5' Region Large Genomic Rearrangements in the Gene in French Families: Identification of a Tandem Triplication and Nine Distinct Deletions with Five Recurrent Breakpoints.
Fiche publication
Date publication
juin 2021
Journal
Cancers
Auteurs
Membres identifiés du Cancéropôle Est :
Dr BONNET Céline
Tous les auteurs :
Caputo SM, Telly D, Briaux A, Sesen J, Ceppi M, Bonnet F, Bourdon V, Coulet F, Castera L, Delnatte C, Hardouin A, Mazoyer S, Schultz I, Sevenet N, Uhrhammer N, Bonnet C, Tilkin-Mariamé AF, Houdayer C, Moncoutier V, Andrieu C, French Covar Group Collaborators, Bièche I, Stern MH, Stoppa-Lyonnet D, Lidereau R, Toulas C, Rouleau E
Lien Pubmed
Résumé
Large genomic rearrangements (LGR) in consisting of deletions/duplications of one or several exons have been found throughout the gene with a large proportion occurring in the 5' region from the promoter to exon 2. The aim of this study was to better characterize those LGR in French high-risk breast/ovarian cancer families.
Mots clés
BRCA1 gene, large duplication, large genomic rearrangement, triplication, variant of unknown significance
Référence
Cancers (Basel). 2021 Jun 25;13(13):