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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 2025-06-01Get full text
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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 2025-07-01Get full text
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Atypical cancer risk profile in carriers of Italian founder BRCA1 variant p.His1673del: Implications for classification and clinical management by Giovanni Innella, Cristina Fortuno, Laura Caleca, Bing‐Jian Feng, Courtney Carroll, Michael T. Parsons, Sara Miccoli, Marco Montagna, Daniele Calistri, Laura Cortesi, Barbara Pasini, Siranoush Manoukian, Daniela Giachino, Laura Matricardi, Maria Cristina Foti, Valentina Zampiga, Claudia Piombino, Elena Barbieri, Francesca Vignolo Lutati, Jacopo Azzolini, Rita Danesi, Valentina Arcangeli, Sandrine M. Caputo, Nadia Boutry‐Kryza, Vincent Goussot, Susan Hiraki, Marcy Richardson, Hereditary Breast/Ovarian Cancer IOV network (HBOC IOVnet), Simona Ferrari, Paolo Radice, Amanda B. Spurdle, Daniela Turchetti
Published 2024-08-01Get full text
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