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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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Detalles Bibliográficos
Autores principales:	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:	Online Artículo Texto
Lenguaje:	English
Publicado:	PeerJ Inc. 2016
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4928470/ https://www.ncbi.nlm.nih.gov/pubmed/27375968 http://dx.doi.org/10.7717/peerj.2162

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