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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Bibliographic Details
Main Authors: Hyunseok P. Kang, Jared R. Maguire, Clement S. Chu, Imran S. Haque, Henry Lai, Rebecca Mar-Heyming, Kaylene Ready, Valentina S. Vysotskaia, Eric A. Evans
Format: Article
Language:English
Published: PeerJ Inc. 2016-06-01
Series:PeerJ
Subjects:
Online Access:https://peerj.com/articles/2162.pdf