Calibration of pathogenicity due to variant-induced leaky splicing defects by using BRCA2 exon 3 as a model system

BRCA2 is a clinically actionable gene implicated in breast and ovarian cancer predisposition that has become a high priority target for improving the classification of variants of unknown significance (VUS). Amongst all BRCA2 VUS, those causing partial/leaky splicing defects are the most challenging...

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Publicado no:Cancer Res
Main Authors: Tubeuf, Hélène, Caputo, Sandrine M., Sullivan, Teresa, Rondeaux, Julie, Krieger, Sophie, Caux-Moncoutier, Virginie, Hauchard, Julie, Castelain, Gaia, Fiévet, Alice, Meulemans, Laëtitia, Révillion, Françoise, Léoné, Mélanie, Boutry-Kryza, Nadia, Delnatte, Capucine, Guillaud-Bataille, Marine, Cleveland, Linda, Reid, Susan, Southon, Eileen, Soukarieh, Omar, Drouet, Aurélie, Giacomo, Daniela Di, Vezain, Myriam, Bonnet-Dorion, Françoise, Bourdon, Violaine, Larbre, Hélène, Muller, Danièle, Pujol, Pascal, Vaz, Fátima, Audebert-Bellanger, Séverine, Colas, Chrystelle, Venat-Bouvet, Laurence, Solano, Angela R., Stoppa-Lyonnet, Dominique, Houdayer, Claude, Frebourg, Thierry, Gaildrat, Pascaline, Sharan, Shyam K, Martins, Alexandra
Formato: Artigo
Idioma:Inglês
Publicado em: 2020
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7484206/
https://ncbi.nlm.nih.gov/pubmed/32641407
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1158/0008-5472.CAN-20-0895
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