Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants

Author:

Houdayer Claude,Caux-Moncoutier Virginie,Krieger Sophie,Barrois Michel,Bonnet Françoise,Bourdon Violaine,Bronner Myriam,Buisson Monique,Coulet Florence,Gaildrat Pascaline,Lefol Cédrick,Léone Mélanie,Mazoyer Sylvie,Muller Danielle,Remenieras Audrey,Révillion Françoise,Rouleau Etienne,Sokolowska Joanna,Vert Jean-Philippe,Lidereau Rosette,Soubrier Florent,Sobol Hagay,Sevenet Nicolas,Bressac-de Paillerets Brigitte,Hardouin Agnès,Tosi Mario,Sinilnikova Olga M.,Stoppa-Lyonnet Dominique

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference42 articles.

1. Unclassified variants identified in BRCA1 exon 11: consequences on splicing;Anczukow;Genes Chromosomes Cancer,2008

2. Inhibition of nonsense-mediated messenger RNA decay in clinical samples facilitates detection of human MSH2 mutations with an in vivo fusion protein assay and conventional techniques;Andreutti-Zaugg;Cancer Res,1997

3. Cold shock induces the insertion of a cryptic exon in the neurofibromatosis type 1 (NF1) mRNA;Ars;Nucleic Acids Res,2000

4. Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene;Bonnet;J Med Genet,2008

5. A new VCAN/versican splice acceptor site mutation in a French Wagner family associated with vascular and inflammatory ocular features;Brezin;Mol Vis

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