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 In the entire group and in ER- BCs, CD8+ TILs were associated with favorable distant metastasis-free survival (p=0.021, p<0.001, respectively), disease-free survival (p=0.022, p<0.001, respectively) and breast cancer specific survival (BCSS) (p=0.022, p=0.005). 30842152 2019
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
1.000 GeneticVariation disease BEFREE In this study we determined the appropriateness of adding CYP2D6 genotyping to the breast cancer genetic testing options already available in South Africa, which include BRCA mutation screening and transcriptional profiling to assess estrogen receptor (ER) status. 22638694 2012
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
1.000 GeneticVariation disease BEFREE Notably, we also found ESR1 amplification in benign and precancerous breast diseases, suggesting that ESR1 amplification may be a common mechanism in proliferative breast disease and a very early genetic alteration in a large subset of breast cancers. 17417639 2007
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
1.000 GeneticVariation disease BEFREE Our results suggested that the DII scores are positively associated with breast cancer risk in Korean women and that this relationship is more robust in ER+/PR+ tumors. 31430979 2019
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
1.000 GeneticVariation disease BEFREE Estrogen receptor variant messenger RNA lacking exon 4 in estrogen-responsive human breast cancer cell lines. 7916651 1993
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
1.000 GeneticVariation disease BEFREE Odds ratios (ORs) and 95% confidence intervals (95% CIs) for breast cancer risk associated with levels of PBDE congeners were estimated from logistic regression models for all cases and stratified by estrogen receptor (ER) status. 30014897 2018
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
1.000 GeneticVariation disease BEFREE Our data demonstrate that these ESR1, GSTP1, and CYP19 polymorphisms are associated with risk of BC, and the risk haplotype TGGGGTC could help to identify populations with high susceptibility to BC in Chinese women. 27323034 2016
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
1.000 GeneticVariation disease BEFREE Applying the approach to human breast cancer data identified genes that show bimodality within the cancer samples, such as estrogen receptor (ER) and ERBB2, as well as genes that show bimodality between cancer and non-cancer samples, where tumor-associated calcium signal transducer 2 (TACSTD2) is uncovered. 22053771 2011
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
1.000 GeneticVariation disease BEFREE Estrogen is important in breast cancer development and several polymorphic variants in the ESR1 gene have been investigated for association with breast cancer. 16886637 2006
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
1.000 GeneticVariation disease BEFREE Application of the algorithm to breast cancer samples identified prognostic gene signature sets for both estrogen receptor (ER) negative (-) and positive (+) subtypes. 20975711 2010
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
1.000 GeneticVariation disease BEFREE Both ADA and PDA tended to have a positive association with breast cancer with any ER, any PR, or HER2-, but not for HER2+. 28957821 2018
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
1.000 GeneticVariation disease BEFREE We prospectively evaluated SNPs within phase I and phase II tamoxifen (TAM) metabolizing enzymes, and the estrogen receptor gene (ESR1), aiming to identify potential pharmacogenomic ethnicity patterns in an ER-positive BC cohort constituted of Hispanic and Non-Hispanic White (NHW) women in South Texas. 25395315 2014
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
1.000 GeneticVariation disease BEFREE Finally, we provide evidence for the first time that a low-risk variant located at 6q22.33 (rs6569479) is associated with estrogen receptor negative BC in familial cases (OR = 1.33, 95% CI 1.06-1.66; p-value = 0.012). 19856316 2010
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
1.000 GeneticVariation disease BEFREE We will discuss two estrogen receptor (ER) variants that may play a role in breast cancer initiation or progression. 8603051 1996
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
1.000 GeneticVariation disease BEFREE Moreover, there are two breast cancer related genes (the ligand 14 of the chemokine C-X-C motif (CXCL14) and estrogen receptor gene (ER)) selected in the gene set and one of them is never been included in the other data sets. 18678474 2008
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
1.000 GeneticVariation disease BEFREE The patients' ages and estrogen receptor statuses were used to investigate the potential correlations between the different variations of TSLP genotypes and BC risk. 31210014 2019
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
1.000 GeneticVariation disease BEFREE rs2234693 and rs9340799 polymorphisms in the ESR1 gene were not associated with susceptibility for BC. 31786857 2020
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
1.000 GeneticVariation disease BEFREE This report indicated for the first time that associations exist between PSCA SNPs and breast cancer susceptibility in Korean women, particularly those who are pre-menopausal with an estrogen receptor negative tumor status. 22502712 2012
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
1.000 GeneticVariation disease BEFREE The influence of the genetic variant within miRNA-binding site in estrogen receptor alpha gene on the risk of breast cancer in postmenopausal women on hormone replacement therapy. 22012767 2012
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
1.000 GeneticVariation disease BEFREE We examined the association of rs2046210 and its six linkage disequilibrium SNPs with clinicopathological characteristics, prognosis, and gene expression levels of ESR1 and the C6ORFs (C6ORF97:CCDC170, C6ORF211, C6ORF96:RMND1) in 344 breast cancer tissue samples and 253 corresponding samples of adjacent normal tissue. 25370037 2015
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
1.000 GeneticVariation disease BEFREE Replication in larger studies using estrogen receptor (ER)-negative or triple-negative (i.e., ER-, progesterone receptor-, and HER2-negative) cases could therefore be helpful to confirm the association of this locus with breast cancer risk. 27796716 2017
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
1.000 GeneticVariation disease BEFREE A predominance of estrogen receptor (ER)-negative breast cancers in BRCA1 mutation carriers and potential interactions between ERalpha and BRCA1 suggest a link between hormones and BRCA1. 15790432 2005
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
1.000 GeneticVariation disease 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
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
1.000 GeneticVariation disease BEFREE General populations of black women have a higher risk of developing breast cancer negative for both estrogen receptor (ER) and progesterone receptor (PR) in comparison with white counterparts. 31120565 2019
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
1.000 GeneticVariation disease BEFREE The functions of variant ER proteins, either physiological or pathological, remain unclear, although a role(s) for some ER variants in breast tumorigenesis and breast cancer progression would be consistent with the accumulated data. 9449239 1997