Design and validation of a next generation sequencing assay for hereditary BRCA1 and BRCA2 mutation testing

Hereditary breast and ovarian cancer syndrome, caused by a germline pathogenic variant in the BRCA1 or BRCA2 (BRCA1/2) genes, is characterized by an increased risk for breast, ovarian, pancreatic and other cancers. Identification of those who have a BRCA1/2 mutation is important so that they can tak...

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Detalhes bibliográficos
Publicado no:PeerJ
Main Authors: Kang, Hyunseok P., Maguire, Jared R., Chu, Clement S., Haque, Imran S., Lai, Henry, Mar-Heyming, Rebecca, Ready, Kaylene, Vysotskaia, Valentina S., Evans, Eric A.
Formato: Artigo
Idioma:Inglês
Publicado em: PeerJ Inc. 2016
Assuntos:
Genetics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4928470/
https://ncbi.nlm.nih.gov/pubmed/27375968
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7717/peerj.2162
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