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논문 리스트

2019
Novel Germline Mutations of BRCA1 and BRCA2 in Korean Familial Breast Cancer Patients. Novel Germline Mutations of BRCA1 and BRCA2 in Korean Familial Breast Cancer Patients.
전남대학교 의과학연구소
권순석, 박민호, 신민호 외 2명
논문정보
Publisher
전남의대학술지
Issue Date
2019-05-31
Keywords
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Citation
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Source
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Journal Title
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Volume
55
Number
2
Start Page
99
End Page
103
DOI
ISSN
22337385
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.

저자 정보

이름 소속
권순석 의학과
박민호 의학과
신민호 의학과