5′ Region Large Genomic Rearrangements in the <em>BRCA1</em> Gene in French Families: Identification of a Tandem Triplication and Nine Distinct Deletions with Five Recurrent Breakpoints

5′ Region Large Genomic Rearrangements in the <em>BRCA1</em> Gene in French Families: Identification of a Tandem Triplication and Nine Distinct Deletions with Five Recurrent Breakpoints

Background: Large genomic rearrangements (LGR) in <i>BRCA1</i> 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...

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Bibliographic Details
Main Authors: Sandrine M. Caputo, Dominique Telly, Adrien Briaux, Julie Sesen, Maurizio Ceppi, Françoise Bonnet, Violaine Bourdon, Florence Coulet, Laurent Castera, Capucine Delnatte, Agnès Hardouin, Sylvie Mazoyer, Inès Schultz, Nicolas Sevenet, Nancy Uhrhammer, Céline Bonnet, Anne-Françoise Tilkin-Mariamé, Claude Houdayer, Virginie Moncoutier, Catherine Andrieu, French COVAR Group Collaborators, Ivan Bièche, Marc-Henri Stern, Dominique Stoppa-Lyonnet, Rosette Lidereau, Christine Toulas, Etienne Rouleau
Format: Article
Language:English
Published: MDPI AG 2021-06-01
Series:Cancers
Subjects:
large genomic rearrangement
<i>BRCA1</i> gene
large duplication
triplication
variant of unknown significance
Online Access:https://www.mdpi.com/2072-6694/13/13/3171

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https://www.mdpi.com/2072-6694/13/13/3171

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