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KMID : 0880520190550020099
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Chonnam Medical Journal
2019 Volume.55 No. 2 p.99 ~ p.103
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Novel Germline Mutations of BRCA1 and BRCA2 in Korean Familial Breast Cancer Patients
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Kim Hee-Nam
Shin Min-Ho
Lee Ran
Park Min-Ho
Kweon Sun-Seog
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Abstract
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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.
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KEYWORD
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Breast Neoplasms, Mutation, BRCA1 Protein, BRCA2 Protein
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