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Background  Ethnic variations in breast cancer epidemiology and genetics have necessitated investigation of the spectra of  BRCA1  and  BRCA2  mutations in different populations. Knowledge of  BRCA  mutations in Chinese populations is still largely unknown. We conducted a multi-center study to characterize the spectra of  BRCA  mutations in Chinese breast and ovarian cancer patients from Southern China.    Methodology/Principal Findings  A total of 651 clinically high-risk breast and/or ovarian cancer patients were recruited from the Hong Kong Hereditary Breast Cancer Family Registry from 2007 to 2011. Comprehensive  BRCA1  and  BRCA2  mutation screening was performed using bi-directional sequencing of all coding exons of  BRCA1  and  BRCA2 . Sequencing results were confirmed by in-house developed full high resolution DNA melting (HRM) analysis. Among the 451 probands analyzed, 69 (15.3%) deleterious  BRCA  mutations were identified, comprising 29 in  BRCA1  and 40 in  BRCA2 . The four recurrent  BRCA1  mutations (c.470_471delCT, c.3342_3345delAGAA, c.5406+1_5406+3delGTA and c.981_982delAT) accounted for 34.5% (10/29) of all  BRCA1  mutations in this cohort. The four recurrent  BRCA2  mutations (c.2808_2811delACAA, c.3109C>T, c.7436_7805del370 and c.9097_9098insA) accounted for 40% (16/40) of all  BRCA2  mutations. Haplotype analysis was performed to confirm 1  BRCA1  and 3  BRCA2  mutations are putative founder mutations. Rapid HRM mutation screening for a panel of the founder mutations were developed and validated.    Conclusion  In this study, our findings suggest that  BRCA  mutations account for a substantial proportion of hereditary breast/ovarian cancer in Southern Chinese population. Knowing the spectrum and frequency of the founder mutations in this population will assist in the development of a cost-effective rapid screening assay, which in turn facilitates genetic counseling and testing for the purpose of cancer risk assessment.

Identification of BRCA1/2 Founder Mutations in Southern Chinese Breast Cancer Patients Using Gene Sequencing and High Resolution DNA Melting Analysis