A multi-institutional study of the prevalence of BRCA1 and BRCA2 large genomic rearrangements in familial breast cancer patients

@inproceedings{Seong2014AMS,
  title={A multi-institutional study of the prevalence of BRCA1 and BRCA2 large genomic rearrangements in familial breast cancer patients},
  author={Moon-Woo Seong and Sung Im Cho and Kyu Kim and Il Yong Chung and Eunyoung Kang and Jong Won Lee and Sue Kyung Park and Min Hyuk Lee and Doo Ho Choi and Cha Kyong Yom and Woo-Chul Noh and Myung Chul Chang and Sung Sup Park and Sung-won Kim},
  booktitle={BMC Cancer},
  year={2014}
}
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. Direct sequencing or mutation scanning followed by direct sequencing was performed to screen small mutations. BRCA1/2 small mutation-negative patients were screened for the… CONTINUE READING
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