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.
KeywordsBRCA1 BRCA2 Hereditary breast cancer Korean population Large genomic rearrangement
This study was supported by a grant from the Industrial Strategic Technology Development Program funded by the Ministry of Knowledge Economy (#10038662), Republic of Korea, and a Grant (09-364) from the Asan Institute for Life Sciences, Seoul, Korea.
Conflict of interest
The authors have no competing financial interests or conflicts of interest to declare.
- 3.Natioinal Cancer Institute SEER cancer statistics review 1975–2007. http://seer.cancer.gov/csr/1975_2007. Accessed 6 Sep 2010
- 9.Unger MA, Nathanson KL, Calzone K et al (2000) Screening for genomic rearrangements in families with breast and ovarian cancer identifies BRCA1 mutations previously missed by conformation-sensitive gel electrophoresis or sequencing. Am J Hum Genet 67(4):841–850PubMedCentralPubMedCrossRefGoogle Scholar
- 23.Engert S, Wappenschmidt B, Betz B et al (2008) MLPA screening in the BRCA1 gene from 1,506 German hereditary breast cancer cases: novel deletions, frequent involvement of exon 17, and occurrence in single early-onset cases. Hum Mutat 29(7):948–958. doi: 10.1002/humu.20723 PubMedCrossRefGoogle Scholar