Cancer risks for ATM variant heterozygotes.

doi:10.1016/j.gim.2026.102591

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Article

Cancer risks for ATM variant heterozygotes.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2026

Jiao Yue, Goldgar David E, Le Gal Dorothée, Cavaciuti Eve, Beauvallet Juana, Dondon Marie-Gabrielle, Eon-Marchais Séverine, Le Gall Jessica, Dubois d'Enghien Catherine, Delhomelle Hélène, Warcoin Mathilde, Kluna Arjeta, Buecher Bruno, Castéra Laurent, Colas Chrystelle, Crivelli Louise, Cusin Veronica, Garrec Céline, Golmard Lisa, Popovici Cornel, Sevenet Nicolas, Al Saati Ayman, Zattara-Cannoni Hélène, Combes Audrey, Coupier Isabelle, Lemonnier Jérôme, Caron Olivier, Stoppa-Lyonnet Dominique, Andrieu Nadine, Lesueur Fabienne

Abstract excerpt

PURPOSE: Cancer risks of individuals heterozygous for an ATM pathogenic or predicted pathogenic variant (PV/PPV) remain imprecise to guide optimal clinical management. Therefore, we aimed to estimate these risks in different family settings. METHODS: Data were collected on 141 ataxia-telangiectasia families, 398 hereditary breast and ovarian cancer families, and 96 families with a history of pancreatic cancer...

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PMID: 42052916
DOI: 10.1016/j.gim.2026.102591

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