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  1. 1
    High prevalence of constitutional BRCA1 epimutation in patients with early-onset triple-negative breast cancer

    High prevalence of constitutional BRCA1 epimutation in patients with early-onset triple-negative breast cancer by Mathias Schwartz, Sabrina Ibadioune, Hélène Delhomelle, Solenn Barraud, Sandrine M. Caputo, Olfa Trabelsi-Grati, Marie-Charlotte Villy, Anthony Laugé, Roseline Tang, Etienne Rouleau, Emmanuelle Mouret-Fourme, Dominique Stoppa-Lyonnet, Éric Pasmant, Lisa Golmard, Chrystelle Colas, Ivan Bièche

    Published 2025-06-01
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  2. 2
    A founder BRCA1 exonic duplication involving breakpoint in T2T reference genome-specific region results in constitutional fusion transcript

    A founder BRCA1 exonic duplication involving breakpoint in T2T reference genome-specific region results in constitutional fusion transcript by Mathias Schwartz, Mathilde Filser, Kevin Merchadou, Elisa Lemaitre, Khadija Abidallah, Henrique Tenreiro, Catherine Dubois D’enghien, Audrey Rapinat, Elise Pierre-Noel, Voreak Suybeng, Marion Espenel, Sylvain Baulande, Séverine Adams, Audrey Remenieras, Crystal Renaud, Camille Aucouturier, Capucine Delnatte, Céline Garrec, Victor Renault, Lisa Golmard, Emmanuelle Fourme, Julien Masliah-Planchon, Sandrine M. Caputo

    Published 2025-07-01
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