Variant: rs796065354

present in Gene: ESR1 present in Chromosome: 6 Position on Chromosome: 151944320 Alleles of this Variant: A/G

rs796065354 in ESR1 gene and Malignant neoplasm of breast PMID 17545528 2007 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.

PMID 23236557 2013 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.

PMID 17553133 2007 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.

PMID 10945602 2000 A hypersensitive estrogen receptor-alpha mutation in premalignant breast lesions.

PMID 16280033 2005 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.