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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6555923/
https://www.ncbi.nlm.nih.gov/pubmed/31174498
http://dx.doi.org/10.1186/s12885-019-5765-3

Ejemplares similares

Ejemplares similares