Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs796065354
rs796065354
0.080 GeneticVariation BEFREE No hypersensitive estrogen receptor-alpha mutation (K303R) in Japanese breast carcinomas. 15026626

2004

dbSNP: rs796065354
rs796065354
0.080 GeneticVariation BEFREE The A908G (Lys303-->Arg) change in the gene encoding oestrogen receptor-alpha (ER-alpha) creates a hypersensitivity to oestradiol and would have significant consequences if present in breast carcinoma, especially those treated with endocrine therapy. 15642159

2005

dbSNP: rs796065354
rs796065354
0.080 GeneticVariation BEFREE This population-based study, the largest so far to screen for the ER-alpha A908G mutation in breast cancer, confirms the presence of the mutant in invasive breast tumors. 16280033

2005

dbSNP: rs1462893414
rs1462893414
0.030 GeneticVariation BEFREE The A908G (Lys303-->Arg) change in the gene encoding oestrogen receptor-alpha (ER-alpha) creates a hypersensitivity to oestradiol and would have significant consequences if present in breast carcinoma, especially those treated with endocrine therapy. 15642159

2005

dbSNP: rs1462893414
rs1462893414
0.030 GeneticVariation BEFREE This population-based study, the largest so far to screen for the ER-alpha A908G mutation in breast cancer, confirms the presence of the mutant in invasive breast tumors. 16280033

2005

dbSNP: rs188957694
rs188957694
0.010 GeneticVariation BEFREE The majority of spontaneous and DMBA-induced carcinomas and sarcomas from p53(R270H/+)WAPCre mice is estrogen receptor alpha positive, and expression profiles of genes also implicated in human breast cancer appear similarly altered. 16166291

2005

dbSNP: rs200960801
rs200960801
0.010 GeneticVariation BEFREE We investigated three common ESR2 polymorphisms, rs1256049 (G1082A), rs4986938 (G1730A) and rs928554 (Cx+56 A-->G) for association to breast cancer risk. 16261413

2005

dbSNP: rs1364963022
rs1364963022
0.010 GeneticVariation BEFREE There was no statistical difference in the C1qA[276A/G] allelic distribution between all subjects with breast cancer and controls. 16465510

2006

dbSNP: rs200282497
rs200282497
0.010 GeneticVariation BEFREE There was no statistical difference in the C1qA[276A/G] allelic distribution between all subjects with breast cancer and controls. 16465510

2006

dbSNP: rs2234693
rs2234693
0.100 GeneticVariation BEFREE In this study, we investigated breast cancer risk associated with genotypes and haplotypes resulting from four ESR1 single nucleotide polymorphisms (SNPs), rs746432, rs2234693, rs9340799, and rs1801132. 17268813

2007

dbSNP: rs796065354
rs796065354
0.080 GeneticVariation BEFREE ESR1 A908G mutation-positive breast cancer was significantly associated with a first-degree family history of breast cancer (odds ratio [OR] = 2.69, 95% confidence interval [CI] = 1.15 to 6.28), whereas mutation-negative breast cancer was not. 17553133

2007

dbSNP: rs9340799
rs9340799
0.070 GeneticVariation BEFREE In this study, we investigated breast cancer risk associated with genotypes and haplotypes resulting from four ESR1 single nucleotide polymorphisms (SNPs), rs746432, rs2234693, rs9340799, and rs1801132. 17268813

2007

dbSNP: rs1801132
rs1801132
0.050 GeneticVariation BEFREE In this study, we investigated breast cancer risk associated with genotypes and haplotypes resulting from four ESR1 single nucleotide polymorphisms (SNPs), rs746432, rs2234693, rs9340799, and rs1801132. 17268813

2007

dbSNP: rs1462893414
rs1462893414
0.030 GeneticVariation BEFREE ESR1 A908G mutation-positive breast cancer was significantly associated with a first-degree family history of breast cancer (odds ratio [OR] = 2.69, 95% confidence interval [CI] = 1.15 to 6.28), whereas mutation-negative breast cancer was not. 17553133

2007

dbSNP: rs201145204
rs201145204
0.010 GeneticVariation BEFREE Among the 378Ser variant allele carriers, the 24Pro/Pro wild-type homozygote was associated with a significantly increased breast cancer risk (adjusted OR=1.81, 95% CI=1.11-2.95), but the subjects having 24Pro/Ser or Ser/Ser variant genotypes had a significantly decreased risk (adjusted OR=0.74, 95% CI=0.56-0.99). 17028982

2007

dbSNP: rs746432
rs746432
0.010 GeneticVariation BEFREE In this study, we investigated breast cancer risk associated with genotypes and haplotypes resulting from four ESR1 single nucleotide polymorphisms (SNPs), rs746432, rs2234693, rs9340799, and rs1801132. 17268813

2007

dbSNP: rs796065354
rs796065354
0.080 GeneticVariation BEFREE Indeed, a breast cancer-associated mutation at K303 (K303R) alters methylation at K302 in vitro and in vivo. 18471979

2008

dbSNP: rs2144025
rs2144025
0.010 GeneticVariation BEFREE A multi-locus analysis of five adjacent tagSNPs suggested a region in ESR1 (between rs3003925 and rs2144025) for association with breast cancer risk (p = 0.001), but the result did not withstand adjustment for multiple comparisons (p = 0.086). 18271972

2008

dbSNP: rs3003925
rs3003925
0.010 GeneticVariation BEFREE A multi-locus analysis of five adjacent tagSNPs suggested a region in ESR1 (between rs3003925 and rs2144025) for association with breast cancer risk (p = 0.001), but the result did not withstand adjustment for multiple comparisons (p = 0.086). 18271972

2008

dbSNP: rs796065354
rs796065354
0.080 GeneticVariation BEFREE Expression of the K303R estrogen receptor-alpha breast cancer mutation induces resistance to an aromatase inhibitor via addiction to the PI3K/Akt kinase pathway. 19487288

2009

dbSNP: rs3798577
rs3798577
0.060 GeneticVariation BEFREE This study provides evidence that polymorphisms CYP17 rs743572, CYP19 rs10046 and ER-alpha rs3798577 are associated with breast cancer risk among Chinese women. 18629629

2009

dbSNP: rs3020314
rs3020314
0.010 GeneticVariation BEFREE SNP rs3020314, tagging a region of ESR1 intron 4, is associated with an increase in breast cancer susceptibility with a dominant mode of action in European populations. 19126777

2009

dbSNP: rs761843408
rs761843408
0.010 GeneticVariation BEFREE In a large multiethnic case-control study, the G/A870 polymorphism conferred no significant risk for breast cancer overall or by stage or estrogen receptor (ER) status. 19287456

2009

dbSNP: rs767863538
rs767863538
0.010 GeneticVariation BEFREE A three-member fingerprint of S100P-correlated genes, consisting of GPRC5A, FXYD3, and PYCARD, conferred poor outcome in multiple breast cancer data sets, irrespective of estrogen receptor status but dependent on tumor size (P < 0.01). 19789341

2009

dbSNP: rs2234693
rs2234693
0.100 GeneticVariation BEFREE This current analysis on 10,300 breast cancer cases and 16,620 controls on rs2234693 showed a borderline significant decreased breast cancer risk for CC and CC/CT carriers (CC vs. TT: OR, 0.92, 95% CI, 0.86-0.99; CC/CT vs. TT: OR, 0.95, 95% CI, 0.89-1.00). 19760036

2010