Chonnam Med J.  2019 May;55(2):99-103. 10.4068/cmj.2019.55.2.99.

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

  • 1Department of Preventive Medicine, Chonnam National University Medical School, Hwasun, Korea.
  • 2Department of Surgery, Chonnam National University Medical School, Hwasun, Korea.
  • 3Jeonnam Regional Cancer Center, Chonnam National University Hwasun Hospital, Hwasun, Korea.


Breast cancer is the second most common cancer in Korean women. Germline mutations in the BRCA1 and BRCA2 genes cause hereditary breast cancer and are detected in 15-20% of hereditary breast cancer. We investigated the BRCA1 and BRCA2 mutations in 114 familial breast cancer patients using next-generation sequencing. We confirmed 20 different mutations of BRCA1 and BRCA2 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 BRCA1/2 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.


Breast Neoplasms; Mutation; BRCA1 Protein; BRCA2 Protein
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