Genetic predisposition to gastrointestinal cancer
Featured publications
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BMPR2 as a Novel Predisposition Gene for Hereditary Colorectal Polyposis
Bonjoch, L; Fernandez-Rozadilla, C; Alvarez-Barona, M; Lopez-Novo, A; Herrera-Pariente, C;(...)Fernández-Bañares, F; Carracedo, A; Jover, R; Castellvi-Bel, S; Ruiz-Ponte, C.Reference:Gastroenterology 2023.
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Germline mutations in WNK2 could be associated with serrated polyposis syndrome
de Lima, YS; Arnau-Collell, C; Muñoz, J; Herrera-Pariente, C; Moreira, L;(...)Ruiz-Ponte, C; Valle, L; Balaguer, F; Bonjoch, L; Castellvi-Bel, S.Reference:Journal Of Medical Genetics 2023.
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Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries
Fernandez-Rozadilla, C; Timofeeva, M; Chen, ZS; Law, P; Thomas, M;(...)Tomlinson, I; Zheng, W; Dunlop, M; Houlston, R; Peters, U.Reference:Nature Genetics 2023.
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Evaluating the Potential of Polygenic Risk Score to Improve Colorectal Cancer Screening
Arnau-Collell, C; Diez-Villanueva, A; Bellosillo, B; Auge, JM; Munoz, J;(...)Castells, A; Borras, JM; Bessa, X; Moreno, V; Castellvi-Bel, S.Reference:Cancer Epidemiology Biomarkers & Prevention 2022.
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Colorectal cancer genetic variants are also associated with serrated polyposis syndrome susceptibility
Arnau-Collell, Coral; Soares de Lima, Yasmin; Diaz-Gay, Marcos; Munoz, Jenifer; Carballal, Sabela;(...)Balaguer, Francesc; Ruiz-Ponte, Clara; Valle, Laura; Moreno, Victor; Castellvi-Bel, Sergi.Reference:Journal Of Medical Genetics 2020.
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Germline biallelic MCM8 variants are associated with early-onset Lynch-like syndrome
Golubicki, Mariano; Bonjoch, Laia; Acuna-Ochoa, Jose G; Diaz-Gay, Marcos; Munoz, Jenifer;(...)Roca, Enrique; Castells, Antoni; Balaguer, Francesc; Antelo, Marina; Castellvi-Bel, Sergi.Reference:Jci Insight 2020.
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Germline Mutations in FAF1 Are Associated With Hereditary Colorectal Cancer
Bonjoch, Laia; Franch-Exposito, Sebastia; Garre, Pilar; Belhadj, Sami; Munoz, Jenifer;(...)Capella, Gabriel; Balaguer, Francesc; Caldes, Trinidad; Valle, Laura; Castellvi-Bel, Sergi.Reference:Gastroenterology 2020.
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Using linkage studies combined with whole-exome sequencing to identify novel candidate genes for familial colorectal cancer
Toma, Claudio; Diaz-Gay, Marcos; Franch-Exposito, Sebastia; Arnau-Collell, Coral; Overs, Bronwyn;(...)Balaguer, Francesc; Cubiella, Joaquin; Caldes, Trinidad; Fullerton, Janice M; Castellvi-Bel, Sergi.Reference:International Journal Of Cancer 2020.
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Approaches to functionally validate candidate genetic variants involved in colorectal cancer predisposition.
Bonjoch, Laia; Mur, Pilar; Arnau-Collell, Coral; Vargas-Parra, Gardenia; Shamloo, Bahar;Franch-Exposito, Sebastia; Pineda, Marta; Capella, Gabriel; Erman, Batu; Castellvi-Bel, Sergi.Reference:Molecular Aspects Of Medicine 2019.
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Mutational Signatures in Cancer (MuSiCa): a web application to implement mutational signatures analysis in cancer samples
Diaz-Gay, Marcos; Vila-Casadesus, Maria; Franch-Exposito, Sebastia; Hernandez-Illan, Eva; Jose Lozano, Juan;Castellvi-Bel, Sergi.Reference:Bmc Bioinformatics 2018.