Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs796065354
rs796065354
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
G 0.760 SusceptibilityMutation CLINVAR A population-based case-control study was conducted in 150 newly diagnosed invasive breast cancer and 147 healthy control individuals controls to screen for presence of the ER-α A908G mutation by using single-strand conformation polymorphism (SSCP) analysis and 33Pcycle DNA sequencing. 23236557

2013

dbSNP: rs796065354
rs796065354
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
G 0.760 SusceptibilityMutation CLINVAR There was also the suggestion that longer duration of oral contraceptive (OC) use (OR = 3.73, 95% CI = 1.16 to 12.03; Ptrend = 0.02 for use of more than 10 years) and recent use of OCs (OR = 3.63, 95% CI = 0.80 to 16.45; Ptrend = 0.10 for use within 10 years) were associated with ESR1 A908G mutation-positive breast cancer; however, ORs for comparison of the two case subgroups were not statistically significant. 17553133

2007

dbSNP: rs796065354
rs796065354
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
G 0.760 SusceptibilityMutation CLINVAR Here, we have optimized the detection of a somatic mutation, an A908G transition of ERalpha, and examined its association with clinical and biological features of invasive breast cancer. 17545528

2007

dbSNP: rs796065354
rs796065354
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
G 0.760 SusceptibilityMutation CLINVAR 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

dbSNP: rs796065354
rs796065354
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
G 0.760 SusceptibilityMutation CLINVAR A hypersensitive estrogen receptor-alpha mutation in premalignant breast lesions. 10945602

2000