Detecting splicing patterns in genes involved in hereditary breast and ovarian cancer

Interpretation of variants of unknown significance (VUS) is a major challenge for laboratories performing molecular diagnosis of hereditary breast and ovarian cancer (HBOC), especially considering that many genes are now known to be involved in this syndrome. One important way these VUS can have a f...

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Publicado no:Eur J Hum Genet
Main Authors: Davy, Grégoire, Rousselin, Antoine, Goardon, Nicolas, Castéra, Laurent, Harter, Valentin, Legros, Angelina, Muller, Etienne, Fouillet, Robin, Brault, Baptiste, Smirnova, Anna S, Lemoine, Fréderic, de la Grange, Pierre, Guillaud-Bataille, Marine, Caux-Moncoutier, Virginie, Houdayer, Claude, Bonnet, Françoise, Blanc-Fournier, Cécile, Gaildrat, Pascaline, Frebourg, Thierry, Martins, Alexandra, Vaur, Dominique, Krieger, Sophie
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5602017/
https://ncbi.nlm.nih.gov/pubmed/28905878
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2017.116
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