228) and controls (n = 282). | 0.002442977 | 2014 | APC | 5 | 112751630 | T | G |
| rs11954856 | 24078348 | 672 | BRCA1 | umls:C0029925 | BeFree | We studied nine single nucleotide polymorphisms (SNPs) located in CTNNB1 (β-catenin) [rs4533622, rs2953], APC (rs11954856, rs351771, rs459552), and AXIN2 (rs4074947, rs7224837, rs3923087, rs2240308) in women with ovarian cancer without BRCA1/BRCA2 mutations (n = 228) and controls (n = 282). | 0.082367032 | 2014 | APC | 5 | 112751630 | T | G |
| rs121434592 | 17921701 | 207 | AKT1 | umls:C0029925 | BeFree | They described a novel point mutation (E17K) in the pleckstrin homology domain (PHD) of the AKT1 gene in human breast, colorectal and ovarian cancers, and demonstrated that it induces leukemia in mice. | 0.013300652 | 2007 | AKT1 | 14 | 104780214 | C | T |
| rs121434592 | 18504432 | 207 | AKT1 | umls:C0029925 | BeFree | Recently, a somatic mutation in AKT1 (E17K) has been detected in breast, colorectal, lung and ovarian cancers. | 0.013300652 | 2008 | AKT1 | 14 | 104780214 | C | T |
| rs121434592 | 17611497 | 207 | AKT1 | umls:C0029925 | BeFree | Here we report the identification of a somatic mutation in human breast, colorectal and ovarian cancers that results in a glutamic acid to lysine substitution at amino acid 17 (E17K) in the lipid-binding pocket of AKT1. | 0.013300652 | 2007 | AKT1 | 14 | 104780214 | C | T |
| rs121434592 | 20101210 | 207 | AKT1 | umls:C0029925 | BeFree | An oncogenic mutation (G49A:E17K) in the AKT1 gene has been described recently in human breast, colon, and ovarian cancers. | 0.013300652 | 2010 | AKT1 | 14 | 104780214 | C | T |
| rs121434592 | 17921701 | 5341 | PLEK | umls:C0029925 | BeFree | They described a novel point mutation (E17K) in the pleckstrin homology domain (PHD) of the AKT1 gene in human breast, colorectal and ovarian cancers, and demonstrated that it induces leukemia in mice. | 0.000271442 | 2007 | AKT1 | 14 | 104780214 | C | T |
| rs121434592 | 18392055 | 207 | AKT1 | umls:C0029925 | BeFree | An earlier study discovered an oncogenic AKT1 gene mutation (AKT1 E17K) in breast, colorectal and ovarian cancers. | 0.013300652 | 2008 | AKT1 | 14 | 104780214 | C | T |
| rs1243180 | 24755950 | 8028 | MLLT10 | umls:C0029925 | BeFree | We genotyped two tightly linked single-nucleotide polymorphisms (SNPs) at MLLT10 associated with meningioma (rs12770228) or ovarian cancer (rs1243180), and tested for associations among 295 meningioma cases, 606 glioma cases and 646 noncancer controls, all of European descent. | 0.000271442 | 2014 | MLLT10 | 10 | 21626690 | T | A |
| rs1256030 | 18704709 | 2100 | ESR2 | umls:C0029925 | BeFree | Unconditional logistic regression was used to test associations of rs1271572, rs1256030, rs1256031, and rs3020450 ESR2 genotypes with ovarian cancer risk. | 0.003257302 | 2009 | ESR2 | 14 | 64280452 | A | G |
| rs1256031 | 18704709 | 2100 | ESR2 | umls:C0029925 | BeFree | Unconditional logistic regression was used to test associations of rs1271572, rs1256030, rs1256031, and rs3020450 ESR2 genotypes with ovarian cancer risk. | 0.003257302 | 2009 | ESR2 | 14 | 64279461 | G | A |
| rs1271572 | 21673961 | 2100 | ESR2 | umls:C0029925 | BeFree | Estrogen receptor beta rs1271572 polymorphism and invasive ovarian carcinoma risk: pooled analysis within the Ovarian Cancer Association Consortium. | 0.003257302 | 2011 | ESR2 | 14 | 64295199 | A | C |
| rs1271572 | 18704709 | 2100 | ESR2 | umls:C0029925 | BeFree | Unconditional logistic regression was used to test associations of rs1271572, rs1256030, rs1256031, and rs3020450 ESR2 genotypes with ovarian cancer risk. | 0.003257302 | 2009 | ESR2 | 14 | 64295199 | A | C |
| rs12770228 | 24755950 | 8028 | MLLT10 | umls:C0029925 | BeFree | We genotyped two tightly linked single-nucleotide polymorphisms (SNPs) at MLLT10 associated with meningioma (rs12770228) or ovarian cancer (rs1243180), and tested for associations among 295 meningioma cases, 606 glioma cases and 646 noncancer controls, all of European descent. | 0.000271442 | 2014 | CASC10 | 10 | 21494705 | G | A |
| rs13010627 | 20978178 | 841 | CASP8 | umls:C0029925 | BeFree | Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. | 0.002171535 | 2010 | CASP10 | 2 | 201209375 | G | A |
| rs13010627 | 20978178 | 843 | CASP10 | umls:C0029925 | BeFree | Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. | 0.000271442 | 2010 | CASP10 | 2 | 201209375 | G | A |
| rs13010627 | 20978178 | 675 | BRCA2 | umls:C0029925 | BeFree | Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. | 0.08 | 2010 | CASP10 | 2 | 201209375 | G | A |
| rs13010627 | 20978178 | 672 | BRCA1 | umls:C0029925 | BeFree | Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. | 0.082367032 | 2010 | CASP10 | 2 | 201209375 | G | A |
| rs13063604 | 20635389 | 8607 | RUVBL1 | umls:C0029925 | BeFree | Two SNPs in RUVBL1, rs13063604 and rs7650365, were associated with increased risk of serous ovarian cancer [HetOR = 1.42 (1.15-1.74) and the HomOR = 1.63 (1.10-1.42), p-trend = 0.0002] and [HetOR = 0.97 (0.80-1.17), HomOR = 0.74 (0.58-0.93), p-trend = 0.009], respectively. | 0.000271442 | 2011 | RUVBL1 | 3 | 128085887 | G | A |
| rs13181 | 23277402 | 1027 | CDKN1B | umls:C0029925 | BeFree | The aim of the present study was to evaluate the role of SNPs in three genes, XRCC2 (R188H), ERCC2 (K751Q) and CDKN1B (V109G) which are with moderate risk for ovarian cancer susceptibility in Egyptian women. | 0.002985861 | 2013 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 23277402 | 7516 | XRCC2 | umls:C0029925 | BeFree | The aim of the present study was to evaluate the role of SNPs in three genes, XRCC2 (R188H), ERCC2 (K751Q) and CDKN1B (V109G) which are with moderate risk for ovarian cancer susceptibility in Egyptian women. | 0.002171535 | 2013 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs13181 | 23277402 | 2068 | ERCC2 | umls:C0029925 | BeFree | The aim of the present study was to evaluate the role of SNPs in three genes, XRCC2 (R188H), ERCC2 (K751Q) and CDKN1B (V109G) which are with moderate risk for ovarian cancer susceptibility in Egyptian women. | 0.001628651 | 2013 | ERCC2;KLC3 | 19 | 45351661 | T | A,G |
| rs144848 | 25348552 | 675 | BRCA2 | umls:C0029925 | BeFree | Moreover, stratified analyses by the cancer type and source of control observed significantly increased risk associated with BRCA2 N372H in subgroups with ovarian cancer, non-Hodgkin lymphoma and population-based controls, but not breast cancer or hospital-based controls. | 0.08 | 2014 | BRCA2 | 13 | 32332592 | A | C |
| rs144848 | 14555511 | 675 | BRCA2 | umls:C0029925 | BeFree | We have examined whether BRCA2 N372H or common amino acid-changing polymorphisms in BRCA1 predispose to ovarian cancer. | 0.08 | 2003 | BRCA2 | 13 | 32332592 | A | C |
| rs1466785 | 24698998 | 672 | BRCA1 | umls:C0029925 | BeFree | The strongest evidence was for rs1466785 in the NEIL2 (endonuclease VIII-like 2) gene (HR: 1.09, 95% CI (1.03-1.16), p = 2.7 × 10(-3)) for association with breast cancer risk in BRCA2 mutation carriers, and rs2304277 in the OGG1 (8-guanine DNA glycosylase) gene, with ovarian cancer risk in BRCA1 mutation carriers (HR: 1.12 95%CI: 1.03-1.21, p = 4.8 × 10(-3)). | 0.082367032 | 2014 | NA | 8 | 11765947 | C | T |
| rs1466785 | 24698998 | 252969 | NEIL2 | umls:C0029925 | BeFree | The strongest evidence was for rs1466785 in the NEIL2 (endonuclease VIII-like 2) gene (HR: 1.09, 95% CI (1.03-1.16), p = 2.7 × 10(-3)) for association with breast cancer risk in BRCA2 mutation carriers, and rs2304277 in the OGG1 (8-guanine DNA glycosylase) gene, with ovarian cancer risk in BRCA1 mutation carriers (HR: 1.12 95%CI: 1.03-1.21, p = 4.8 × 10(-3)). | 0.000271442 | 2014 | NA | 8 | 11765947 | C | T |
| rs1466785 | 24698998 | 4968 | OGG1 | umls:C0029925 | BeFree | The strongest evidence was for rs1466785 in the NEIL2 (endonuclease VIII-like 2) gene (HR: 1.09, 95% CI (1.03-1.16), p = 2.7 × 10(-3)) for association with breast cancer risk in BRCA2 mutation carriers, and rs2304277 in the OGG1 (8-guanine DNA glycosylase) gene, with ovarian cancer risk in BRCA1 mutation carriers (HR: 1.12 95%CI: 1.03-1.21, p = 4.8 × 10(-3)). | 0.000542884 | 2014 | NA | 8 | 11765947 | C | T |
| rs1466785 | 24698998 | 675 | BRCA2 | umls:C0029925 | BeFree | The strongest evidence was for rs1466785 in the NEIL2 (endonuclease VIII-like 2) gene (HR: 1.09, 95% CI (1.03-1.16), p = 2.7 × 10(-3)) for association with breast cancer risk in BRCA2 mutation carriers, and rs2304277 in the OGG1 (8-guanine DNA glycosylase) gene, with ovarian cancer risk in BRCA1 mutation carriers (HR: 1.12 95%CI: 1.03-1.21, p = 4.8 × 10(-3)). | 0.08 | 2014 | NA | 8 | 11765947 | C | T |
| rs1467465 | 24826199 | 9473 | THEMIS2 | umls:C0029925 | BeFree | Icb-1 gene polymorphism rs1467465 is associated with susceptibility to ovarian cancer. | 0.001357209 | 2014 | THEMIS2 | 1 | 27884892 | A | G |
| rs16888927 | 19276285 | 675 | BRCA2 | umls:C0029925 | BeFree | We found that 12 of the polymorphisms are associated with breast or breast and ovarian cancers, most notably rs16888927, rs16888997, and rs16889040, found in introns of RAD21, suggesting that SNPs in other genes in the DSBR pathway in addition to BRCA1 and BRCA2 may affect breast cancer risk. | 0.08 | 2009 | RAD21 | 8 | 116857221 | A | G |
| rs16888997 | 19276285 | 675 | BRCA2 | umls:C0029925 | BeFree | We found that 12 of the polymorphisms are associated with breast or breast and ovarian cancers, most notably rs16888927, rs16888997, and rs16889040, found in introns of RAD21, suggesting that SNPs in other genes in the DSBR pathway in addition to BRCA1 and BRCA2 may affect breast cancer risk. | 0.08 | 2009 | RAD21 | 8 | 116864169 | C | T |
| rs16889040 | 19276285 | 675 | BRCA2 | umls:C0029925 | BeFree | We found that 12 of the polymorphisms are associated with breast or breast and ovarian cancers, most notably rs16888927, rs16888997, and rs16889040, found in introns of RAD21, suggesting that SNPs in other genes in the DSBR pathway in addition to BRCA1 and BRCA2 may affect breast cancer risk. | 0.08 | 2009 | RAD21 | 8 | 116866452 | C | T |
| rs1695 | 20966642 | 373156 | GSTK1 | umls:C0029925 | BeFree | Several studies have examined whether GST polymorphisms (GSTM1 null/present genotype, GSTT1 null/present genotype, and GSTP1 Ile105Val) represent risk factors for ovarian cancer, as they all may denote reduced enzyme activity. | 0.002714419 | 2010 | GSTP1 | 11 | 67585218 | A | G |
| rs1695 | 20966642 | 133482 | SLCO6A1 | umls:C0029925 | BeFree | Several studies have examined whether GST polymorphisms (GSTM1 null/present genotype, GSTT1 null/present genotype, and GSTP1 Ile105Val) represent risk factors for ovarian cancer, as they all may denote reduced enzyme activity. | 0.002714419 | 2010 | GSTP1 | 11 | 67585218 | A | G |
| rs17506395 | 24316488 | 6121 | RPE65 | umls:C0029925 | BeFree | Recently, we have identified a functional single nucleotide polymorphism (SNP) rs17506395 (T>G) in p63 which was associated with female reproduction and ovarian cancer development. | 0.001357209 | 2013 | TP63 | 3 | 189803530 | T | G |
| rs1799724 | 18196539 | 7124 | TNF | umls:C0029925 | BeFree | We examined associations between six TNF single nucleotide polymorphisms (SNPs) (rs1799964, rs1800630, rs1799724, rs1800629, rs361525, rs1800610) and prostate cancer risk among 2,321 cases and 2,560 controls from two nested case-control studies within the Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial (PLCO, n = 2,561, 5 SNPs) and the Cancer Prevention Study II Nutrition Cohort (Nutrition Cohort, n = 2,320, 6 SNPs). | 0.011943442 | 2008 | LTA;TNF | 6 | 31574705 | C | T |
| rs1799964 | 18196539 | 7124 | TNF | umls:C0029925 | BeFree | We examined associations between six TNF single nucleotide polymorphisms (SNPs) (rs1799964, rs1800630, rs1799724, rs1800629, rs361525, rs1800610) and prostate cancer risk among 2,321 cases and 2,560 controls from two nested case-control studies within the Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial (PLCO, n = 2,561, 5 SNPs) and the Cancer Prevention Study II Nutrition Cohort (Nutrition Cohort, n = 2,320, 6 SNPs). | 0.011943442 | 2008 | LTA;TNF;LOC100287329 | 6 | 31574531 | T | C |
| rs1799977 | 18723338 | 4437 | MSH3 | umls:C0029925 | BeFree | When the analyses were restricted to serous type ovarian cancer, two SNPs showed marginal significant associations; the per-rare allele HR was 1.3 (1.05-1.6) (P=0.02) for rs1799977 in MLH1 and 1.4 (1.03-1.9) (P=0.04) for rs6151662 in MSH3. | 0.001628651 | 2008 | MLH1 | 3 | 37012077 | A | C,G |
| rs1799977 | 18723338 | 4292 | MLH1 | umls:C0029925 | BeFree | When the analyses were restricted to serous type ovarian cancer, two SNPs showed marginal significant associations; the per-rare allele HR was 1.3 (1.05-1.6) (P=0.02) for rs1799977 in MLH1 and 1.4 (1.03-1.9) (P=0.04) for rs6151662 in MSH3. | 0.010314791 | 2008 | MLH1 | 3 | 37012077 | A | C,G |
| rs1800610 | 18196539 | 7124 | TNF | umls:C0029925 | BeFree | We examined associations between six TNF single nucleotide polymorphisms (SNPs) (rs1799964, rs1800630, rs1799724, rs1800629, rs361525, rs1800610) and prostate cancer risk among 2,321 cases and 2,560 controls from two nested case-control studies within the Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial (PLCO, n = 2,561, 5 SNPs) and the Cancer Prevention Study II Nutrition Cohort (Nutrition Cohort, n = 2,320, 6 SNPs). | 0.011943442 | 2008 | TNF | 6 | 31576050 | G | A |
| rs1800629 | 18196539 | 7124 | TNF | umls:C0029925 | BeFree | We examined associations between six TNF single nucleotide polymorphisms (SNPs) (rs1799964, rs1800630, rs1799724, rs1800629, rs361525, rs1800610) and prostate cancer risk among 2,321 cases and 2,560 controls from two nested case-control studies within the Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial (PLCO, n = 2,561, 5 SNPs) and the Cancer Prevention Study II Nutrition Cohort (Nutrition Cohort, n = 2,320, 6 SNPs). | 0.011943442 | 2008 | TNF | 6 | 31575254 | G | A |
| rs1800630 | 18196539 | 7124 | TNF | umls:C0029925 | BeFree | We examined associations between six TNF single nucleotide polymorphisms (SNPs) (rs1799964, rs1800630, rs1799724, rs1800629, rs361525, rs1800610) and prostate cancer risk among 2,321 cases and 2,560 controls from two nested case-control studies within the Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial (PLCO, n = 2,561, 5 SNPs) and the Cancer Prevention Study II Nutrition Cohort (Nutrition Cohort, n = 2,320, 6 SNPs). | 0.011943442 | 2008 | LTA;TNF | 6 | 31574699 | C | A |
| rs1800896 | 24446182 | 7099 | TLR4 | umls:C0029925 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.000542884 | 2014 | IL10 | 1 | 206773552 | T | C |
| rs1800896 | 24446182 | 3605 | IL17A | umls:C0029925 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.001085767 | 2014 | IL10 | 1 | 206773552 | T | C |
| rs1800896 | 24446182 | 3553 | IL1B | umls:C0029925 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.003800186 | 2014 | IL10 | 1 | 206773552 | T | C |
| rs1800896 | 24446182 | 6647 | SOD1 | umls:C0029925 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.000814326 | 2014 | IL10 | 1 | 206773552 | T | C |
| rs1801133 | 22183302 | 4524 | MTHFR | umls:C0029925 | BeFree | Using PCR-RFLP and HRM analyses, we studied the distribution of BHMT (rs3733890), MTHFD1 (rs2236225), MTHFR (rs1801133), MTR (rs1805087), MTRR (rs1801394) and TCN2 (rs1801198) genotypes and alleles in patients with ovarian cancer (n = 136) and controls (n = 160). | 0.003528744 | 2012 | MTHFR | 1 | 11796321 | G | A |
| rs1801133 | 22183302 | 4522 | MTHFD1 | umls:C0029925 | BeFree | Using PCR-RFLP and HRM analyses, we studied the distribution of BHMT (rs3733890), MTHFD1 (rs2236225), MTHFR (rs1801133), MTR (rs1805087), MTRR (rs1801394) and TCN2 (rs1801198) genotypes and alleles in patients with ovarian cancer (n = 136) and controls (n = 160). | 0.000542884 | 2012 | MTHFR | 1 | 11796321 | G | A |
| rs1801155 | 10901363 | 324 | APC | umls:C0029925 | BeFree | Association of the I1307K APC mutation with hereditary and sporadic breast/ovarian cancer: more questions than answers. | 0.001900093 | 2000 | APC | 5 | 112839514 | T | A |
| rs1801155 | 9679945 | 324 | APC | umls:C0029925 | BeFree | No association of the I1307K APC allele with ovarian cancer risk in Ashkenazi Jews. | 0.001900093 | 1998 | APC | 5 | 112839514 | T | A |
| rs1801198 | 22183302 | 4524 | MTHFR | umls:C0029925 | BeFree | Using PCR-RFLP and HRM analyses, we studied the distribution of BHMT (rs3733890), MTHFD1 (rs2236225), MTHFR (rs1801133), MTR (rs1805087), MTRR (rs1801394) and TCN2 (rs1801198) genotypes and alleles in patients with ovarian cancer (n = 136) and controls (n = 160). | 0.003528744 | 2012 | TCN2 | 22 | 30615623 | G | A,C |
| rs1801198 | 22183302 | 4522 | MTHFD1 | umls:C0029925 | BeFree | Using PCR-RFLP and HRM analyses, we studied the distribution of BHMT (rs3733890), MTHFD1 (rs2236225), MTHFR (rs1801133), MTR (rs1805087), MTRR (rs1801394) and TCN2 (rs1801198) genotypes and alleles in patients with ovarian cancer (n = 136) and controls (n = 160). | 0.000542884 | 2012 | TCN2 | 22 | 30615623 | G | A,C |
| rs1801368 | 23407047 | 8379 | MAD1L1 | umls:C0029925 | BeFree | The aim of this study was to examine the relationship of the polymorphism MAD1 1673 G → A (rs1801368) with the efficiency of the SAC and the generation of aneuploidies and with the therapeutic response of patients with ovarian cancer. | 0.000271442 | 2013 | MAD1L1 | 7 | 1936821 | C | T,G |
| rs1801394 | 22183302 | 4522 | MTHFD1 | umls:C0029925 | BeFree | Using PCR-RFLP and HRM analyses, we studied the distribution of BHMT (rs3733890), MTHFD1 (rs2236225), MTHFR (rs1801133), MTR (rs1805087), MTRR (rs1801394) and TCN2 (rs1801198) genotypes and alleles in patients with ovarian cancer (n = 136) and controls (n = 160). | 0.000542884 | 2012 | MTRR;FASTKD3 | 5 | 7870860 | A | G |
| rs1801394 | 22183302 | 4524 | MTHFR | umls:C0029925 | BeFree | Using PCR-RFLP and HRM analyses, we studied the distribution of BHMT (rs3733890), MTHFD1 (rs2236225), MTHFR (rs1801133), MTR (rs1805087), MTRR (rs1801394) and TCN2 (rs1801198) genotypes and alleles in patients with ovarian cancer (n = 136) and controls (n = 160). | 0.003528744 | 2012 | MTRR;FASTKD3 | 5 | 7870860 | A | G |
| rs180177083 | 21409391 | 79728 | PALB2 | umls:C0029925 | BeFree | Two truncating mutations in PALB2 (Q66X and W1038X), one of which is has not been reported before, were detected in an independent Australian cohort of 70 individuals with breast or ovarian cancer, and have strong family histories of breast or breast/ovarian cancer. | 0.003257302 | 2011 | PALB2 | 16 | 23637865 | G | T,A |
| rs180177111 | 23302520 | 672 | BRCA1 | umls:C0029925 | BeFree | We screened the PALB2 p.Q775X variant in 71 families with at least three cases of breast cancer (n=48) or breast and ovarian cancers (n=23) that have previously been found negative for at least the most common BRCA1 and BRCA2 mutations reported in the French Canadian population and in 491 women of French Canadian descent who had invasive ovarian cancer and/or low malignant potential tumors of the major histopathological subtypes. | 0.082367032 | 2013 | PALB2 | 16 | 23629831 | G | A |
| rs180177111 | 23302520 | 675 | BRCA2 | umls:C0029925 | BeFree | We screened the PALB2 p.Q775X variant in 71 families with at least three cases of breast cancer (n=48) or breast and ovarian cancers (n=23) that have previously been found negative for at least the most common BRCA1 and BRCA2 mutations reported in the French Canadian population and in 491 women of French Canadian descent who had invasive ovarian cancer and/or low malignant potential tumors of the major histopathological subtypes. | 0.08 | 2013 | PALB2 | 16 | 23629831 | G | A |
| rs180177111 | 23302520 | 79728 | PALB2 | umls:C0029925 | BeFree | Contribution of the PALB2 c.2323C>T [p.Q775X] founder mutation in well-defined breast and/or ovarian cancer families and unselected ovarian cancer cases of French Canadian descent. | 0.003257302 | 2013 | PALB2 | 16 | 23629831 | G | A |
| rs180177132 | 21409391 | 79728 | PALB2 | umls:C0029925 | BeFree | Two truncating mutations in PALB2 (Q66X and W1038X), one of which is has not been reported before, were detected in an independent Australian cohort of 70 individuals with breast or ovarian cancer, and have strong family histories of breast or breast/ovarian cancer. | 0.003257302 | 2011 | PALB2 | 16 | 23621362 | C | T |
| rs1805087 | 22183302 | 4522 | MTHFD1 | umls:C0029925 | BeFree | Using PCR-RFLP and HRM analyses, we studied the distribution of BHMT (rs3733890), MTHFD1 (rs2236225), MTHFR (rs1801133), MTR (rs1805087), MTRR (rs1801394) and TCN2 (rs1801198) genotypes and alleles in patients with ovarian cancer (n = 136) and controls (n = 160). | 0.000542884 | 2012 | MTR | 1 | 236885200 | A | G |
| rs1805087 | 22183302 | 4524 | MTHFR | umls:C0029925 | BeFree | Using PCR-RFLP and HRM analyses, we studied the distribution of BHMT (rs3733890), MTHFD1 (rs2236225), MTHFR (rs1801133), MTR (rs1805087), MTRR (rs1801394) and TCN2 (rs1801198) genotypes and alleles in patients with ovarian cancer (n = 136) and controls (n = 160). | 0.003528744 | 2012 | MTR | 1 | 236885200 | A | G |
| rs1805386 | 19127255 | 7516 | XRCC2 | umls:C0029925 | BeFree | Three of the 10 SNPs showed evidence of an association with ovarian cancer at P< or =0.10 in a log-additive model: rs2740574 in CYP3A4 (P=0.011), rs1805386 in LIG4 (P=0.007), and rs3218536 in XRCC2 (P=0.095). | 0.002171535 | 2009 | LIG4 | 13 | 108209565 | A | G |
| rs1805386 | 19127255 | 3981 | LIG4 | umls:C0029925 | BeFree | Three of the 10 SNPs showed evidence of an association with ovarian cancer at P< or =0.10 in a log-additive model: rs2740574 in CYP3A4 (P=0.011), rs1805386 in LIG4 (P=0.007), and rs3218536 in XRCC2 (P=0.095). | 0.000542884 | 2009 | LIG4 | 13 | 108209565 | A | G |
| rs1950902 | 24287951 | 4522 | MTHFD1 | umls:C0029925 | BeFree | Lack of association between MTHFD1 G401A polymorphism and ovarian cancer susceptibility. | 0.000542884 | 2013 | MTHFD1 | 14 | 64415662 | A | G |
| rs1996656 | 19858071 | 3485 | IGFBP2 | umls:C0029925 | BeFree | When evaluated individually, three SNPs in the IGFBPs (rs10228265, rs4988515 and rs2270628) were associated with increased ovarian cancer risk, and several IGF1 (rs11111285, rs1996656 and rs1019731) and IGFBP3 (rs2270628, rs2854746 and rs2854744) SNPs were significantly associated with IGF1, IGFBP3 and IGFBP2 plasma levels. | 0.001085767 | 2009 | LOC105369942 | 12 | 102358184 | A | G |
| rs200389141 | 25182961 | 641 | BLM | umls:C0029925 | BeFree | These findings indicate that the BLM p.Q548X mutation is not a strong risk factor for ovarian cancer. | 0.000271442 | 2015 | BLM | 15 | 90761015 | C | T |
| rs2032582 | 16467099 | 5243 | ABCB1 | umls:C0029925 | BeFree | mdr-1 single nucleotide polymorphisms in ovarian cancer tissue: G2677T/A correlates with response to paclitaxel chemotherapy. | 0.015200745 | 2006 | ABCB1 | 7 | 87531302 | A | T,C |
| rs2032582 | 21327421 | 1558 | CYP2C8 | umls:C0029925 | BeFree | CYP2C8*3 and the ABCB1 SNPs C1236T, G2677T/A, and C3435T were not statistically significantly correlated to overall survival, sensoric neuropathy, and neutropenia in 119 patients treated for ovarian cancer with paclitaxel/carboplatin. | 0.000814326 | 2011 | ABCB1 | 7 | 87531302 | A | T,C |
| rs2066827 | 23277402 | 1027 | CDKN1B | umls:C0029925 | BeFree | The aim of the present study was to evaluate the role of SNPs in three genes, XRCC2 (R188H), ERCC2 (K751Q) and CDKN1B (V109G) which are with moderate risk for ovarian cancer susceptibility in Egyptian women. | 0.002985861 | 2013 | CDKN1B;GPR19 | 12 | 12718165 | T | A,C,G |
| rs2066827 | 23277402 | 2068 | ERCC2 | umls:C0029925 | BeFree | The aim of the present study was to evaluate the role of SNPs in three genes, XRCC2 (R188H), ERCC2 (K751Q) and CDKN1B (V109G) which are with moderate risk for ovarian cancer susceptibility in Egyptian women. | 0.001628651 | 2013 | CDKN1B;GPR19 | 12 | 12718165 | T | A,C,G |
| rs2066827 | 23277402 | 7516 | XRCC2 | umls:C0029925 | BeFree | The aim of the present study was to evaluate the role of SNPs in three genes, XRCC2 (R188H), ERCC2 (K751Q) and CDKN1B (V109G) which are with moderate risk for ovarian cancer susceptibility in Egyptian women. | 0.002171535 | 2013 | CDKN1B;GPR19 | 12 | 12718165 | T | A,C,G |
| rs2070074 | 12869412 | 2592 | GALT | umls:C0029925 | BeFree | The N314D polymorphism of galactose-1-phosphate uridyl transferase does not modify the risk of ovarian cancer. | 0.001628651 | 2003 | GALT | 9 | 34649445 | A | G |
| rs2107425 | 19304784 | 5744 | PTHLH | umls:C0029925 | BeFree | Initially, three SNPs (rs2107425 in MRPL23, rs7313833 in PTHLH, rs3803662 in TNRC9) were weakly associated with ovarian cancer risk and one SNP (rs4954956 in NXPH2) was associated with serous ovarian cancer in non-Hispanic white subjects (P-trend < 0.1). | 0.000542884 | 2009 | MRPL23;H19 | 11 | 1999845 | C | T |
| rs2107425 | 19304784 | 6150 | MRPL23 | umls:C0029925 | BeFree | Initially, three SNPs (rs2107425 in MRPL23, rs7313833 in PTHLH, rs3803662 in TNRC9) were weakly associated with ovarian cancer risk and one SNP (rs4954956 in NXPH2) was associated with serous ovarian cancer in non-Hispanic white subjects (P-trend < 0.1). | 0.000271442 | 2009 | MRPL23;H19 | 11 | 1999845 | C | T |
| rs2107425 | 19304784 | 11249 | NXPH2 | umls:C0029925 | BeFree | Initially, three SNPs (rs2107425 in MRPL23, rs7313833 in PTHLH, rs3803662 in TNRC9) were weakly associated with ovarian cancer risk and one SNP (rs4954956 in NXPH2) was associated with serous ovarian cancer in non-Hispanic white subjects (P-trend < 0.1). | 0.000271442 | 2009 | MRPL23;H19 | 11 | 1999845 | C | T |
| rs2107425 | 19304784 | 27324 | TOX3 | umls:C0029925 | BeFree | Initially, three SNPs (rs2107425 in MRPL23, rs7313833 in PTHLH, rs3803662 in TNRC9) were weakly associated with ovarian cancer risk and one SNP (rs4954956 in NXPH2) was associated with serous ovarian cancer in non-Hispanic white subjects (P-trend < 0.1). | 0.000542884 | 2009 | MRPL23;H19 | 11 | 1999845 | C | T |
| rs2228006 | 18723338 | 5395 | PMS2 | umls:C0029925 | BeFree | A nominally significant association (P=0.04) between genotype and ovarian cancer survival was observed for rs2228006 in PMS2. | 0.001085767 | 2008 | PMS2 | 7 | 5987144 | T | C |
| rs2228570 | 20473893 | 7421 | VDR | umls:C0029925 | BeFree | The association of invasive ovarian carcinoma risk with the functional polymorphism rs2228570 (aka rs10735810; FokI polymorphism) in the vitamin D receptor (VDR) gene was examined in 1820 white non-Hispanic cases and 3479 controls in a pooled analysis of five population-based case-control studies within the Ovarian Cancer Association Consortium. | 0.001628651 | 2011 | VDR | 12 | 47879112 | A | T,G,C |
| rs2229109 | 17828752 | 5243 | ABCB1 | umls:C0029925 | BeFree | ABCB1 G1199A polymorphism and ovarian cancer response to paclitaxel. | 0.015200745 | 2008 | ABCB1 | 7 | 87550493 | C | T,A |
| rs2236225 | 22183302 | 4524 | MTHFR | umls:C0029925 | BeFree | Using PCR-RFLP and HRM analyses, we studied the distribution of BHMT (rs3733890), MTHFD1 (rs2236225), MTHFR (rs1801133), MTR (rs1805087), MTRR (rs1801394) and TCN2 (rs1801198) genotypes and alleles in patients with ovarian cancer (n = 136) and controls (n = 160). | 0.003528744 | 2012 | MTHFD1 | 14 | 64442127 | G | A |
| rs2236225 | 22183302 | 4522 | MTHFD1 | umls:C0029925 | BeFree | Using PCR-RFLP and HRM analyses, we studied the distribution of BHMT (rs3733890), MTHFD1 (rs2236225), MTHFR (rs1801133), MTR (rs1805087), MTRR (rs1801394) and TCN2 (rs1801198) genotypes and alleles in patients with ovarian cancer (n = 136) and controls (n = 160). | 0.000542884 | 2012 | MTHFD1 | 14 | 64442127 | G | A |
| rs2240308 | 24078348 | 8313 | AXIN2 | umls:C0029925 | BeFree | We studied nine single nucleotide polymorphisms (SNPs) located in CTNNB1 (β-catenin) [rs4533622, rs2953], APC (rs11954856, rs351771, rs459552), and AXIN2 (rs4074947, rs7224837, rs3923087, rs2240308) in women with ovarian cancer without BRCA1/BRCA2 mutations (n = 228) and controls (n = 282). | 0.000542884 | 2014 | AXIN2 | 17 | 65558473 | G | A |
| rs2240308 | 24078348 | 1499 | CTNNB1 | umls:C0029925 | BeFree | We studied nine single nucleotide polymorphisms (SNPs) located in CTNNB1 (β-catenin) [rs4533622, rs2953], APC (rs11954856, rs351771, rs459552), and AXIN2 (rs4074947, rs7224837, rs3923087, rs2240308) in women with ovarian cancer without BRCA1/BRCA2 mutations (n = 228) and controls (n = 282). | 0.002442977 | 2014 | AXIN2 | 17 | 65558473 | G | A |
| rs2240308 | 24078348 | 672 | BRCA1 | umls:C0029925 | BeFree | We studied nine single nucleotide polymorphisms (SNPs) located in CTNNB1 (β-catenin) [rs4533622, rs2953], APC (rs11954856, rs351771, rs459552), and AXIN2 (rs4074947, rs7224837, rs3923087, rs2240308) in women with ovarian cancer without BRCA1/BRCA2 mutations (n = 228) and controls (n = 282). | 0.082367032 | 2014 | AXIN2 | 17 | 65558473 | G | A |
| rs2270628 | 19858071 | 3485 | IGFBP2 | umls:C0029925 | BeFree | When evaluated individually, three SNPs in the IGFBPs (rs10228265, rs4988515 and rs2270628) were associated with increased ovarian cancer risk, and several IGF1 (rs11111285, rs1996656 and rs1019731) and IGFBP3 (rs2270628, rs2854746 and rs2854744) SNPs were significantly associated with IGF1, IGFBP3 and IGFBP2 plasma levels. | 0.001085767 | 2009 | NA | 7 | 45909971 | C | T |
| rs2273535 | 25154511 | 6790 | AURKA | umls:C0029925 | BeFree | In summary, this meta-analysis suggests that STK15 F31I polymorphism is associated with increased breast cancer and ovarian cancer risk among Caucasians, F31I polymorphism is associated with decreased lung cancer risk among Caucasians, and V57I polymorphism is associated with decreased breast cancer risk among Caucasians. | 0.002442977 | 2014 | AURKA | 20 | 56386485 | A | T |
| rs2275913 | 24446182 | 7099 | TLR4 | umls:C0029925 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.000542884 | 2014 | IL17A | 6 | 52186235 | G | A |
| rs2275913 | 24446182 | 6647 | SOD1 | umls:C0029925 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.000814326 | 2014 | IL17A | 6 | 52186235 | G | A |
| rs2275913 | 24446182 | 3553 | IL1B | umls:C0029925 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.003800186 | 2014 | IL17A | 6 | 52186235 | G | A |
| rs2275913 | 24446182 | 3605 | IL17A | umls:C0029925 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.001085767 | 2014 | IL17A | 6 | 52186235 | G | A |
| rs2287497 | 23192612 | 7157 | TP53 | umls:C0029925 | BeFree | In conclusion SNPs in WRAP53 (rs2287497 and rs2287498) have stronger association with an ovarian cancer risk than rs1042522 in TP53. | 0.084734064 | 2012 | TP53;WRAP53 | 17 | 7689462 | G | A |
| rs2287498 | 23192612 | 7157 | TP53 | umls:C0029925 | BeFree | In conclusion SNPs in WRAP53 (rs2287497 and rs2287498) have stronger association with an ovarian cancer risk than rs1042522 in TP53. | 0.084734064 | 2012 | TP53;WRAP53 | 17 | 7689242 | C | T |
| rs2304277 | 24698998 | 672 | BRCA1 | umls:C0029925 | BeFree | The strongest evidence was for rs1466785 in the NEIL2 (endonuclease VIII-like 2) gene (HR: 1.09, 95% CI (1.03-1.16), p = 2.7 × 10(-3)) for association with breast cancer risk in BRCA2 mutation carriers, and rs2304277 in the OGG1 (8-guanine DNA glycosylase) gene, with ovarian cancer risk in BRCA1 mutation carriers (HR: 1.12 95%CI: 1.03-1.21, p = 4.8 × 10(-3)). | 0.082367032 | 2014 | OGG1;CAMK1 | 3 | 9759396 | G | A |
| rs2304277 | 24698998 | 675 | BRCA2 | umls:C0029925 | BeFree | The strongest evidence was for rs1466785 in the NEIL2 (endonuclease VIII-like 2) gene (HR: 1.09, 95% CI (1.03-1.16), p = 2.7 × 10(-3)) for association with breast cancer risk in BRCA2 mutation carriers, and rs2304277 in the OGG1 (8-guanine DNA glycosylase) gene, with ovarian cancer risk in BRCA1 mutation carriers (HR: 1.12 95%CI: 1.03-1.21, p = 4.8 × 10(-3)). | 0.08 | 2014 | OGG1;CAMK1 | 3 | 9759396 | G | A |
| rs2304277 | 24698998 | 252969 | NEIL2 | umls:C0029925 | BeFree | The strongest evidence was for rs1466785 in the NEIL2 (endonuclease VIII-like 2) gene (HR: 1.09, 95% CI (1.03-1.16), p = 2.7 × 10(-3)) for association with breast cancer risk in BRCA2 mutation carriers, and rs2304277 in the OGG1 (8-guanine DNA glycosylase) gene, with ovarian cancer risk in BRCA1 mutation carriers (HR: 1.12 95%CI: 1.03-1.21, p = 4.8 × 10(-3)). | 0.000271442 | 2014 | OGG1;CAMK1 | 3 | 9759396 | G | A |
| rs2304277 | 24698998 | 4968 | OGG1 | umls:C0029925 | BeFree | The strongest evidence was for rs1466785 in the NEIL2 (endonuclease VIII-like 2) gene (HR: 1.09, 95% CI (1.03-1.16), p = 2.7 × 10(-3)) for association with breast cancer risk in BRCA2 mutation carriers, and rs2304277 in the OGG1 (8-guanine DNA glycosylase) gene, with ovarian cancer risk in BRCA1 mutation carriers (HR: 1.12 95%CI: 1.03-1.21, p = 4.8 × 10(-3)). | 0.000542884 | 2014 | OGG1;CAMK1 | 3 | 9759396 | G | A |
| rs2708861 | 22926736 | 841 | CASP8 | umls:C0029925 | BeFree | The aim of the study is to investigate the relevance of rs1056663 and rs2708861 HUS1 polymorphisms, and rs104548, rs2981582 and rs2910164 polymorphisms of CASP8, FGFR2 and micro RNA 146A genes, respectively, as risk modifiers in hereditary breast or ovarian cancer (BC/OC) and risk factors in sporadic BC. | 0.002171535 | 2012 | HUS1 | 7 | 47977120 | T | G |
| rs2708861 | 22926736 | 2263 | FGFR2 | umls:C0029925 | BeFree | The aim of the study is to investigate the relevance of rs1056663 and rs2708861 HUS1 polymorphisms, and rs104548, rs2981582 and rs2910164 polymorphisms of CASP8, FGFR2 and micro RNA 146A genes, respectively, as risk modifiers in hereditary breast or ovarian cancer (BC/OC) and risk factors in sporadic BC. | 0.002714419 | 2012 | HUS1 | 7 | 47977120 | T | G |
| rs2740574 | 19127255 | 3981 | LIG4 | umls:C0029925 | BeFree | Three of the 10 SNPs showed evidence of an association with ovarian cancer at P< or =0.10 in a log-additive model: rs2740574 in CYP3A4 (P=0.011), rs1805386 in LIG4 (P=0.007), and rs3218536 in XRCC2 (P=0.095). | 0.000542884 | 2009 | CYP3A4 | 7 | 99784473 | C | T |
| rs2740574 | 19127255 | 7516 | XRCC2 | umls:C0029925 | BeFree | Three of the 10 SNPs showed evidence of an association with ovarian cancer at P< or =0.10 in a log-additive model: rs2740574 in CYP3A4 (P=0.011), rs1805386 in LIG4 (P=0.007), and rs3218536 in XRCC2 (P=0.095). | 0.002171535 | 2009 | CYP3A4 | 7 | 99784473 | C | T |
| rs2740574 | 19127255 | 1576 | CYP3A4 | umls:C0029925 | BeFree | CYP3A4 encodes a key enzyme in oestrogen metabolism and our finding between rs2740574 and risk of ovarian cancer suggests that this pathway may be involved in ovarian carcinogenesis. | 0.000271442 | 2009 | CYP3A4 | 7 | 99784473 | C | T |
| rs2854344 | 21641967 | 5925 | RB1 | umls:C0029925 | BeFree | Genetic variants with the strongest evidence for an association with ovarian cancer include the rs2854344 in the RB1 gene and SNPs on chromosomes 9p22.2, 8q24, 2q31, and 19p13. | 0.002171535 | 2011 | RB1;LPAR6 | 13 | 48423557 | G | A |
| rs2854744 | 19858071 | 3485 | IGFBP2 | umls:C0029925 | BeFree | When evaluated individually, three SNPs in the IGFBPs (rs10228265, rs4988515 and rs2270628) were associated with increased ovarian cancer risk, and several IGF1 (rs11111285, rs1996656 and rs1019731) and IGFBP3 (rs2270628, rs2854746 and rs2854744) SNPs were significantly associated with IGF1, IGFBP3 and IGFBP2 plasma levels. | 0.001085767 | 2009 | IGFBP3 | 7 | 45921476 | G | T |
| rs2854746 | 19858071 | 3485 | IGFBP2 | umls:C0029925 | BeFree | When evaluated individually, three SNPs in the IGFBPs (rs10228265, rs4988515 and rs2270628) were associated with increased ovarian cancer risk, and several IGF1 (rs11111285, rs1996656 and rs1019731) and IGFBP3 (rs2270628, rs2854746 and rs2854744) SNPs were significantly associated with IGF1, IGFBP3 and IGFBP2 plasma levels. | 0.001085767 | 2009 | IGFBP3 | 7 | 45921046 | G | C |
| rs2855192 | 19738611 | 25 | ABL1 | umls:C0029925 | BeFree | Association between risk of ovarian cancer and ABL1 rs2855192 found in the original population [odds ratio, OR(BB vs AA) 2.81 (1.29-6.09), P=0.01] was also observed in a replication population, and the association remained suggestive in the combined analysis [OR(BB vs AA) 1.59 (1.08-2.34), P=0.02]. | 0.000814326 | 2009 | ABL1 | 9 | 130852664 | G | A |
| rs28897672 | 16261409 | 672 | BRCA1 | umls:C0029925 | BeFree | Our analysis shows that testing of 4153delA, 5382insC, C61G BRCA1 mutations should be extremely effective and inexpensive tool in testing Lithuanian population aimed to identify individuals with high risk of breast and ovarian cancers. | 0.082367032 | 2005 | BRCA1 | 17 | 43106487 | A | T,G,C |
| rs28897759 | 24728577 | 675 | BRCA2 | umls:C0029925 | BeFree | The BRCA2 p.Asn3124Ile (BRCA2 c.9371A > T) variant is a rare mutation with a damaging effect on the BRCA2 protein that is strongly associated with familial breast and ovarian cancer risk, indicating its most likely pathogenic nature and clinical relevance. | 0.08 | 2014 | BRCA2 | 13 | 32394803 | A | G,T |
| rs28997576 | 16825437 | 580 | BARD1 | umls:C0029925 | BeFree | The frequency of the BARD1 Cys557Ser variant seemed to increase among patients from families with breast or ovarian cancer lacking BRCA1 or BRCA2 mutations: a significant difference was obtained compared with controls (6.8% v 2.7%; p<0.001; odds ratio (OR) 2.6; 95% confidence interval (CI) 1.7 to 4.0) and with patients from BRCA1/BRCA2 mutation-positive families (6.8% v 2.2%; p = 0.01; OR 3.2; 95% CI 1.2 to 8.3). | 0.005157396 | 2006 | BARD1 | 2 | 214752454 | C | T,G |
| rs28997576 | 16825437 | 675 | BRCA2 | umls:C0029925 | BeFree | The frequency of the BARD1 Cys557Ser variant seemed to increase among patients from families with breast or ovarian cancer lacking BRCA1 or BRCA2 mutations: a significant difference was obtained compared with controls (6.8% v 2.7%; p<0.001; odds ratio (OR) 2.6; 95% confidence interval (CI) 1.7 to 4.0) and with patients from BRCA1/BRCA2 mutation-positive families (6.8% v 2.2%; p = 0.01; OR 3.2; 95% CI 1.2 to 8.3). | 0.08 | 2006 | BARD1 | 2 | 214752454 | C | T,G |
| rs2910164 | 22926736 | 2263 | FGFR2 | umls:C0029925 | BeFree | The aim of the study is to investigate the relevance of rs1056663 and rs2708861 HUS1 polymorphisms, and rs104548, rs2981582 and rs2910164 polymorphisms of CASP8, FGFR2 and micro RNA 146A genes, respectively, as risk modifiers in hereditary breast or ovarian cancer (BC/OC) and risk factors in sporadic BC. | 0.002714419 | 2012 | LOC285628;MIR146A | 5 | 160485411 | C | G |
| rs2910164 | 22926736 | 841 | CASP8 | umls:C0029925 | BeFree | The aim of the study is to investigate the relevance of rs1056663 and rs2708861 HUS1 polymorphisms, and rs104548, rs2981582 and rs2910164 polymorphisms of CASP8, FGFR2 and micro RNA 146A genes, respectively, as risk modifiers in hereditary breast or ovarian cancer (BC/OC) and risk factors in sporadic BC. | 0.002171535 | 2012 | LOC285628;MIR146A | 5 | 160485411 | C | G |
| rs291766 | 21480392 | 2052 | EPHX1 | umls:C0029925 | BeFree | Logistic regression analysis of genotypes obtained via Illumina GoldenGate and Sequenom iPlex technologies revealed the following age- and study-adjusted associations: EPHX1 rs1051740 with increased serous ovarian cancer risk [per-allele odds ratio (OR) 1.17, 95% confidence interval (95% CI) 1.04-1.32, P = 0.01), ADH4 r1042364 with decreased ovarian cancer risk (OR 0.90, 95% CI: 0.81-1.00, P = 0.05), and NQO1 rs291766 with increased ovarian cancer risk (OR 1.11, 95% CI: 1.00-1.23, P = 0.04). | 0.001357209 | 2011 | NA | 9 | 90905456 | A | T |
| rs291766 | 21480392 | 127 | ADH4 | umls:C0029925 | BeFree | Logistic regression analysis of genotypes obtained via Illumina GoldenGate and Sequenom iPlex technologies revealed the following age- and study-adjusted associations: EPHX1 rs1051740 with increased serous ovarian cancer risk [per-allele odds ratio (OR) 1.17, 95% confidence interval (95% CI) 1.04-1.32, P = 0.01), ADH4 r1042364 with decreased ovarian cancer risk (OR 0.90, 95% CI: 0.81-1.00, P = 0.05), and NQO1 rs291766 with increased ovarian cancer risk (OR 1.11, 95% CI: 1.00-1.23, P = 0.04). | 0.000271442 | 2011 | NA | 9 | 90905456 | A | T |
| rs291766 | 21480392 | 1728 | NQO1 | umls:C0029925 | BeFree | Logistic regression analysis of genotypes obtained via Illumina GoldenGate and Sequenom iPlex technologies revealed the following age- and study-adjusted associations: EPHX1 rs1051740 with increased serous ovarian cancer risk [per-allele odds ratio (OR) 1.17, 95% confidence interval (95% CI) 1.04-1.32, P = 0.01), ADH4 r1042364 with decreased ovarian cancer risk (OR 0.90, 95% CI: 0.81-1.00, P = 0.05), and NQO1 rs291766 with increased ovarian cancer risk (OR 1.11, 95% CI: 1.00-1.23, P = 0.04). | 0.001085767 | 2011 | NA | 9 | 90905456 | A | T |
| rs2953 | 24078348 | 1499 | CTNNB1 | umls:C0029925 | BeFree | We studied nine single nucleotide polymorphisms (SNPs) located in CTNNB1 (β-catenin) [rs4533622, rs2953], APC (rs11954856, rs351771, rs459552), and AXIN2 (rs4074947, rs7224837, rs3923087, rs2240308) in women with ovarian cancer without BRCA1/BRCA2 mutations (n = 228) and controls (n = 282). | 0.002442977 | 2014 | CTNNB1;ULK4 | 3 | 41239897 | T | G |
| rs2953 | 24078348 | 672 | BRCA1 | umls:C0029925 | BeFree | We studied nine single nucleotide polymorphisms (SNPs) located in CTNNB1 (β-catenin) [rs4533622, rs2953], APC (rs11954856, rs351771, rs459552), and AXIN2 (rs4074947, rs7224837, rs3923087, rs2240308) in women with ovarian cancer without BRCA1/BRCA2 mutations (n = 228) and controls (n = 282). | 0.082367032 | 2014 | CTNNB1;ULK4 | 3 | 41239897 | T | G |
| rs2953 | 24078348 | 8313 | AXIN2 | umls:C0029925 | BeFree | We studied nine single nucleotide polymorphisms (SNPs) located in CTNNB1 (β-catenin) [rs4533622, rs2953], APC (rs11954856, rs351771, rs459552), and AXIN2 (rs4074947, rs7224837, rs3923087, rs2240308) in women with ovarian cancer without BRCA1/BRCA2 mutations (n = 228) and controls (n = 282). | 0.000542884 | 2014 | CTNNB1;ULK4 | 3 | 41239897 | T | G |
| rs2981582 | 22926736 | 841 | CASP8 | umls:C0029925 | BeFree | The aim of the study is to investigate the relevance of rs1056663 and rs2708861 HUS1 polymorphisms, and rs104548, rs2981582 and rs2910164 polymorphisms of CASP8, FGFR2 and micro RNA 146A genes, respectively, as risk modifiers in hereditary breast or ovarian cancer (BC/OC) and risk factors in sporadic BC. | 0.002171535 | 2012 | FGFR2 | 10 | 121592803 | A | G |
| rs2981582 | 22926736 | 2263 | FGFR2 | umls:C0029925 | BeFree | The aim of the study is to investigate the relevance of rs1056663 and rs2708861 HUS1 polymorphisms, and rs104548, rs2981582 and rs2910164 polymorphisms of CASP8, FGFR2 and micro RNA 146A genes, respectively, as risk modifiers in hereditary breast or ovarian cancer (BC/OC) and risk factors in sporadic BC. | 0.002714419 | 2012 | FGFR2 | 10 | 121592803 | A | G |
| rs2981582 | 17997823 | 2263 | FGFR2 | umls:C0029925 | BeFree | We also noted a correlation between the number of minor alleles of rs2981582 in FGFR2 and the average number of first-degree and second-degree relatives with breast cancer and/or ovarian cancer (P = 0.05). | 0.002714419 | 2007 | FGFR2 | 10 | 121592803 | A | G |
| rs3020450 | 18704709 | 2100 | ESR2 | umls:C0029925 | BeFree | Unconditional logistic regression was used to test associations of rs1271572, rs1256030, rs1256031, and rs3020450 ESR2 genotypes with ovarian cancer risk. | 0.003257302 | 2009 | ESR2 | 14 | 64301584 | C | T,A |
| rs3218536 | 24599673 | 7516 | XRCC2 | umls:C0029925 | BeFree | The effect of RAD51 135 G>C and XRCC2 G>A (rs3218536) polymorphisms on ovarian cancer risk among Caucasians: a meta-analysis. | 0.002171535 | 2014 | XRCC2 | 7 | 152648922 | C | T |
| rs3218536 | 23277402 | 1027 | CDKN1B | umls:C0029925 | BeFree | The aim of the present study was to evaluate the role of SNPs in three genes, XRCC2 (R188H), ERCC2 (K751Q) and CDKN1B (V109G) which are with moderate risk for ovarian cancer susceptibility in Egyptian women. | 0.002985861 | 2013 | XRCC2 | 7 | 152648922 | C | T |
| rs3218536 | 19127255 | 3981 | LIG4 | umls:C0029925 | BeFree | Three of the 10 SNPs showed evidence of an association with ovarian cancer at P< or =0.10 in a log-additive model: rs2740574 in CYP3A4 (P=0.011), rs1805386 in LIG4 (P=0.007), and rs3218536 in XRCC2 (P=0.095). | 0.000542884 | 2009 | XRCC2 | 7 | 152648922 | C | T |
| rs3218536 | 19127255 | 7516 | XRCC2 | umls:C0029925 | BeFree | Three of the 10 SNPs showed evidence of an association with ovarian cancer at P< or =0.10 in a log-additive model: rs2740574 in CYP3A4 (P=0.011), rs1805386 in LIG4 (P=0.007), and rs3218536 in XRCC2 (P=0.095). | 0.002171535 | 2009 | XRCC2 | 7 | 152648922 | C | T |
| rs3218536 | 24414483 | 7516 | XRCC2 | umls:C0029925 | BeFree | The current meta-analysis indicated that the Arg188His polymorphism in the XRCC2 gene might be a risk factor for ovarian cancer. | 0.002171535 | 2013 | XRCC2 | 7 | 152648922 | C | T |
| rs3218536 | 23277402 | 7516 | XRCC2 | umls:C0029925 | BeFree | The aim of the present study was to evaluate the role of SNPs in three genes, XRCC2 (R188H), ERCC2 (K751Q) and CDKN1B (V109G) which are with moderate risk for ovarian cancer susceptibility in Egyptian women. | 0.002171535 | 2013 | XRCC2 | 7 | 152648922 | C | T |
| rs3218536 | 23277402 | 2068 | ERCC2 | umls:C0029925 | BeFree | The aim of the present study was to evaluate the role of SNPs in three genes, XRCC2 (R188H), ERCC2 (K751Q) and CDKN1B (V109G) which are with moderate risk for ovarian cancer susceptibility in Egyptian women. | 0.001628651 | 2013 | XRCC2 | 7 | 152648922 | C | T |
| rs3218536 | 24599673 | 5888 | RAD51 | umls:C0029925 | BeFree | The effect of RAD51 135 G>C and XRCC2 G>A (rs3218536) polymorphisms on ovarian cancer risk among Caucasians: a meta-analysis. | 0.005971721 | 2014 | XRCC2 | 7 | 152648922 | C | T |
| rs351771 | 24078348 | 324 | APC | umls:C0029925 | BeFree | Our study demonstrated significantly increased APC rs11954856 and rs351771 SNP frequencies in Polish women with ovarian cancer. | 0.001900093 | 2014 | APC | 5 | 112828864 | G | A |
| rs351771 | 24078348 | 8313 | AXIN2 | umls:C0029925 | BeFree | We studied nine single nucleotide polymorphisms (SNPs) located in CTNNB1 (β-catenin) [rs4533622, rs2953], APC (rs11954856, rs351771, rs459552), and AXIN2 (rs4074947, rs7224837, rs3923087, rs2240308) in women with ovarian cancer without BRCA1/BRCA2 mutations (n = 228) and controls (n = 282). | 0.000542884 | 2014 | APC | 5 | 112828864 | G | A |
| rs351771 | 24078348 | 1499 | CTNNB1 | umls:C0029925 | BeFree | We studied nine single nucleotide polymorphisms (SNPs) located in CTNNB1 (β-catenin) [rs4533622, rs2953], APC (rs11954856, rs351771, rs459552), and AXIN2 (rs4074947, rs7224837, rs3923087, rs2240308) in women with ovarian cancer without BRCA1/BRCA2 mutations (n = 228) and controls (n = 282). | 0.002442977 | 2014 | APC | 5 | 112828864 | G | A |
| rs351771 | 24078348 | 672 | BRCA1 | umls:C0029925 | BeFree | We studied nine single nucleotide polymorphisms (SNPs) located in CTNNB1 (β-catenin) [rs4533622, rs2953], APC (rs11954856, rs351771, rs459552), and AXIN2 (rs4074947, rs7224837, rs3923087, rs2240308) in women with ovarian cancer without BRCA1/BRCA2 mutations (n = 228) and controls (n = 282). | 0.082367032 | 2014 | APC | 5 | 112828864 | G | A |
| rs361525 | 18196539 | 7124 | TNF | umls:C0029925 | BeFree | We examined associations between six TNF single nucleotide polymorphisms (SNPs) (rs1799964, rs1800630, rs1799724, rs1800629, rs361525, rs1800610) and prostate cancer risk among 2,321 cases and 2,560 controls from two nested case-control studies within the Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial (PLCO, n = 2,561, 5 SNPs) and the Cancer Prevention Study II Nutrition Cohort (Nutrition Cohort, n = 2,320, 6 SNPs). | 0.011943442 | 2008 | TNF | 6 | 31575324 | G | A |
| rs3733890 | 22183302 | 4524 | MTHFR | umls:C0029925 | BeFree | Using PCR-RFLP and HRM analyses, we studied the distribution of BHMT (rs3733890), MTHFD1 (rs2236225), MTHFR (rs1801133), MTR (rs1805087), MTRR (rs1801394) and TCN2 (rs1801198) genotypes and alleles in patients with ovarian cancer (n = 136) and controls (n = 160). | 0.003528744 | 2012 | BHMT | 5 | 79126136 | G | A |
| rs3733890 | 22183302 | 4522 | MTHFD1 | umls:C0029925 | BeFree | Using PCR-RFLP and HRM analyses, we studied the distribution of BHMT (rs3733890), MTHFD1 (rs2236225), MTHFR (rs1801133), MTR (rs1805087), MTRR (rs1801394) and TCN2 (rs1801198) genotypes and alleles in patients with ovarian cancer (n = 136) and controls (n = 160). | 0.000542884 | 2012 | BHMT | 5 | 79126136 | G | A |
| rs3803662 | 19304784 | 6150 | MRPL23 | umls:C0029925 | BeFree | Initially, three SNPs (rs2107425 in MRPL23, rs7313833 in PTHLH, rs3803662 in TNRC9) were weakly associated with ovarian cancer risk and one SNP (rs4954956 in NXPH2) was associated with serous ovarian cancer in non-Hispanic white subjects (P-trend < 0.1). | 0.000271442 | 2009 | CASC16 | 16 | 52552429 | A | G |
| rs3803662 | 19304784 | 27324 | TOX3 | umls:C0029925 | BeFree | Initially, three SNPs (rs2107425 in MRPL23, rs7313833 in PTHLH, rs3803662 in TNRC9) were weakly associated with ovarian cancer risk and one SNP (rs4954956 in NXPH2) was associated with serous ovarian cancer in non-Hispanic white subjects (P-trend < 0.1). | 0.000542884 | 2009 | CASC16 | 16 | 52552429 | A | G |
| rs3803662 | 19304784 | 11249 | NXPH2 | umls:C0029925 | BeFree | Initially, three SNPs (rs2107425 in MRPL23, rs7313833 in PTHLH, rs3803662 in TNRC9) were weakly associated with ovarian cancer risk and one SNP (rs4954956 in NXPH2) was associated with serous ovarian cancer in non-Hispanic white subjects (P-trend < 0.1). | 0.000271442 | 2009 | CASC16 | 16 | 52552429 | A | G |
| rs3803662 | 19304784 | 5744 | PTHLH | umls:C0029925 | BeFree | Initially, three SNPs (rs2107425 in MRPL23, rs7313833 in PTHLH, rs3803662 in TNRC9) were weakly associated with ovarian cancer risk and one SNP (rs4954956 in NXPH2) was associated with serous ovarian cancer in non-Hispanic white subjects (P-trend < 0.1). | 0.000542884 | 2009 | CASC16 | 16 | 52552429 | A | G |
| rs3817672 | 15668490 | 7037 | TFRC | umls:C0029925 | BeFree | In the Prostate, Lung, Colorectal and Ovarian Cancer Screening Trial, 679 persons with advanced distal adenoma and 697 control persons were genotyped for the two major HFE mutations (C282Y and H63D), one HFE polymorphism (IVS2+4), and one polymorphism (G142S) in the transferrin receptor gene (TFRC). | 0.000271442 | 2005 | TFRC | 3 | 196073940 | C | T |
| rs386545044 | 16828850 | 11200 | CHEK2 | umls:C0029925 | BeFree | Positive associations were seen with the CHEK2 I157T missense variant and ovarian cystadenomas (OR = 1.7; P = 0.005), with borderline ovarian cancers (OR = 2.6; P = 0.002) and with low-grade invasive cancers (OR = 2.1; P = 0.04). | 0.003528744 | 2006 | NA | NA | NA | NA | NA |
| rs386545618 | 24146277 | 4524 | MTHFR | umls:C0029925 | BeFree | Genetic polymorphisms of methylenetetrahydrofolate reductase (MTHFR) gene Ala222Val and susceptibility to ovary cancer: a systematic review and meta-analysis. | 0.003528744 | 2013 | NA | NA | NA | NA | NA |
| rs386561706 | 17828752 | 5243 | ABCB1 | umls:C0029925 | BeFree | ABCB1 G1199A polymorphism and ovarian cancer response to paclitaxel. | 0.015200745 | 2008 | NA | NA | NA | NA | NA |
| rs386576380 | 16261409 | 672 | BRCA1 | umls:C0029925 | BeFree | Our analysis shows that testing of 4153delA, 5382insC, C61G BRCA1 mutations should be extremely effective and inexpensive tool in testing Lithuanian population aimed to identify individuals with high risk of breast and ovarian cancers. | 0.082367032 | 2005 | NA | NA | NA | NA | NA |
| rs386596107 | 17646272 | 6648 | SOD2 | umls:C0029925 | BeFree | Functional variant of manganese superoxide dismutase (SOD2 V16A) polymorphism is associated with prostate cancer risk in the prostate, lung, colorectal, and ovarian cancer study. | 0.001085767 | 2007 | NA | NA | NA | NA | NA |
| rs3923087 | 24078348 | 1499 | CTNNB1 | umls:C0029925 | BeFree | We studied nine single nucleotide polymorphisms (SNPs) located in CTNNB1 (β-catenin) [rs4533622, rs2953], APC (rs11954856, rs351771, rs459552), and AXIN2 (rs4074947, rs7224837, rs3923087, rs2240308) in women with ovarian cancer without BRCA1/BRCA2 mutations (n = 228) and controls (n = 282). | 0.002442977 | 2014 | AXIN2 | 17 | 65553143 | T | C |
| rs3923087 | 24078348 | 672 | BRCA1 | umls:C0029925 | BeFree | We studied nine single nucleotide polymorphisms (SNPs) located in CTNNB1 (β-catenin) [rs4533622, rs2953], APC (rs11954856, rs351771, rs459552), and AXIN2 (rs4074947, rs7224837, rs3923087, rs2240308) in women with ovarian cancer without BRCA1/BRCA2 mutations (n = 228) and controls (n = 282). | 0.082367032 | 2014 | AXIN2 | 17 | 65553143 | T | C |
| rs3923087 | 24078348 | 8313 | AXIN2 | umls:C0029925 | BeFree | We studied nine single nucleotide polymorphisms (SNPs) located in CTNNB1 (β-catenin) [rs4533622, rs2953], APC (rs11954856, rs351771, rs459552), and AXIN2 (rs4074947, rs7224837, rs3923087, rs2240308) in women with ovarian cancer without BRCA1/BRCA2 mutations (n = 228) and controls (n = 282). | 0.000542884 | 2014 | AXIN2 | 17 | 65553143 | T | C |
| rs4074947 | 24078348 | 8313 | AXIN2 | umls:C0029925 | BeFree | We studied nine single nucleotide polymorphisms (SNPs) located in CTNNB1 (β-catenin) [rs4533622, rs2953], APC (rs11954856, rs351771, rs459552), and AXIN2 (rs4074947, rs7224837, rs3923087, rs2240308) in women with ovarian cancer without BRCA1/BRCA2 mutations (n = 228) and controls (n = 282). | 0.000542884 | 2014 | AXIN2 | 17 | 65531102 | G | A |
| rs4074947 | 24078348 | 1499 | CTNNB1 | umls:C0029925 | BeFree | We studied nine single nucleotide polymorphisms (SNPs) located in CTNNB1 (β-catenin) [rs4533622, rs2953], APC (rs11954856, rs351771, rs459552), and AXIN2 (rs4074947, rs7224837, rs3923087, rs2240308) in women with ovarian cancer without BRCA1/BRCA2 mutations (n = 228) and controls (n = 282). | 0.002442977 | 2014 | AXIN2 | 17 | 65531102 | G | A |
| rs4074947 | 24078348 | 672 | BRCA1 | umls:C0029925 | BeFree | We studied nine single nucleotide polymorphisms (SNPs) located in CTNNB1 (β-catenin) [rs4533622, rs2953], APC (rs11954856, rs351771, rs459552), and AXIN2 (rs4074947, rs7224837, rs3923087, rs2240308) in women with ovarian cancer without BRCA1/BRCA2 mutations (n = 228) and controls (n = 282). | 0.082367032 | 2014 | AXIN2 | 17 | 65531102 | G | A |
| rs41293455 | 15883839 | 672 | BRCA1 | umls:C0029925 | BeFree | Molecular and genealogical characterization of the R1443X BRCA1 mutation in high-risk French-Canadian breast/ovarian cancer families. | 0.082367032 | 2005 | BRCA1 | 17 | 43082434 | G | C,A |
| rs41293459 | 22889855 | 672 | BRCA1 | umls:C0029925 | BeFree | BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk. | 0.082367032 | 2012 | BRCA1 | 17 | 43063930 | C | T,G,A |
| rs4533622 | 24078348 | 672 | BRCA1 | umls:C0029925 | BeFree | We studied nine single nucleotide polymorphisms (SNPs) located in CTNNB1 (β-catenin) [rs4533622, rs2953], APC (rs11954856, rs351771, rs459552), and AXIN2 (rs4074947, rs7224837, rs3923087, rs2240308) in women with ovarian cancer without BRCA1/BRCA2 mutations (n = 228) and controls (n = 282). | 0.082367032 | 2014 | CTNNB1 | 3 | 41200847 | C | A |
| rs4533622 | 24078348 | 8313 | AXIN2 | umls:C0029925 | BeFree | We studied nine single nucleotide polymorphisms (SNPs) located in CTNNB1 (β-catenin) [rs4533622, rs2953], APC (rs11954856, rs351771, rs459552), and AXIN2 (rs4074947, rs7224837, rs3923087, rs2240308) in women with ovarian cancer without BRCA1/BRCA2 mutations (n = 228) and controls (n = 282). | 0.000542884 | 2014 | CTNNB1 | 3 | 41200847 | C | A |
| rs4533622 | 24078348 | 1499 | CTNNB1 | umls:C0029925 | BeFree | We studied nine single nucleotide polymorphisms (SNPs) located in CTNNB1 (β-catenin) [rs4533622, rs2953], APC (rs11954856, rs351771, rs459552), and AXIN2 (rs4074947, rs7224837, rs3923087, rs2240308) in women with ovarian cancer without BRCA1/BRCA2 mutations (n = 228) and controls (n = 282). | 0.002442977 | 2014 | CTNNB1 | 3 | 41200847 | C | A |
| rs459552 | 24078348 | 8313 | AXIN2 | umls:C0029925 | BeFree | We studied nine single nucleotide polymorphisms (SNPs) located in CTNNB1 (β-catenin) [rs4533622, rs2953], APC (rs11954856, rs351771, rs459552), and AXIN2 (rs4074947, rs7224837, rs3923087, rs2240308) in women with ovarian cancer without BRCA1/BRCA2 mutations (n = 228) and controls (n = 282). | 0.000542884 | 2014 | APC | 5 | 112841059 | T | A |
| rs459552 | 24078348 | 1499 | CTNNB1 | umls:C0029925 | BeFree | We studied nine single nucleotide polymorphisms (SNPs) located in CTNNB1 (β-catenin) [rs4533622, rs2953], APC (rs11954856, rs351771, rs459552), and AXIN2 (rs4074947, rs7224837, rs3923087, rs2240308) in women with ovarian cancer without BRCA1/BRCA2 mutations (n = 228) and controls (n = 282). | 0.002442977 | 2014 | APC | 5 | 112841059 | T | A |
| rs459552 | 24078348 | 672 | BRCA1 | umls:C0029925 | BeFree | We studied nine single nucleotide polymorphisms (SNPs) located in CTNNB1 (β-catenin) [rs4533622, rs2953], APC (rs11954856, rs351771, rs459552), and AXIN2 (rs4074947, rs7224837, rs3923087, rs2240308) in women with ovarian cancer without BRCA1/BRCA2 mutations (n = 228) and controls (n = 282). | 0.082367032 | 2014 | APC | 5 | 112841059 | T | A |
| rs4680 | 25292091 | 1312 | COMT | umls:C0029925 | BeFree | Lack of association between the COMT rs4680 polymorphism and ovarian cancer risk: evidence from a meta-analysis of 3,940 individuals. | 0.000814326 | 2015 | COMT;MIR4761 | 22 | 19963748 | G | A |
| rs4880 | 17646272 | 6648 | SOD2 | umls:C0029925 | BeFree | Functional variant of manganese superoxide dismutase (SOD2 V16A) polymorphism is associated with prostate cancer risk in the prostate, lung, colorectal, and ovarian cancer study. | 0.001085767 | 2007 | SOD2 | 6 | 159692840 | A | G |
| rs4954956 | 19304784 | 27324 | TOX3 | umls:C0029925 | BeFree | Initially, three SNPs (rs2107425 in MRPL23, rs7313833 in PTHLH, rs3803662 in TNRC9) were weakly associated with ovarian cancer risk and one SNP (rs4954956 in NXPH2) was associated with serous ovarian cancer in non-Hispanic white subjects (P-trend < 0.1). | 0.000542884 | 2009 | NA | 2 | 138787007 | C | T |
| rs4954956 | 19304784 | 6150 | MRPL23 | umls:C0029925 | BeFree | Initially, three SNPs (rs2107425 in MRPL23, rs7313833 in PTHLH, rs3803662 in TNRC9) were weakly associated with ovarian cancer risk and one SNP (rs4954956 in NXPH2) was associated with serous ovarian cancer in non-Hispanic white subjects (P-trend < 0.1). | 0.000271442 | 2009 | NA | 2 | 138787007 | C | T |
| rs4954956 | 19304784 | 11249 | NXPH2 | umls:C0029925 | BeFree | Initially, three SNPs (rs2107425 in MRPL23, rs7313833 in PTHLH, rs3803662 in TNRC9) were weakly associated with ovarian cancer risk and one SNP (rs4954956 in NXPH2) was associated with serous ovarian cancer in non-Hispanic white subjects (P-trend < 0.1). | 0.000271442 | 2009 | NA | 2 | 138787007 | C | T |
| rs4954956 | 19304784 | 5744 | PTHLH | umls:C0029925 | BeFree | Initially, three SNPs (rs2107425 in MRPL23, rs7313833 in PTHLH, rs3803662 in TNRC9) were weakly associated with ovarian cancer risk and one SNP (rs4954956 in NXPH2) was associated with serous ovarian cancer in non-Hispanic white subjects (P-trend < 0.1). | 0.000542884 | 2009 | NA | 2 | 138787007 | C | T |
| rs4986790 | 24446182 | 3605 | IL17A | umls:C0029925 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.001085767 | 2014 | TLR4 | 9 | 117713024 | A | G |
| rs4986790 | 24446182 | 3553 | IL1B | umls:C0029925 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.003800186 | 2014 | TLR4 | 9 | 117713024 | A | G |
| rs4986790 | 24446182 | 6647 | SOD1 | umls:C0029925 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.000814326 | 2014 | TLR4 | 9 | 117713024 | A | G |
| rs4986790 | 24446182 | 7099 | TLR4 | umls:C0029925 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.000542884 | 2014 | TLR4 | 9 | 117713024 | A | G |
| rs4986791 | 24446182 | 3553 | IL1B | umls:C0029925 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.003800186 | 2014 | TLR4 | 9 | 117713324 | C | T |
| rs4986791 | 24446182 | 6647 | SOD1 | umls:C0029925 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.000814326 | 2014 | TLR4 | 9 | 117713324 | C | T |
| rs4986791 | 24446182 | 7099 | TLR4 | umls:C0029925 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.000542884 | 2014 | TLR4 | 9 | 117713324 | C | T |
| rs4986791 | 24446182 | 3605 | IL17A | umls:C0029925 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.001085767 | 2014 | TLR4 | 9 | 117713324 | C | T |
| rs4988515 | 19858071 | 3485 | IGFBP2 | umls:C0029925 | BeFree | When evaluated individually, three SNPs in the IGFBPs (rs10228265, rs4988515 and rs2270628) were associated with increased ovarian cancer risk, and several IGF1 (rs11111285, rs1996656 and rs1019731) and IGFBP3 (rs2270628, rs2854746 and rs2854744) SNPs were significantly associated with IGF1, IGFBP3 and IGFBP2 plasma levels. | 0.001085767 | 2009 | IGFBP1 | 7 | 45893001 | C | T |
| rs4998557 | 24446182 | 7099 | TLR4 | umls:C0029925 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.000542884 | 2014 | SOD1 | 21 | 31662579 | G | A |
| rs4998557 | 24446182 | 3605 | IL17A | umls:C0029925 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.001085767 | 2014 | SOD1 | 21 | 31662579 | G | A |
| rs4998557 | 24446182 | 3553 | IL1B | umls:C0029925 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.003800186 | 2014 | SOD1 | 21 | 31662579 | G | A |
| rs4998557 | 24446182 | 6647 | SOD1 | umls:C0029925 | BeFree | A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85). | 0.000814326 | 2014 | SOD1 | 21 | 31662579 | G | A |
| rs523349 | 17182175 | 1586 | CYP17A1 | umls:C0029925 | BeFree | No association was observed for the vast majority of polymorphisms, but there was suggestive evidence for altered risk of ovarian cancer death associated with the CYP17 5'UTR C allele (HR 1.30; 95% CI=1.02-1.68, p= 0.04), and for the SRD5A2 V89L C allele (HR 0.79; 95% CI=0.62-1.01, p=0.06). | 0.001628651 | 2007 | SRD5A2 | 2 | 31580636 | G | C |
| rs523349 | 17182175 | 6716 | SRD5A2 | umls:C0029925 | BeFree | No association was observed for the vast majority of polymorphisms, but there was suggestive evidence for altered risk of ovarian cancer death associated with the CYP17 5'UTR C allele (HR 1.30; 95% CI=1.02-1.68, p= 0.04), and for the SRD5A2 V89L C allele (HR 0.79; 95% CI=0.62-1.01, p=0.06). | 0.000542884 | 2007 | SRD5A2 | 2 | 31580636 | G | C |
| rs5275 | 20559705 | 5743 | PTGS2 | umls:C0029925 | BeFree | Pooled analysis of the association of PTGS2 rs5275 polymorphism and NSAID use with invasive ovarian carcinoma risk. | 0.009500466 | 2010 | PTGS2 | 1 | 186673926 | A | G |
| rs5918 | 19876733 | 27319 | BHLHE22 | umls:C0029925 | BeFree | A functional Leu33Pro polymorphism (rs5918) in the beta(3) subunit of the integrin gene (ITGB3) has previously been suggested to act as a modifier of ovarian cancer risk in Polish BRCA1 mutation carriers. | 0.002714419 | 2010 | ITGB3 | 17 | 47283364 | T | C |
| rs6151662 | 18723338 | 4437 | MSH3 | umls:C0029925 | BeFree | When the analyses were restricted to serous type ovarian cancer, two SNPs showed marginal significant associations; the per-rare allele HR was 1.3 (1.05-1.6) (P=0.02) for rs1799977 in MLH1 and 1.4 (1.03-1.9) (P=0.04) for rs6151662 in MSH3. | 0.001628651 | 2008 | MSH3 | 5 | 80677451 | G | A |
| rs6151662 | 18723338 | 4292 | MLH1 | umls:C0029925 | BeFree | When the analyses were restricted to serous type ovarian cancer, two SNPs showed marginal significant associations; the per-rare allele HR was 1.3 (1.05-1.6) (P=0.02) for rs1799977 in MLH1 and 1.4 (1.03-1.9) (P=0.04) for rs6151662 in MSH3. | 0.010314791 | 2008 | MSH3 | 5 | 80677451 | G | A |
| rs6166 | 24658926 | 2492 | FSHR | umls:C0029925 | BeFree | The Asn680Ser polymorphism of the follicle stimulating hormone receptor gene and ovarian cancer risk: a meta-analysis. | 0.001900093 | 2014 | FSHR | 2 | 48962782 | C | T |
| rs61764370 | 20676756 | 3845 | KRAS | umls:C0029925 | BeFree | Recently, a variant allele in the 3'UTR of the KRAS gene (rs61764370 T>G) was shown to be associated with an increased risk for developing non-small cell lung cancer, as well as ovarian cancer, and was most enriched in ovarian cancer patients from hereditary breast and ovarian cancer families. | 0.006514605 | 2011 | KRAS | 12 | 25207290 | A | C |
| rs6505162 | 19950226 | 675 | BRCA2 | umls:C0029925 | BeFree | Based on Cox regression and Kaplan-Meier analyses, statistically significant differences were noted in BRCA2 mutation carriers by health status in 3 SNPs: CC homozygosity at rs6505162 increased ovarian cancer risk (RR 2.77; p = 0.028; 95% CI, 1.11-6.9); heterozygote SNP carriers of rs11169571 had an approximately 2 fold increased risk for developing breast/ovarian cancer, whereas heterozygotes of the rs895819 SNP had an approximately 50% reduced risk for developing breast/ovarian cancer. | 0.08 | 2010 | NSRP1;MIR423;MIR3184;LOC105371719 | 17 | 30117165 | A | C,T |
| rs7224837 | 24078348 | 672 | BRCA1 | umls:C0029925 | BeFree | We studied nine single nucleotide polymorphisms (SNPs) located in CTNNB1 (β-catenin) [rs4533622, rs2953], APC (rs11954856, rs351771, rs459552), and AXIN2 (rs4074947, rs7224837, rs3923087, rs2240308) in women with ovarian cancer without BRCA1/BRCA2 mutations (n = 228) and controls (n = 282). | 0.082367032 | 2014 | AXIN2 | 17 | 65532005 | G | A |
| rs7224837 | 24078348 | 1499 | CTNNB1 | umls:C0029925 | BeFree | We studied nine single nucleotide polymorphisms (SNPs) located in CTNNB1 (β-catenin) [rs4533622, rs2953], APC (rs11954856, rs351771, rs459552), and AXIN2 (rs4074947, rs7224837, rs3923087, rs2240308) in women with ovarian cancer without BRCA1/BRCA2 mutations (n = 228) and controls (n = 282). | 0.002442977 | 2014 | AXIN2 | 17 | 65532005 | G | A |
| rs7224837 | 24078348 | 8313 | AXIN2 | umls:C0029925 | BeFree | We studied nine single nucleotide polymorphisms (SNPs) located in CTNNB1 (β-catenin) [rs4533622, rs2953], APC (rs11954856, rs351771, rs459552), and AXIN2 (rs4074947, rs7224837, rs3923087, rs2240308) in women with ovarian cancer without BRCA1/BRCA2 mutations (n = 228) and controls (n = 282). | 0.000542884 | 2014 | AXIN2 | 17 | 65532005 | G | A |
| rs7313833 | 19304784 | 5744 | PTHLH | umls:C0029925 | BeFree | Initially, three SNPs (rs2107425 in MRPL23, rs7313833 in PTHLH, rs3803662 in TNRC9) were weakly associated with ovarian cancer risk and one SNP (rs4954956 in NXPH2) was associated with serous ovarian cancer in non-Hispanic white subjects (P-trend < 0.1). | 0.000542884 | 2009 | NA | 12 | 27930263 | G | A |
| rs7313833 | 19304784 | 6150 | MRPL23 | umls:C0029925 | BeFree | Initially, three SNPs (rs2107425 in MRPL23, rs7313833 in PTHLH, rs3803662 in TNRC9) were weakly associated with ovarian cancer risk and one SNP (rs4954956 in NXPH2) was associated with serous ovarian cancer in non-Hispanic white subjects (P-trend < 0.1). | 0.000271442 | 2009 | NA | 12 | 27930263 | G | A |
| rs7313833 | 19304784 | 27324 | TOX3 | umls:C0029925 | BeFree | Initially, three SNPs (rs2107425 in MRPL23, rs7313833 in PTHLH, rs3803662 in TNRC9) were weakly associated with ovarian cancer risk and one SNP (rs4954956 in NXPH2) was associated with serous ovarian cancer in non-Hispanic white subjects (P-trend < 0.1). | 0.000542884 | 2009 | NA | 12 | 27930263 | G | A |
| rs7313833 | 19304784 | 11249 | NXPH2 | umls:C0029925 | BeFree | Initially, three SNPs (rs2107425 in MRPL23, rs7313833 in PTHLH, rs3803662 in TNRC9) were weakly associated with ovarian cancer risk and one SNP (rs4954956 in NXPH2) was associated with serous ovarian cancer in non-Hispanic white subjects (P-trend < 0.1). | 0.000271442 | 2009 | NA | 12 | 27930263 | G | A |
| rs7650365 | 20635389 | 8607 | RUVBL1 | umls:C0029925 | BeFree | Two SNPs in RUVBL1, rs13063604 and rs7650365, were associated with increased risk of serous ovarian cancer [HetOR = 1.42 (1.15-1.74) and the HomOR = 1.63 (1.10-1.42), p-trend = 0.0002] and [HetOR = 0.97 (0.80-1.17), HomOR = 0.74 (0.58-0.93), p-trend = 0.009], respectively. | 0.000271442 | 2011 | RUVBL1 | 3 | 128115160 | G | A |
| rs7727832 | 24146310 | 2246 | FGF1 | umls:C0029925 | BeFree | In particular, FGF1 [fibroblast growth factor 1 (acidic)] SNP rs7727832 showed the most significant association with ovarian cancer (odds ratio, 2.27; 95% CI, 1.31-3.95). | 0.001085767 | 2014 | FGF1 | 5 | 142611975 | C | T |
| rs7797466 | 16774946 | 5395 | PMS2 | umls:C0029925 | BeFree | The observed association of PMS2 rs7797466 with ovarian cancer warrants confirmation in an independent study. | 0.001085767 | 2006 | PMS2 | 7 | 6007152 | G | A |
| rs7903146 | 23951231 | 6934 | TCF7L2 | umls:C0029925 | BeFree | The present meta-analysis indicated that there were significantly associations between the TCF7L2 rs7903146 polymorphism and risk of breast, prostate and colon cancers, rather than colorectal cancer, lung cancer, and ovarian cancer. | 0.000814326 | 2013 | TCF7L2 | 10 | 112998590 | C | T |
| rs80356929 | 11748848 | 672 | BRCA1 | umls:C0029925 | BeFree | Furthermore, a novel missense substitution M18K in BRCA1 gene in a breast/ovarian cancer family was identified which lies adjacent just upstream of the most highly conserved C3HC4 RING zinc finger motif. | 0.082367032 | 2001 | BRCA1;NBR2 | 17 | 43124044 | A | T,G |
| rs80356937 | 19747471 | 672 | BRCA1 | umls:C0029925 | BeFree | 5382insC frameshift mutation along with 5331G>A (G1738R) missense mutation, both found in exon 20 of the BRCA1 gene, are relatively frequent among the Greek breast and ovarian cancer population (46%). | 0.082367032 | 2010 | BRCA1 | 17 | 43057117 | C | T |
| rs80357327 | 20437199 | 672 | BRCA1 | umls:C0029925 | BeFree | Identification of a novel BRCA1 nucleotide 4803delCC/c.4684delCC mutation and a nucleotide 249T>A/c.130T>A (p.Cys44Ser) mutation in two Greenlandic Inuit families: implications for genetic screening of Greenlandic Inuit families with high risk for breast and/or ovarian cancer. | 0.082367032 | 2010 | BRCA1 | 17 | 43115730 | A | T,G,C |
| rs80358721 | 19654294 | 56652 | C10orf2 | umls:C0029925 | BeFree | Three ovarian cancer cell lines (PEO1, PEO4, and PEO6) were derived from a BRCA2 mutation [5193C>G (Y1655X)] carrier with ovarian carcinoma with acquired cisplatin resistance and a secondary BRCA2 mutation [5193C>T (Y1655Y)] that canceled the inherited mutation. | 0.002442977 | 2009 | BRCA2 | 13 | 32339320 | C | A,G |
| rs8176318 | 24915755 | 672 | BRCA1 | umls:C0029925 | BeFree | A germline, variant in the BRCA1 3'UTR (rs8176318) was previously shown to predict breast and ovarian cancer risk in women from high-risk families, as well as increased risk of triple negative breast cancer. | 0.082367032 | 2014 | BRCA1 | 17 | 43045257 | C | A |
| rs861539 | 24254304 | 7517 | XRCC3 | umls:C0029925 | BeFree | XRCC3 Thr241Met polymorphism and ovarian cancer risk: a meta-analysis. | 0.001900093 | 2013 | KLC1;XRCC3 | 14 | 103699416 | G | A |
| rs895819 | 19950226 | 675 | BRCA2 | umls:C0029925 | BeFree | Based on Cox regression and Kaplan-Meier analyses, statistically significant differences were noted in BRCA2 mutation carriers by health status in 3 SNPs: CC homozygosity at rs6505162 increased ovarian cancer risk (RR 2.77; p = 0.028; 95% CI, 1.11-6.9); heterozygote SNP carriers of rs11169571 had an approximately 2 fold increased risk for developing breast/ovarian cancer, whereas heterozygotes of the rs895819 SNP had an approximately 50% reduced risk for developing breast/ovarian cancer. | 0.08 | 2010 | LOC284454;MIR23A;MIR24-2;MIR27A | 19 | 13836478 | T | A,C,G |
