Gene: ESR1 ×
Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2099
Gene Symbol: ESR1
ESR1 		0.500 GeneticVariation group CLINVAR Emergence of constitutively active estrogen receptor-α mutations in pretreated advanced estrogen receptor-positive breast cancer. 24398047 2014
Entrez Id: 2099
Gene Symbol: ESR1
ESR1 		0.500 CausalMutation group CLINVAR Activating ESR1 mutations in hormone-resistant metastatic breast cancer. 24185510 2013
Entrez Id: 2099
Gene Symbol: ESR1
ESR1 		0.500 CausalMutation group CLINVAR We conducted a comprehensive genetic analysis of two independent cohorts of metastatic ER-positive breast tumors and identified mutations in ESR1 affecting the ligand-binding domain (LBD) in 14 of 80 cases. 24185512 2013
Entrez Id: 2099
Gene Symbol: ESR1
ESR1 		0.500 GeneticVariation group CLINVAR We conducted a comprehensive genetic analysis of two independent cohorts of metastatic ER-positive breast tumors and identified mutations in ESR1 affecting the ligand-binding domain (LBD) in 14 of 80 cases. 24185512 2013
Entrez Id: 2099
Gene Symbol: ESR1
ESR1 		0.500 GeneticVariation group CLINVAR Activating ESR1 mutations in hormone-resistant metastatic breast cancer. 24185510 2013