ESR1, estrogen receptor 1, 2099

N. diseases: 1101; N. variants: 185
Disease: Breast Carcinoma ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1462893414
rs1462893414
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0678222
Disease:
Breast Carcinoma 		0.030 GeneticVariation BEFREE ESR1 A908G mutation-positive breast cancer was significantly associated with a first-degree family history of breast cancer (odds ratio [OR] = 2.69, 95% confidence interval [CI] = 1.15 to 6.28), whereas mutation-negative breast cancer was not. 17553133 2007
dbSNP: rs1462893414
rs1462893414
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0678222
Disease:
Breast Carcinoma 		0.030 GeneticVariation BEFREE The A908G (Lys303-->Arg) change in the gene encoding oestrogen receptor-alpha (ER-alpha) creates a hypersensitivity to oestradiol and would have significant consequences if present in breast carcinoma, especially those treated with endocrine therapy. 15642159 2005
dbSNP: rs1462893414
rs1462893414
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0678222
Disease:
Breast Carcinoma 		0.030 GeneticVariation BEFREE This population-based study, the largest so far to screen for the ER-alpha A908G mutation in breast cancer, confirms the presence of the mutant in invasive breast tumors. 16280033 2005