Comprehensive mutation detection of BRCA1/2 genes reveals large genomic rearrangements contribute to hereditary breast and ovarian cancer in Chinese women

BACKGROUND: Mutated BRCA1/2 genes are associated with hereditary breast and ovarian cancer (HBOC). So far most of the identified BRCA1/2 pathogenic variants are single nucleotide variants (SNVs) or insertions/deletions (Indels). However, large genomic rearrangements (LGRs) such as copy number varian...

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Detalhes bibliográficos
Publicado no:BMC Cancer
Main Authors: Cao, Wen-Ming, Zheng, Ya-Bing, Gao, Yun, Ding, Xiao-Wen, Sun, Yan, Huang, Yuan, Lou, Cai-Jin, Pan, Zhi-Wen, Peng, Guang, Wang, Xiao-Jia
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2019
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6555923/
https://ncbi.nlm.nih.gov/pubmed/31174498
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12885-019-5765-3
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