Article
Deciphering dual clinical entities associated with TP53 pathogenic variants: Insights from 53,085 HBOC panel analyses in French laboratories.
International journal of cancer - 1 Sept 2025
Kasper Edwige, Boulouard Flavie, Basset Noémie, Golmard Lisa, Sassi Hela, Bouvignies Emilie, Branchaud Maud, Charbonnier Camille, Parodi Nathalie, Rolain Marion, Albuisson Juliette, Al Saati Ayman, Benusiglio Patrick, Berthet Pascaline, Bidart Marie, Bonnet Céline, Bouras Ahmed, Boutry-Kryza Nadia, Brayotel Fanny, Bubien Virginie, Buisson Adrien, Castéra Laurent, Caron Olivier, Colas Chrystelle, Coulet Florence, Delnatte Capucine, Derangère Valentin, Fievet Alice, Garrec Céline, Gauthier-Villars Marion, Gay-Bellile Mathilde, Goussot Vincent, le Gall Jessica, Lepage Mathis, Lokchine Anna, Perrier Alexandre, Rouleau Etienne, Sevenet Nicolas, Stoppa-Lyonnet Dominique, Ravel Jean-Marie, Perre Pierre Vande, Vaur Dominique, Vilquin Paul, Bougeard Gaëlle, Baert-Desurmont Stéphanie, Thery Jean-Christophe, Houdayer Claude
Abstract excerpt
TP53 is included in most cancer predisposition multigene panels, especially those exploring Hereditary Breast and Ovarian Cancer (HBOC) predisposition. The purpose of this study was to define the contribution of TP53 pathogenic variants (PV) to the HBOC phenotype by collecting genotypes and phenotypes of 398 patients harboring a TP53 variant identified by 53,085 HBOC panel sequencing in 15 French laboratories....
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