Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs796065354
rs796065354
G 0.760 SusceptibilityMutation CLINVAR A population-based case-control study was conducted in 150 newly diagnosed invasive breast cancer and 147 healthy control individuals controls to screen for presence of the ER-α A908G mutation by using single-strand conformation polymorphism (SSCP) analysis and 33Pcycle DNA sequencing. 23236557

2013

dbSNP: rs796065354
rs796065354
0.760 GeneticVariation BEFREE Collectively, these data demonstrate an important role for the K303R ERalpha mutation in hormonal regulation of tumor growth and estrogen-regulated promoter dynamics in human breast cancer. 19842032

2010

dbSNP: rs796065354
rs796065354
0.760 GeneticVariation BEFREE Our data suggest that the K303R mutation and the S305 ERalpha residue may be a novel determinant of AI response in breast cancer, and blockade of S305 phosphorylation represents a new therapeutic strategy for treating tumors resistant to hormone therapy. 20101208

2010

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

2008

dbSNP: rs796065354
rs796065354
G 0.760 SusceptibilityMutation CLINVAR Here, we have optimized the detection of a somatic mutation, an A908G transition of ERalpha, and examined its association with clinical and biological features of invasive breast cancer. 17545528

2007

dbSNP: rs796065354
rs796065354
G 0.760 SusceptibilityMutation CLINVAR There was also the suggestion that longer duration of oral contraceptive (OC) use (OR = 3.73, 95% CI = 1.16 to 12.03; Ptrend = 0.02 for use of more than 10 years) and recent use of OCs (OR = 3.63, 95% CI = 0.80 to 16.45; Ptrend = 0.10 for use within 10 years) were associated with ESR1 A908G mutation-positive breast cancer; however, ORs for comparison of the two case subgroups were not statistically significant. 17553133

2007

dbSNP: rs796065354
rs796065354
0.760 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: rs796065354
rs796065354
G 0.760 SusceptibilityMutation CLINVAR 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: rs796065354
rs796065354
0.760 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: rs796065354
rs796065354
G 0.760 SusceptibilityMutation CLINVAR A hypersensitive estrogen receptor-alpha mutation in premalignant breast lesions. 10945602

2000

dbSNP: rs9383938
rs9383938
0.720 GeneticVariation BEFREE Two variants, 6q25.1-rs9383938 and TXNRD2-rs8141691, were statistically significantly associated with percent MD (P = 0.019 and 0.03, respectively), with the 6q25.1-rs9383938 association being consistent with the SNP effect on breast cancer risk. 25002657

2014

dbSNP: rs9383938
rs9383938
T 0.720 GeneticVariation GWASDB A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11. 22976474

2012

dbSNP: rs9383938
rs9383938
0.720 GeneticVariation BEFREE We also identified two variants (rs3734805 and rs9383938) mapping to 6q25.1 estrogen receptor 1 (ESR1), which were associated with breast cancer in subjects of northern European ancestry (rs3734805: OR = 1.19, 95% CI = 1.11 to 1.27, P = 1.35 × 10(-7); rs9383938: OR = 1.18, 95% CI = 1.11 to 1.26, P = 1.41 × 10(-7)). 21263130

2011

dbSNP: rs139960913
rs139960913
0.700 GeneticVariation UNIPROT

dbSNP: rs2234693
rs2234693
0.100 GeneticVariation BEFREE However, the haplogenotypes CTAG and CCGG of rs2234693 and rs9340799 polymorphisms could contribute significantly to the susceptibility of risk in BC positive at miscarriage and tobacco consumption in this sample population. 31786857

2020

dbSNP: rs2234693
rs2234693
0.100 GeneticVariation BEFREE ESR1 rs3798577 and ESR2 rs1256049 were associated with breast cancer in ER-positive cases, and ESR1 rs2234693, and rs3798577 were associated with breast cancer in Her-2-negative cases, while the association of ESR2 rs1256049 with breast cancer was seen in Her-2 positive cases. 29414691

2018

dbSNP: rs2234693
rs2234693
0.100 GeneticVariation BEFREE To investigate the association between PvuII (rs2234693), XbaI (rs9340799) and P325P (rs1801132) polymorphisms of ESR1 gene with the risk of breast cancer under different population categorizations, we searched multiple databases for data collection, and performed the meta-analysis on a total of 25 case-control studies. 26434778

2015

dbSNP: rs2234693
rs2234693
0.100 GeneticVariation BEFREE We examined the association of single nucleotide polymorphism (SNP) in estrogen receptors, ESR1 (rs2234693) and ESR2 (rs2987983); estrogen biosynthesis enzymes, CYP17A1 (rs743572); and aromatase, CYP19A1 (rs700519) with breast cancer risk. 24430361

2014

dbSNP: rs2234693
rs2234693
0.100 GeneticVariation BEFREE The combination of the TC/CC genotypes of ESR1 rs2234693 and passive smoking significantly increased the risk of breast cancer [OR (95%CI): 2.06 (1.39-3.05)] in pre-menopausal women. 23644255

2013

dbSNP: rs2234693
rs2234693
0.100 GeneticVariation BEFREE When all the eligible studies were pooled into the meta-analysis, the higher transcriptional activity variant allele T of ESR1 PvuII (C>T) (rs2234693) in pre-menopausal breast cancer women showed a significant relation to increased risk (OR = 1.13, 95%CI: 1.01-1.28, P = 0.040) in contrast to their post-menopausal counterparts which showed non-significant increased risk (OR = 1.01, 95%CI: 0.87-1.18, P = 0.858). 23244119

2012

dbSNP: rs2234693
rs2234693
0.100 GeneticVariation BEFREE In a case-control study of women from Shanghai, China, we examined the risk of breast cancer and fibrocystic breast conditions associated with the ESR1 PvuII (rs2234693) and XbaI (rs9340799) and AR CAG repeat ((CAG)(n)) and GGC repeat ((GGC)(n)) polymorphisms among 614 women with breast cancer, 467 women with fibrocystic conditions, and 879 women without breast disease. 20846920

2011

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

dbSNP: rs2234693
rs2234693
0.100 GeneticVariation BEFREE The minor G allele of rs1801132 was protective in our cases (p = 1 × 10(-4)); for rs2228480, the heterozygous frequency was higher for cancer groups (p = 0.03); the SNP pairs rs2228480&rs3798577 and rs2234693&rs9340799 were in low LD; the haplotypes T-A of rs2234693&rs9340799 and G-C of rs2228480&rs3798577 showed a trend to be higher represented in breast cancers; T allele of rs2234693 was higher expressed in breast, colon cancers and leukemia; rs2077647 was associated with colon (p = 0.008, C-risk allele) and bladder (p = 0.01, T-risk allele) cancers. 20383761

2010

dbSNP: rs2234693
rs2234693
0.100 GeneticVariation BEFREE Our results showed that rs3798577 was significantly associated with the risk of breast cancer, the common allele C conferring susceptibility (p-trend=4 x 10(-5)); rs3798577 was also correlated with PR expression (p=0.01), but not with ER expression; rs2228480 (p=0.047) and rs1801132 (p=0.02) were associated with the age at diagnosis; rs1801132 was correlated with hypercholesterolemia (p=0.003) and increased BMI (body mass index) (p=0.01); rs2234693 showed a low significant association (p=0.042) with the tumor grade; rs3798577 was correlated with disease-free survival (p=0.05), allele C conferring increased risk for relapses, but it reached not statistical significance after adjustments. 20429621

2010