Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation.

Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation.

Rare exonic, non-truncating variants in known cancer susceptibility genes such as BRCA1 and BRCA2 are problematic for genetic counseling and clinical management of relevant families. This study used multifactorial likelihood analysis and/or bioinformatically-directed mRNA assays to assess pathogenic...

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Bibliographic Details
Main Authors: Phillip J Whiley, Michael T Parsons, Jennifer Leary, Kathy Tucker, Linda Warwick, Belinda Dopita, Heather Thorne, Sunil R Lakhani, David E Goldgar, Melissa A Brown, Amanda B Spurdle
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2014-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3904950?pdf=render

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http://europepmc.org/articles/PMC3904950?pdf=render

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