Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using BRCA2 Exon 3 as a Model System.

doi:10.1158/0008-5472.CAN-20-0895

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Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using BRCA2 Exon 3 as a Model System.

Cancer research - 1 Sept 2020

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, Di Giacomo Daniela, 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

Abstract excerpt

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). Among all BRCA2 VUS, those causing partial/leaky splicing defects are the most challenging to classify because the minimal level of full-length (FL) transcripts required for normal function remains to be...

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PMID: 32641407
DOI: 10.1158/0008-5472.CAN-20-0895
PMCID: PMC7484206

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