The PCR-PIRA and PCR-RFLP techniques were used for BARD1 genotyping. Correlations between gene polymorphisms and the susceptibility to breast cancer were analyzed by logistic regression analysis.
Results: showed that compared with the wild type of 378 Arg/Arg of BRAD1, the homozygotic type of 378 Ser/Ser with Arg378Ser site mutation had a protective effect (adjusted odds ratio: 0.628, 95% confidence interval: 0.306-1.145). Compared with individuals carrying the wild type of 24Pro/Pro, the disease risk of individuals with the heterozygous type of 24 Pro/Ser decreased by 30.6% and that with the mutational homozygotic type of 24 Ser/Ser decreased by 43.8%. SNP sites rs2229571 and rs1048108 of BARD1 are associated with a lower risk of breast cancer but not rs2070094.
Keywords: BARD1 gene; association analysis; breast cancer susceptibility; nonsynonymous mutation; polymorphism.