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

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 testing algo...

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Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: Kim, Do-Hoon, Chae, Hyojin, Jo, Irene, Yoo, Jaeeun, Lee, Hyeyoung, Jang, Woori, Park, Joonhong, Lee, Gun Dong, Jeon, Dong-Seok, Lee, Keun Ho, Hur, Soo Young, Chae, Byung Joo, Song, Byung Joo, Kim, Myungshin, Kim, Yonggoo
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2017
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5371242/
https://ncbi.nlm.nih.gov/pubmed/28351343
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-017-0398-3
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