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Clinical syndromes linked to biallelic germline variants in MCM8 and MCM9

Summary: MCM8 and MCM9 are newly proposed cancer predisposition genes, linked to polyposis and early-onset cancer, in addition to their previously established association with hypogonadism. Given the uncertain range of phenotypic manifestations and unclear cancer risk estimates, this study aimed to...

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Autors principals: Noah C. Helderman, Ting Yang, Claire Palles, Diantha Terlouw, Hailiang Mei, Ruben H.P. Vorderman, Davy Cats, Marcos Díaz-Gay, Marjolijn C.J. Jongmans, Ashwin Ramdien, Irma van de Beek, Thomas F. Eleveld, Andrew Green, Frederik J. Hes, Marry M. van den Heuvel-Eibrink, Annelore Van Der Kelen, Sabine Kliesch, Roland P. Kuiper, Inge M.M. Lakeman, Lisa E.E.L.O. Lashley, Leendert H.J. Looijenga, Manon S. Oud, Johanna Steingröver, Yardena Tenenbaum-Rakover, Carli M. Tops, Frank Tüttelmann, Richarda M. de Voer, Dineke Westra, Margot J. Wyrwoll, Mariano Golubicki, Marina Antelo, Laia Bonjoch, Mariona Terradas, Laura Valle, Ludmil B. Alexandrov, Hans Morreau, Tom van Wezel, Sergi Castellví-Bel, Yael Goldberg, Maartje Nielsen
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2025-10-01
Col·lecció:HGG Advances
Matèries:
MCM8
MCM9
Polyposis
adenomatous polyps
inheritable tumor syndrome
early-onset colorectal cancer
Accés en línia:http://www.sciencedirect.com/science/article/pii/S2666247725000831
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