Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes

A large fraction of sequence variants of unknown significance (VUS) of the breast and ovarian cancer susceptibility genes BRCA1 and BRCA2 may induce splicing defects. We analyzed 53 VUSs of BRCA1 or BRCA2, detected in consecutive molecular screenings, by using five splicing prediction programs, and...

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Detalhes bibliográficos
Main Authors: Théry, Jean Christophe, Krieger, Sophie, Gaildrat, Pascaline, Révillion, Françoise, Buisine, Marie-Pierre, Killian, Audrey, Duponchel, Christiane, Rousselin, Antoine, Vaur, Dominique, Peyrat, Jean-Philippe, Berthet, Pascaline, Frébourg, Thierry, Martins, Alexandra, Hardouin, Agnès, Tosi, Mario
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2011
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3190263/
https://ncbi.nlm.nih.gov/pubmed/21673748
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.100
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