Gene: ESR1 ×
Source: ALL
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 GWASDB A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11. 22976474 2012
Entrez Id: 2099
Gene Symbol: ESR1
ESR1 		1.000 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 2099
Gene Symbol: ESR1
ESR1 		1.000 GeneticVariation disease UNIPROT
Entrez Id: 2099
Gene Symbol: ESR1
ESR1 		1.000 Biomarker disease MGD
Entrez Id: 2099
Gene Symbol: ESR1
ESR1 		1.000 CausalMutation disease CGI
Entrez Id: 2099
Gene Symbol: ESR1
ESR1 		1.000 GenomicAlterations disease CGI
Entrez Id: 2099
Gene Symbol: ESR1
ESR1 		1.000 Biomarker disease CTD_human 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 Biomarker disease CTD_human Structural and thermodynamic consequences of the replacement of zinc with environmental metals on estrogen receptor α-DNA interactions. 22038807 2012
Entrez Id: 2099
Gene Symbol: ESR1
ESR1 		1.000 Biomarker disease CTD_human Combined deletion of Pten and p53 in mammary epithelium accelerates triple-negative breast cancer with dependency on eEF2K. 25330770 2014
Entrez Id: 2099
Gene Symbol: ESR1
ESR1 		1.000 Biomarker disease CTD_human MCF-7 cells expressing nuclear associated lysyl oxidase-like 2 (LOXL2) exhibit an epithelial-to-mesenchymal transition (EMT) phenotype and are highly invasive in vitro. 24014025 2013
Entrez Id: 2099
Gene Symbol: ESR1
ESR1 		1.000 Biomarker disease CTD_human ESR1 amplification as detected by MLPA is rare in breast cancer, and seems to be associated with high ERα expression, high age, high grade and high proliferation. 21541733 2011
Entrez Id: 2099
Gene Symbol: ESR1
ESR1 		1.000 Biomarker disease CTD_human ESR1 amplification as detected by MLPA is rare in breast cancer, and seems to be associated with high ERα expression, high age, high grade and high proliferation. 20966540 2010
Entrez Id: 2099
Gene Symbol: ESR1
ESR1 		1.000 Biomarker disease CTD_human Correlation of microarray-based breast cancer molecular subtypes and clinical outcomes: implications for treatment optimization. 21501481 2011
Entrez Id: 2099
Gene Symbol: ESR1
ESR1 		1.000 Biomarker disease CTD_human The Possible Impact of Obesity on Androgen, Progesterone and Estrogen Receptors (ERα and ERβ) Gene Expression in Breast Cancer Patients. 22174584 2011
Entrez Id: 2099
Gene Symbol: ESR1
ESR1 		1.000 Biomarker disease CTD_human The novel estrogen receptor-alpha (ER-alpha) variant ER-alpha36 is reported to be functional in the estrogen signaling pathway and is related to tamoxifen resistance in breast cancer. 20104649 2010
Entrez Id: 2099
Gene Symbol: ESR1
ESR1 		1.000 Biomarker disease CTD_human Estrogen Receptor Alpha (ER) is expressed in about 70% of breast cancer and mediates various cellular signaling events including cell cycle. 27580430 2016
Entrez Id: 2099
Gene Symbol: ESR1
ESR1 		1.000 Biomarker disease CTD_human ESR1 ligand-binding domain mutations in hormone-resistant breast cancer. 24185512 2013
Entrez Id: 2099
Gene Symbol: ESR1
ESR1 		1.000 Biomarker disease CTD_human Taken together, these studies suggest that activating mutations in ESR1 are a key mechanism in acquired endocrine resistance in breast cancer therapy. 24185510 2013
Entrez Id: 2099
Gene Symbol: ESR1
ESR1 		1.000 Biomarker disease CTD_human ESR-1 gene overexpression happens frequently in breast cancer, but only a subset of them are high amplified cases correlated to increased response rates in hormonal therapy (tamoxifen). 20458558 2011
Entrez Id: 2099
Gene Symbol: ESR1
ESR1 		1.000 Biomarker disease CTD_human Our results show that breast cancer risk-associated SNPs are enriched in the cistromes of FOXA1 and ESR1 and the epigenome of histone H3 lysine 4 monomethylation (H3K4me1) in a cancer- and cell type-specific manner. 23001124 2012
Entrez Id: 2099
Gene Symbol: ESR1
ESR1 		1.000 SusceptibilityMutation disease CLINVAR Association of estrogen receptor-α A908G (K303R) mutation with breast cancer risk. 23236557 2013
Entrez Id: 2099
Gene Symbol: ESR1
ESR1 		1.000 SusceptibilityMutation disease CLINVAR Risk factors for breast cancer characterized by the estrogen receptor alpha A908G (K303R) mutation. 17553133 2007
Entrez Id: 2099
Gene Symbol: ESR1
ESR1 		1.000 SusceptibilityMutation disease CLINVAR The estrogen receptor-alpha A908G (K303R) mutation occurs at a low frequency in invasive breast tumors: results from a population-based study. 16280033 2005
Entrez Id: 2099
Gene Symbol: ESR1
ESR1 		1.000 SusceptibilityMutation disease CLINVAR A hypersensitive estrogen receptor-alpha mutation in premalignant breast lesions. 10945602 2000
Entrez Id: 2099
Gene Symbol: ESR1
ESR1 		1.000 SusceptibilityMutation disease CLINVAR Association between the estrogen receptor alpha A908G mutation and outcomes in invasive breast cancer. 17545528 2007