The BRCA2 372 HH genotype is associated with risk of breast cancer in Australian women under age 60 years.

摘要: The BRCA2 N372H nonconservative amino acid substitution polymorphism appears to affect fetal survival in a sex-dependent manner, and the HH genotype was found be associated with 1.3-fold risk of breast cancer from pooling five case-control studies Northern European women. We investigated whether Australian women using population-based design. 372 determined 1397 cases under age 60 years at diagnosis first primary 775 population-sampled controls frequency matched for age. Case-control analyses comparisons distributions were conducted logistic regression. All statistical tests two-tailed. independent family history within controls, more common (9.2% versus 6.5%). It an increased cancer, 1.47-fold unadjusted (95% confidence interval, 1.05–2.07; P = 0.02), 1.42-fold 1.00–2.02; 0.05) after adjusting measured factors. This effect still evident excluding any non-Caucasian ancestry or 33 known have inherited mutation BRCA1 , would explain ∼3% cancer. modest recessively result is consistent findings