Probing structure-function relationships in missense variants in the carboxy-terminal region of BRCA1.

Germline inactivating variants in BRCA1 lead to a significantly increased risk of breast and ovarian cancers in carriers. While the functional effect of many variants can be inferred from the DNA sequence, determining the effect of missense variants present a significant challenge. A series of bioch...

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Bibliographic Details
Main Authors: Renato S Carvalho, Renata B V Abreu, Aneliya Velkova, Sylvia Marsillac, Renato S Rodarte, Guilherme Suarez-Kurtz, Edwin S Iversen, Alvaro N A Monteiro, Marcelo A Carvalho
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2014-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC4028255?pdf=render