Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study

Nearly one-half of BRCA1 and BRCA2 sequence variations are variants of uncertain significance (VUSs) and are candidates for splice alterations for example, by disrupting/creating splice sites. As out-of-frame splicing defects lead to a marked reduction of the level of the mutant mRNA cleared through...

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Hauptverfasser: Caux-Moncoutier, Virginie, Pagès-Berhouet, Sabine, Michaux, Dorothée, Asselain, Bernard, Castéra, Laurent, De Pauw, Antoine, Buecher, Bruno, Gauthier-Villars, Marion, Stoppa-Lyonnet, Dominique, Houdayer, Claude
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group 2009
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2986693/
https://ncbi.nlm.nih.gov/pubmed/19471317
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2009.89
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