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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Bibliographische Detailangaben
Hauptverfasser: Whiley, Phillip J., Parsons, Michael T., Leary, Jennifer, Tucker, Kathy, Warwick, Linda, Dopita, Belinda, Thorne, Heather, Lakhani, Sunil R., Goldgar, David E., Brown, Melissa A., Spurdle, Amanda B.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Public Library of Science 2014
Schlagworte:
Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3904950/
https://ncbi.nlm.nih.gov/pubmed/24489791
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0086836
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