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

Content Provider	Europe PMC
Author	Kim, Hee Nam Shin, Min-Ho Lee, Ran Park, Min-Ho Kweon, Sun-Seog
Copyright Year	2019
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.
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ISSN	22337385
Journal	Chonnam Medical Journal [Chonnam Med J]
Volume Number	55
DOI	10.4068/cmj.2019.55.2.99
PubMed Central reference number	PMC6536435
Issue Number	2
PubMed reference number	31161121
e-ISSN	22337393
Language	English
Publisher	Chonnam National University Medical School
Publisher Date	2019-05-23
Access Restriction	Open
Rights License	This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. © Chonnam Medical Journal, 2019
Subject Keyword	Breast Neoplasms Mutation BRCA1 Protein BRCA2 Protein
Content Type	Text
Resource Type	Article
Subject	Medicine