5' Region Large Genomic Rearrangements in the Gene in French Families: Identification of a Tandem Triplication and Nine Distinct Deletions with Five Recurrent Breakpoints.

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

https://www.ncbi.nlm.nih.gov/pubmed/34202044

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):