Background: To determine whether a common BRCA1 K1183R polymorphism (3667A > G) affects survival in BRCA1/2-negative Chinese familial breast cancer. We investigated the associations between the BRCA1 E1183R polymorphism and disease-free survival and clinicopathological characteristics in a cohort of 325 Chinese familial breast cancer patients without BRCA1/2 germline mutations.
Methods: K1183R polymorphism was detected by polymerase chain reaction (PCR)-sequencing assay.
Results: Among the 325 Chinese familial breast cancer patients, the frequencies of the genotypes of E1183R polymorphism were 81.5% for wild-type (AA), 14.5% for heterozygote (AG), and 4.0% for variant (GG). No significant association between the genotypes and clinicopathological characteristics was found. There was a trend association that patients with the AA genotype had a better disease-free survival than those with the AG/GG genotype in univariate analysis (p = 0.111), but patients with AA genotype had a significantly better disease-free survival than did patients with AG or GG genotype in the HER2 positive subgroup (p = 0.012).
Conclusions: The present study suggests that the AA genotype of BRCA1 K1183R polymorphism is associated with a favorable survival in HER2 positive familial breast cancer patients.