Novel Germline Mutations of BRCA1 and BRCA2 in Korean Familial Breast Cancer Patients
- Author:
Hee Nam KIM
1
;
Min Ho SHIN
;
Ran LEE
;
Min Ho PARK
;
Sun Seog KWEON
Author Information
- Publication Type:Original Article
- Keywords: Breast Neoplasms; Mutation; BRCA1 Protein; BRCA2 Protein
- MeSH: BRCA1 Protein; BRCA2 Protein; Breast Neoplasms; Breast; Exons; Female; Genes, BRCA2; Germ-Line Mutation; Humans; Korea; Mutation Rate; Polymorphism, Single Nucleotide
- From:Chonnam Medical Journal 2019;55(2):99-103
- CountryRepublic of Korea
- Language:English
- Abstract: 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.
