Large genomic rearrangement of BRCA1 and BRCA2 genes in familial breast cancer patients in Korea

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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.
Publisher
SPRINGER
Issue Date
2014-06
Language
English
Article Type
Article
Keywords

HIGH-RISK; OVARIAN-CANCER; MUTATIONS; IDENTIFICATION; DELETIONS; DNA

Citation

FAMILIAL CANCER, v.13, no.2, pp.205 - 211

ISSN
1389-9600
DOI
10.1007/s10689-014-9704-9
URI
http://hdl.handle.net/10203/189134
Appears in Collection
CBE-Journal Papers(저널논문)
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