Novel Germline Mutations of BRCA1 and BRCA2 in Korean Familial Breast Cancer Patients.

Breast cancer is the second most common cancer in Korean women. Germline mutations in the and genes cause hereditary breast cancer and are detected in 15-20% of hereditary breast cancer. We investigated the and mutations in 114 familial breast cancer patients using next-generation sequencing. We confirmed 20 different mutations of and in 25 subjects (21.9%). Two such mutations in eight patients were novel (not reported in any variant database or previous study). Six mutations have been reported as disease-causing mutations in public databases. Seven mutations were found only in a single nucleotide polymorphism database and one mutation has been reported in Korea. The mutation frequency was similar to that of other studies on familial breast cancer patients in the Korean population. Further studies should examine more cases and mutations of whole exons.