Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort

PURPOSE: Genetic testing of individuals often results in identification of genomic variants of unknown significance (VUS). Multiple lines of evidence are used to help determine the clinical significance of these variants. METHODS: We analyzed ~138,000 individuals tested by multigene panel testing (M...

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Detalles Bibliográficos
Autores principales: Li, Hongyan, LaDuca, Holly, Pesaran, Tina, Chao, Elizabeth C., Dolinsky, Jill S., Parsons, Michael, Spurdle, Amanda B., Polley, Eric C., Shimelis, Hermela, Hart, Steven N., Hu, Chunling, Couch, Fergus J., Goldgar, David E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7118020/
https://www.ncbi.nlm.nih.gov/pubmed/31853058
http://dx.doi.org/10.1038/s41436-019-0729-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7118020/
https://www.ncbi.nlm.nih.gov/pubmed/31853058
http://dx.doi.org/10.1038/s41436-019-0729-1

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