Identification of large genomic rearrangement of BRCA1/2 in high risk patients in Korea

• Main Authors: Do-Hoon Kim (Author), Hyojin Chae (Author), Irene Jo (Author), Jaeeun Yoo (Author), Hyeyoung Lee (Author), Woori Jang (Author), Joonhong Park (Author), Gun Dong Lee (Author), Dong-Seok Jeon (Author), Keun Ho Lee (Author), Soo Young Hur (Author), Byung Joo Chae (Author), Byung Joo Song (Author), Myungshin Kim (Author), Yonggoo Kim (Author)
• Format: Book
• Published: BMC, 2017-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background While the majority of germline inactivating mutations in BRCA1/2 are small-scale mutations, large genomic rearrangements (LGRs) are also detected in a variable proportion of patients. However, routine genetic methods are incapable of detecting LGRs, and comprehensive genetic test...