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CTNND1 is involved in germline predisposition to early-onset gastric cancer by affecting cell-to-cell interactions.
Herrera-Pariente C, Bonjoch L, Muñoz J, Fernàndez G, Soares de Lima Y, Mahmood R, Cuatrecasas M, Ocaña T, Lopez-Prades S, Llargués-Sistac G, Domínguez-Rovira X, Llach J, Luzko I, Díaz-Gay M, Lazaro C, Brunet J, Castillo-Manzano C, García-González MA, Lanas A, Carrillo M, Hernández San Gil R, Quintero E, Sala N, Llort G, Aguilera L, Carot L, Diez-Redondo P, Jover R, Ramon Y Cajal T, Cubiella J, Castells A, Balaguer F, Bujanda L, Castellví-Bel S, Moreira L. Herrera-Pariente C, et al. Gastric Cancer. 2024 Jul;27(4):747-759. doi: 10.1007/s10120-024-01504-7. Epub 2024 May 25. Gastric Cancer. 2024. PMID: 38796558 Free PMC article.
Germline structural variant as the cause of Lynch Syndrome in a family from Ecuador.
Llargués-Sistac G, Bonjoch L, Muñoz J, Domínguez-Rovira X, Ocaña T, Alvarez-Mora MI, Badenas C, Esteve-Codina A, Reyes-Silva C, Jaramillo-Koupermann G, Rodrigo MT, López-Prades S, Cuatrecasas M, Castells A, Balaguer F, Moreira L, Fernandez G, Castellví-Bel S. Llargués-Sistac G, et al. NPJ Genom Med. 2025 Jan 17;10(1):3. doi: 10.1038/s41525-025-00462-y. NPJ Genom Med. 2025. PMID: 39821083 Free PMC article.
Germline pathogenic variants in HIC1 DNA binding domains are associated with familial serrated polyposis syndrome.
Domínguez-Rovira X, Arnau-Collell C, Gonfaus-Ortiz G, Llargués-Sistac G, Muñoz J, Llopis A, Soares de Lima Y, Herrera-Pariente C, Moreira L, Ocaña T, Díaz-Gay M, Cuatrecasas M, Carballal S, López-Novo A, Fernàndez G, Castells A, Bujanda L, Capellà G, Cubiella J, Rodríguez-Alcalde D, Valle L, Balaguer F, Ruiz-Ponte C, Bonjoch L, Castellví-Bel S. Domínguez-Rovira X, et al. Int J Cancer. 2025 May 30. doi: 10.1002/ijc.35492. Online ahead of print. Int J Cancer. 2025. PMID: 40444741