Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs9340799
rs9340799
0.070 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: rs3778609
rs3778609
0.010 GeneticVariation BEFREE These SNPs were in high LD (r<sup>2</sup> > 0.9) with each other, with the top SNP, rs3778609, associated with breast cancer with an odds ratio (OR) and 95% confidence interval (95% CI) of 0.76 (0.70-0.84). 30642363

2019

dbSNP: rs2881766
rs2881766
0.030 GeneticVariation BEFREE Our study suggests that polymorphisms rs2881766 and rs3020449 in estrogen receptor genes were associated with BC susceptibility as well as clinical features in Chinese women. 30636932

2019

dbSNP: rs200075329
rs200075329
0.010 GeneticVariation BEFREE This study suggests that the ER S118P variant does not affect risk for breast cancer or hormone therapy resistance. 30560461

2019

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: rs3798577
rs3798577
0.060 GeneticVariation BEFREE Patients carrying rs3798577 genotypes had higher risk, while rs1256049 genotype carriers had reduced risk of breast cancer. 29414691

2018

dbSNP: rs762292600
rs762292600
0.020 GeneticVariation BEFREE AKT1 mutations (E17K) have been found in 1.4-8% of breast cancer patients. 29086897

2018

dbSNP: rs760503206
rs760503206
0.010 GeneticVariation BEFREE Surveying a small set of CAFs from breast cancer</span> biopsies, we found that a relatively common single nucleotide polymorphism, which results in the expression of a GPER variant with the amino acid substitution P16L, is associated with the nuclear localization of GPER. 28596490

2017

dbSNP: rs1062577
rs1062577
0.020 GeneticVariation BEFREE rs1062577 A allele is significantly and dramatically associated with the elevated risk and greater stages of breast cancer. 28216037

2017

dbSNP: rs523736
rs523736
0.010 GeneticVariation BEFREE For overall breast cancer risk, three single-nucleotide polymorphisms (SNPs) in miRNA biogenesis genes DROSHA rs78393591 (OR = 0.69, 95 % CI: 0.55-0.88, P = 0.003), ESR1 rs523736 (OR = 0.88, 95 % CI: 0.82-0.95, P = 3.99 × 10(-4)), and ZCCHC11 rs114101502 (OR = 1.33, 95 % CI: 1.11-1.59, P = 0.002), and one SNP in primary miRNA sequence (rs116159732 in miR-6826, OR = 0.74, 95 % CI: 0.63-0.89, P = 0.001) were found to have significant associations in both discovery and validation phases. 27380242

2016

dbSNP: rs3798577
rs3798577
0.060 GeneticVariation BEFREE Polymorphisms in ESR1 (rs3798577) and IL6 (rs1800795 and rs1800797) were evaluated by real-time PCR in 391 breast cancer patients and 79 healthy controls. 27356714

2016

dbSNP: rs1459132456
rs1459132456
0.010 GeneticVariation BEFREE To evaluate the role of this polymorphism as a risk factor for breast cancer in Kurdish patients and to investigate the possible association between Arg194Trp x-ray repair cross-complementing group 1 (XRCC1) gene polymorphisms with clinical and histopathological outcomes of patients with breast cancer. 27279507

2016

dbSNP: rs2228480
rs2228480
0.060 GeneticVariation BEFREE Three SNPs of the ESR1 gene, rs2077647:T>C, rs2228480:G>A and rs3798577:T>C, were not associated with increased BC risk in our overall meta-analysis. 27070141

2016

dbSNP: rs3798577
rs3798577
0.060 GeneticVariation BEFREE The C allele of the rs3798577:T>C variant was associated with decreased BC risk in Asians (OR = 0.828, 95% CI: 0.730-0.939), while Caucasians with this allele were found to experience significantly increased BC risk (OR = 1.551, 95% CI: 1.037-2.321). 27070141

2016

dbSNP: rs2077647
rs2077647
0.030 GeneticVariation BEFREE Rs2228480 had a large protective effect in Caucasians, while rs2077647 was not associated with BC risk. 27070141

2016

dbSNP: rs762292600
rs762292600
0.020 GeneticVariation BEFREE Analysis of TCGA breast cancer data revealed that the mRNA expression, total protein levels, and phosphorylation of various RTKs are decreased in human tumors harboring AKT1(E17K). 27004402

2016

dbSNP: rs2881766
rs2881766
0.030 GeneticVariation BEFREE In the > 13-year-old group, the AA genotype at rs1062577, the GG genotype at rs2881766, and the CC genotype at rs9479118 increased breast cancer susceptibility. 26850117

2016

dbSNP: rs1062577
rs1062577
0.020 GeneticVariation BEFREE These results showed that the ESR1 rs1062577 polymorphism increased breast cancer risk in Han Chinese women, which might be used as a new SNP marker. 26850117

2016

dbSNP: rs9479118
rs9479118
0.010 GeneticVariation BEFREE In the > 13-year-old group, the AA genotype at rs1062577, the GG genotype at rs2881766, and the CC genotype at rs9479118 increased breast cancer susceptibility. 26850117

2016

dbSNP: rs10484919
rs10484919
0.020 GeneticVariation BEFREE After adjusting for age, body mass index, parity, and menopausal status, we found that in our cohort of 865 Malaysian Chinese, three SNPs in the 6q25.1 region near ESR1 (rs2046210, rs12173570, and rs10484919) that were associated with mammographic density, breast cancer risk, or breast size in previous GWAS were significantly associated with both percentage density and absolute dense area. 26677210

2016

dbSNP: rs9340799
rs9340799
0.070 GeneticVariation BEFREE ESR1 rs9340799(XbaI) (T>C) variants CC or TC were associated with reduced breast cancer risk (HR = 0.82,95% CI = 0.67-1.0), and ESR1 rs2077647 (T>C) variants CC or TC was associated with reduced distant recurrence risk (HR = 0.69, 95% CI = 0.53-0.90), both regardless of the treatments. 26590813

2015

dbSNP: rs2077647
rs2077647
0.030 GeneticVariation BEFREE ESR1 rs9340799(XbaI) (T>C) variants CC or TC were associated with reduced breast cancer risk (HR = 0.82,95% CI = 0.67-1.0), and ESR1 rs2077647 (T>C) variants CC or TC was associated with reduced distant recurrence risk (HR = 0.69, 95% CI = 0.53-0.90), both regardless of the treatments. 26590813

2015

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: rs9340799
rs9340799
0.070 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