Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significance

Determination of the clinical relevance of rare germline variants of uncertain significance (VUSs) in the BRCA2 cancer predisposition gene remains a challenge as a result of limited availability of data for use in classification models. However, laboratory-based functional data derived from validate...

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Detalles Bibliográficos
Autores principales: Richardson, Marcy E., Hu, Chunling, Lee, Kun Y., LaDuca, Holly, Fulk, Kelly, Durda, Kate M., Deckman, Ashley M., Goldgar, David E., Monteiro, Alvaro N.A., Gnanaolivu, Rohan, Hart, Steven N., Polley, Eric C., Chao, Elizabeth, Pesaran, Tina, Couch, Fergus J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8008494/
https://www.ncbi.nlm.nih.gov/pubmed/33609447
http://dx.doi.org/10.1016/j.ajhg.2021.02.005

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8008494/
https://www.ncbi.nlm.nih.gov/pubmed/33609447
http://dx.doi.org/10.1016/j.ajhg.2021.02.005

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