期刊
FAMILIAL CANCER
卷 13, 期 2, 页码 205-211出版社
SPRINGER
DOI: 10.1007/s10689-014-9704-9
关键词
BRCA1; BRCA2; Hereditary breast cancer; Korean population; Large genomic rearrangement
资金
- Industrial Strategic Technology Development Program - Ministry of Knowledge Economy, Republic of Korea [10038662]
- Asan Institute for Life Sciences, Seoul, Korea [09-364]
- Korea Evaluation Institute of Industrial Technology (KEIT) [10038662] Funding Source: Korea Institute of Science & Technology Information (KISTI), National Science & Technology Information Service (NTIS)
We screened large genomic rearrangements of the BRCA1 and BRCA2 genes in Korean, familial breast cancer patients. Multiplex ligation-dependent probe amplification assay was used to identify BRCA1 and BRCA2 genomic rearrangements in 226 Korean familial breast cancer patients with risk factors for BRCA1 and BRCA2 mutations, who previously tested negative for point mutations in the two genes. We identified only one large deletion (c.4186-1593_4676-1465del) in BRCA1. No large rearrangements were found in BRCA2. Our result indicates that large genomic rearrangement in the BRCA1 and BRCA2 genes does not seem like a major determinant of breast cancer susceptibility in the Korean population. A large-scale study needs to validate our result in Korea.
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