BRCA1 germline mutations dominate familial breast cancer patients in Henan China

Background: Gene mutations of BRCA1 gene play a role in breast cancer. These mutations exist racial differences and can be inherited. The aim of the research is to study the relativity of BRCA1 gene germline mutations with familial breast cancer patients in Henan, China. Methods: Comprehensive BRCA1 germline mutation analyses were performed through denaturing high-performance liquid chromatography (DHPLC) in a cohort of 59 breast cancer patients and 122 healthy donors with family history of breast cancer. The mutations detected by DHPLC were further validated by Sanger sequencing. Results: About 52.54% (31/59) of familiar breast cancer patients showed BRCA1 germline mutations, which is higher than other previous reports with Chinese patients. However, the mutation rate was only 5.74% (7/122) in healthy donors with family history of breast cancer, and also all these mutations were in BRCA1 of all these mutations detected in both patients and healthy donors, mutation A3780G in BRCA1 gene was reported for the first time. The mutation hotspots were A3113G and A3780G in BRCA1 at least in this cohort of patients in Henan, China. Conclusions: BRCA1 germline mutations are related most closely to familial breast cancer patients in Henan China.