Article
Assessment of human Nter and Cter BRCA1 mutations using growth and localization assays in yeast.
Human mutation - 1 Dec 2011
Millot Gaël A, Berger Adeline, Lejour Vincent, Boulé Jean-Baptiste, Bobo Claude, Cullin Christophe, Lopes Judith, Stoppa-Lyonnet Dominique, Nicolas Alain
Abstract excerpt
A large number of missense mutations have been identified within the tumor suppressor gene BRCA1. Most of them, called "variants of unknown significance" (VUS), cannot be classified as pathogenic or neutral by genetic methods, which complicates their cancer risk assessment. Functional assays have been developed to circumvent this uncertainty. They aim to determine how VUS impact the BRCA1 protein structure or...
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