Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
1.000 GeneticVariation disease BEFREE Rs2046210/6q25.1 increased breast cancer risk via an additive model [per-allele odds ratio (OR) = 1.43, 95 % confidence interval (CI) = 1.26-1.62], and was associated with estrogen receptor (ER)-positive (per-allele OR = 1.39, 95 % CI = 1.20-1.61) and ER-negative (per-allele OR = 1.55, 95 % CI = 1.28-1.89) disease. 22965832 2012
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
1.000 GeneticVariation disease BEFREE The low level of occurrence of variants suggests that ER variant forms, at least in the coding region, do not contribute generally to the progression of breast cancer. 11004670 2000
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
1.000 GeneticVariation disease BEFREE Breast cancer brain metastases (BM) affect younger women disproportionally, including those lacking estrogen receptor (ER), progesterone receptor, and HER2 (known as triple-negative breast cancer; TNBC). 30796353 2019
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
1.000 GeneticVariation disease BEFREE Specifically, ER variants might play a role in Tamoxifen resistance in breast cancer patients, as well as the development of endometrial carcinoma, an estrogen-dependent tumor, in patients taking this medication. 9103405 1997
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
1.000 GeneticVariation disease BEFREE In this issue of Cell Reports, Li et al. show that the analysis of genetic changes in patient-derived xenografts can reveal crucial details of tumor evolution, such as the emergence of functional estrogen receptor mutations in endocrine-resistant breast cancer. 24075202 2013
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
1.000 GeneticVariation disease BEFREE In conclusion, our findings suggest that the combined genotypes of CDK7 and ESR1 are associated with breast cancer risk among Korean women. 19941161 2010
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
1.000 GeneticVariation disease BEFREE The estrogen receptor-alpha S118P variant does not affect breast cancer incidence or response to endocrine therapies. 30560461 2019
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
1.000 GeneticVariation disease BEFREE SCMs use a mixture of Gaussian distributions based on sets of genes with expression specifically correlated with three key breast cancer genes (estrogen receptor [ER], HER2, and aurora kinase A [AURKA]). 22262870 2012
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
1.000 GeneticVariation disease BEFREE Overexpression of mitogen-activated protein kinase superfamily proteins unrelated to Ras and AF-1 of estrogen receptor alpha mutation in advanced stage human breast cancer. 11156322 2000
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
1.000 GeneticVariation disease BEFREE These findings indicate that the SNPs in P53BP1 and p53 jointly contribute to breast cancer risk, particularly ER (-) or PR (-) breast cancer, and the p53 Arg72Pro polymorphism may serve as a risk modifier. 16314399 2006
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
1.000 GeneticVariation disease BEFREE Banked DNA from tamoxifen-treated individuals with breast cancer from the Marshfield Clinic Personalized Medicine Research Project, a population-based DNA repository, was tested for association between incidence of tamoxifen-associated thromboembolic events (TTE) and single nucleotide polymorphisms encoding the estrogen receptors 1,2 (ESR1, ESR2) or drug metabolism enzymes cytochrome P450 2D6 (CYP2D6) and aromatase (CYP19). 19082882 2009
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
1.000 GeneticVariation disease BEFREE A silent mutation in B-domain of the estrogen receptor-alpha (ER B) change codon 87 (from GCG to GCC) is clinically correlated with frequent spontaneous abortion and familial history of breast cancer among Caucasian patients. 9558715 1998
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
1.000 GeneticVariation disease BEFREE Caveolin-1 (Cav-1) loss-of-function mutations are exclusively associated with estrogen receptor-positive (ER(+)) human breast cancers. 19342371 2009
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
1.000 GeneticVariation disease BEFREE Two polymorphisms (rs2228001 and rs50872) were associated with the risk of breast cancer with negative lymph node involvement. rs1800975 and rs50872 were associated with the risk of ER- and PR- breast cancer, whereas rs11615 was associated with the risk of ER+ and PR+ breast cancer. 27768589 2016
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
1.000 GeneticVariation disease BEFREE In this study, ESR1 mutations in breast cancer were identified utilizing Memorial Sloan Kettering-Integrated Mutation Profiling of Actionable Cancer Targets (MSK-IMPACT), a Food and Drug Administration-approved hybridization capture-based next-generation sequencing assay. 30158597 2019
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
1.000 GeneticVariation disease BEFREE The minor allele at the peak 1 SNP rs2736108 associates with longer telomeres (P = 5.8 × 10(-7)), lower risks for estrogen receptor (ER)-negative (P = 1.0 × 10(-8)) and BRCA1 mutation carrier (P = 1.1 × 10(-5)) breast cancers and altered promoter assay signal. 23535731 2013
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
1.000 GeneticVariation disease BEFREE Here, we describe the generation and characterization of genome-edited T47D and MCF7 breast cancer cell lines with the two most common ESR1 mutations, Y537S and D538G. 28535794 2017
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
1.000 GeneticVariation disease BEFREE The subgroup analysis of mentioned polymorphism declared the significant correlation (p ≤ 0.05) of the positive abortion, regular menstruation, positive human epidermal receptor-2 and positive estrogen receptor with BC susceptibility in CC genotype. 29965793 2018
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
1.000 GeneticVariation disease BEFREE Our results do not support a strong association between common variants in the ESR1 and EGF genes and breast cancer risk, tumour characteristics or survival. 18271972 2008
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
1.000 GeneticVariation disease BEFREE The SNP and CGH array both detected cytogenetic abnormalities commonly found in breast cancer: amplification of chromosomes 11q13-14.1, 17q and 20q containing cyclin D1, BCAS1 and 3 (Breast Cancer Amplified Sequence) and AIB1 (Amplified in Breast cancer) genes; losses at 6q, 9p and X chromosomes, which included ERalpha (Estrogen Receptor alpha) and p16 ( INK4A ) genes. 17899364 2008
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
1.000 GeneticVariation disease BEFREE We earlier identified a lysine to arginine transition at residue 303 (K303R) in estrogen receptor alpha (ERalpha) in invasive breast cancers, which confers resistance to the aromatase inhibitor (AI) anastrozole (Ana) when expressed in MCF-7 breast cancer cells. 20101208 2010
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
1.000 GeneticVariation disease BEFREE The majority of women had Estrogen receptor/Progesterone receptor (ER/PR) positive/Her2neu negative (n = 37; 63%), stage I (n = 32, 54%) or II (n = 19, 32%) breast cancer. 31811486 2019
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
1.000 GeneticVariation disease BEFREE A striking example of management differences pertains to BRCA1 and BRCA2 mutation-positive breast cancers wherein those with BRCA1 mutations are frequently estrogen receptor (ER)-negative in contrast to BRCA2 mutations which are more frequently ER-positive; therein, significant differences exist with respect to anti-estrogen therapy which will be more amenable to BRCA2 versus BRCA1 mutation carriers manifesting breast cancer. 18086271 2008
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
1.000 GeneticVariation disease BEFREE Breast cancers had the highest rate of PIK3CA mutations (34%), which correlated with estrogen receptor + status (P=0.0002). 26067136 2017
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
1.000 GeneticVariation disease BEFREE Various types of ER variants have been found in breast cancer biopsies and breast cancer cell lines. 1362141 1992