Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434592
rs121434592
0.010 GeneticVariation BEFREE Both assays are employed at centralized testing laboratories operating according to quality standards for prospective identification of the AKT1 E17K mutation in ER+ breast cancer patients in the context of a clinical trial evaluating the AKT inhibitor AZD5363 in combination with endocrine (fulvestrant) therapy. 28472036

2017

dbSNP: rs13267382
rs13267382
0.010 GeneticVariation BEFREE The remaining two gene-environment interactions were also identified in relation to ER- breast cancer risk and were found between 3p21-rs6796502 and age at menarche (OR<sub>int</sub>  = 1.26, 95% CI: 1.12-1.43, p<sub>int</sub> =1.8 × 10<sup>-4</sup> ) and between 8q23-rs13267382 and age at first full-term pregnancy (OR<sub>int</sub>  = 0.89, 95% CI: 0.83-0.95, p<sub>int</sub>  = 5.2 × 10<sup>-4</sup> ). 28670784

2017

dbSNP: rs190843378
rs190843378
0.010 GeneticVariation BEFREE PRKAG3 (Padj = 0.0018) and RPS6KA3 (Padj = 0.061) were the leading genes for the associations with overall breast cancer risk and ER- breast cancer risk, respectively. rs190843378 in PRKAG3 was statistically significant after gene-level adjustment for multiple comparisons (OR = 0.50 for each T allele, 95% CI = 0.38-0.66, Padj = 3.6E-05), with a statistical power of 0.914. 28582508

2017

dbSNP: rs200847762
rs200847762
0.010 GeneticVariation BEFREE In stratification analyses, we found that the protective effect of rs200847762 was stronger in ER-positive breast cancer (OR = 0.18, 95% CI = 0.06-0.42) than that in ER-negative one (OR = 0.59, 95% CI = 0.31-1.05). 27479355

2017

dbSNP: rs6796502
rs6796502
0.010 GeneticVariation BEFREE The remaining two gene-environment interactions were also identified in relation to ER- breast cancer risk and were found between 3p21-rs6796502 and age at menarche (OR<sub>int</sub>  = 1.26, 95% CI: 1.12-1.43, p<sub>int</sub> =1.8 × 10<sup>-4</sup> ) and between 8q23-rs13267382 and age at first full-term pregnancy (OR<sub>int</sub>  = 0.89, 95% CI: 0.83-0.95, p<sub>int</sub>  = 5.2 × 10<sup>-4</sup> ). 28670784

2017

dbSNP: rs10069690
rs10069690
0.010 GeneticVariation BEFREE In addition, we confirmed SNP rs10069690 was the best indicator for ER-negative breast cancer at 5p15.33 (OR = 1.30; P = 2.4 × 10 − 10) and identified rs12998806 as the best indicator for ER-positive breast cancer at 2q35 (OR = 1.34; P = 2.2 × 10 − 8) for women of African ancestry. 28171663

2016

dbSNP: rs10822013
rs10822013
0.010 GeneticVariation BEFREE When stratified based on breast cancer subtype, our analyses revealed that three SNPs (rs981782, rs10759243 and rs704010) correlated with ER+ breast cancer, while another three (rs4973768, rs1432679 and rs10822013) correlated with ER- breast cancer. 27863437

2016

dbSNP: rs142697907
rs142697907
0.010 GeneticVariation BEFREE Gene-based analyses revealed that CDH1 was responsible for the pathway association (P < 0.01), with rs4783673 in CDH1 statistically significant after gene-level adjustment for multiple comparisons (P = 9.2×10(-5), corrected P = 0.02). rs142697907 in PTPN14 was associated with ER-positive breast cancer and rs2456773 in CDK1 with ER-negativity in case-only analysis after gene-level correction for multiple comparisons (corrected P < 0.05). 27485598

2016

dbSNP: rs1432679
rs1432679
0.010 GeneticVariation BEFREE When stratified based on breast cancer subtype, our analyses revealed that three SNPs (rs981782, rs10759243 and rs704010) correlated with ER+ breast cancer, while another three (rs4973768, rs1432679 and rs10822013) correlated with ER- breast cancer. 27863437

2016

dbSNP: rs2456773
rs2456773
0.010 GeneticVariation BEFREE Gene-based analyses revealed that CDH1 was responsible for the pathway association (P < 0.01), with rs4783673 in CDH1 statistically significant after gene-level adjustment for multiple comparisons (P = 9.2×10(-5), corrected P = 0.02). rs142697907 in PTPN14 was associated with ER-positive breast cancer and rs2456773 in CDK1 with ER-negativity in case-only analysis after gene-level correction for multiple comparisons (corrected P < 0.05). 27485598

2016

dbSNP: rs4783673
rs4783673
0.010 GeneticVariation BEFREE Gene-based analyses revealed that CDH1 was responsible for the pathway association (P < 0.01), with rs4783673 in CDH1 statistically significant after gene-level adjustment for multiple comparisons (P = 9.2×10(-5), corrected P = 0.02). rs142697907 in PTPN14 was associated with ER-positive breast cancer and rs2456773 in CDK1 with ER-negativity in case-only analysis after gene-level correction for multiple comparisons (corrected P < 0.05). 27485598

2016

dbSNP: rs4973768
rs4973768
0.010 GeneticVariation BEFREE When stratified based on breast cancer subtype, our analyses revealed that three SNPs (rs981782, rs10759243 and rs704010) correlated with ER+ breast cancer, while another three (rs4973768, rs1432679 and rs10822013) correlated with ER- breast cancer. 27863437

2016

dbSNP: rs704010
rs704010
0.010 GeneticVariation BEFREE When stratified based on breast cancer subtype, our analyses revealed that three SNPs (rs981782, rs10759243 and rs704010) correlated with ER+ breast cancer, while another three (rs4973768, rs1432679 and rs10822013) correlated with ER- breast cancer. 27863437

2016

dbSNP: rs981782
rs981782
0.010 GeneticVariation BEFREE When stratified based on breast cancer subtype, our analyses revealed that three SNPs (rs981782, rs10759243 and rs704010) correlated with ER+ breast cancer, while another three (rs4973768, rs1432679 and rs10822013) correlated with ER- breast cancer. 27863437

2016

dbSNP: rs370815401
rs370815401
0.010 GeneticVariation BEFREE This descriptive study examines correlations between concentrations of tamoxifen's glucuronide metabolites and genotypes UGT1A4 Pro24Thr, UGT1A4 Leu48Val, UGT2B7 His268Tyr, UGT2B15 Asp85YTyr UGT2B15 Lys523Thr and UGT2B17del in 132 patients with estrogen receptor-positive breast cancer under treatment with tamoxifen. 26176234

2015

dbSNP: rs4148269
rs4148269
0.010 GeneticVariation BEFREE This descriptive study examines correlations between concentrations of tamoxifen's glucuronide metabolites and genotypes UGT1A4 Pro24Thr, UGT1A4 Leu48Val, UGT2B7 His268Tyr, UGT2B15 Asp85YTyr UGT2B15 Lys523Thr and UGT2B17del in 132 patients with estrogen receptor-positive breast cancer under treatment with tamoxifen. 26176234

2015

dbSNP: rs2016347
rs2016347
0.010 GeneticVariation BEFREE We provide the first evidence for IGF1R_rs2016347 as an independent prognostic marker for ER+ breast cancer patients treated with TAM and support a rational for combined treatment strategies. 23459444

2014

dbSNP: rs4849887
rs4849887
0.010 GeneticVariation BEFREE Statistically significant differences were detected with the association of rs6828523 (4q34.1/ADAM29) with ER-positive breast cancer (P = 1.27 × 10(-3)) and the association of rs4849887 (2q14.2) with PR-positive breast cancer (P = 1.29 × 10(-3)). 25007960

2014

dbSNP: rs6828523
rs6828523
0.010 GeneticVariation BEFREE Statistically significant differences were detected with the association of rs6828523 (4q34.1/ADAM29) with ER-positive breast cancer (P = 1.27 × 10(-3)) and the association of rs4849887 (2q14.2) with PR-positive breast cancer (P = 1.29 × 10(-3)). 25007960

2014

dbSNP: rs2051579
rs2051579
0.010 GeneticVariation BEFREE Our findings show a suggestively stronger association between FGFR2 rs2981582 and ER-positive breast cancer risk and suggest a greater association of FGF1 rs250108 and RBFOX2 rs2051579 with ER-negative compared to ER-positive breast cancer. 23143756

2013

dbSNP: rs250108
rs250108
0.010 GeneticVariation BEFREE Our findings show a suggestively stronger association between FGFR2 rs2981582 and ER-positive breast cancer risk and suggest a greater association of FGF1 rs250108 and RBFOX2 rs2051579 with ER-negative compared to ER-positive breast cancer. 23143756

2013

dbSNP: rs2981582
rs2981582
0.010 GeneticVariation BEFREE Our findings show a suggestively stronger association between FGFR2 rs2981582 and ER-positive breast cancer risk and suggest a greater association of FGF1 rs250108 and RBFOX2 rs2051579 with ER-negative compared to ER-positive breast cancer. 23143756

2013

dbSNP: rs6788895
rs6788895
0.010 GeneticVariation BEFREE Although none of the SNPs showed an overall association with breast cancer, an analysis of the ER status of the breast cancer patients revealed that the SIAH2 locus (rs6788895; P = 5.73×10(-4), odds ratio [OR] = 0.81) is associated with ER-positive breast cancer. 24244489

2013

dbSNP: rs10771399
rs10771399
0.010 GeneticVariation BEFREE We identified three new breast cancer risk loci at 12p11 (rs10771399; P = 2.7 × 10(-35)), 12q24 (rs1292011; P = 4.3 × 10(-19)) and 21q21 (rs2823093; P = 1.1 × 10(-12)). rs10771399 was associated with similar relative risks for both estrogen receptor (ER)-negative and ER-positive breast cancer, whereas the other two loci were associated only with ER-positive disease. 22267197

2012

dbSNP: rs1292011
rs1292011
0.010 GeneticVariation BEFREE We identified three new breast cancer risk loci at 12p11 (rs10771399; P = 2.7 × 10(-35)), 12q24 (rs1292011; P = 4.3 × 10(-19)) and 21q21 (rs2823093; P = 1.1 × 10(-12)). rs10771399 was associated with similar relative risks for both estrogen receptor (ER)-negative and ER-positive breast cancer, whereas the other two loci were associated only with ER-positive disease. 22267197

2012