Article
A multi-institutional study of the prevalence of BRCA1 and BRCA2 large genomic rearrangements in familial breast cancer patients.
BMC cancer - 1 Sept 2014
Seong Moon-Woo, Cho Sung Im, Kim Kyu Hyung, Chung Il Yong, Kang Eunyoung, Lee Jong Won, Park Sue K, Lee Min Hyuk, Choi Doo Ho, Yom Cha Kyong, Noh Woo-Chul, Chang Myung Chul, Park Sung Sup, Kim Sung-Won
Abstract excerpt
BACKGROUND: Large genomic rearrangements (LGRs) in the BRCA1/2 genes are frequently observed in breast cancer patients who are negative for BRCA1/2 small mutations. Here, we examined 221 familial breast cancer patients from 37 hospitals to estimate the contribution of LGRs, in a nationwide context, to the development of breast cancer. METHODS: Direct sequencing or mutation scanning followed by direct sequencing...
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