Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach

A number of germ-line mutations in the BRCA1 gene confer susceptibility to breast and ovarian cancer. However, it remains difficult to determine whether many single amino-acid (missense) changes in the BRCA1 protein that are frequently detected in the clinical setting are pathologic or not. Here, we...

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Main Authors: Tischkowitz, Marc, Hamel, Nancy, Carvalho, Marcelo A, Birrane, Gabriel, Soni, Aditi, van Beers, Erik H, Joosse, Simon A, Wong, Nora, Novak, David, Quenneville, Louise A, Grist, Scott A, kConFab, Nederlof, Petra M, Goldgar, David E, Tavtigian, Sean V, Monteiro, Alvaro N, Ladias, John AA, Foulkes, William D
格式: Artigo
語言:Inglês
出版: 2008
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC3905962/
https://ncbi.nlm.nih.gov/pubmed/18285836
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2008.13
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