Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants

Testing for variation in BRCA1 and BRCA2 (commonly referred to as BRCA1/2), has emerged as a standard clinical practice and is helping countless women better understand and manage their heritable risk of breast and ovarian cancer. Yet the increased rate of BRCA1/2 testing has led to an increasing nu...

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Publicado en:Hum Mutat
Main Authors: Cline, Melissa S., Babbi, Giulia, Bonache, Sandra, Cao, Yue, Casadio, Rita, de la Cruz, Xavier, Díez, Orland, Gutiérrez-Enríquez, Sara, Katsonis, Panagiotis, Lai, Carmen, Lichtarge, Olivier, Martelli, Pier Luigi, Mishne, Gilad, Moles-Fernández, Alejandro, Montalban, Gemma, Mooney, Sean D., O’Conner, Robert, Ootes, Lars, Özkan, Selen, Padilla, Natalia, Pagel, Kymberleigh A., Pejaver, Vikas, Radivojac, Predrag, Riera, Casandra, Savojardo, Castrense, Shen, Yang, Sun, Yuanfei, Topper, Scott, Parsons, Michael T., Spurdle, Amanda B., Goldgar, David E.
Formato: Artigo
Idioma:Inglês
Publicado: 2019
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6744348/
https://ncbi.nlm.nih.gov/pubmed/31294896
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23861
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