Featured publications

• Germline mutations in WNK2 could be associated with serrated polyposis syndrome

  Soares de Lima, Yasmin; Arnau-Collell, Coral; Munoz, Jenifer; Herrera-Pariente, Cristina; Moreira, Leticia;

  (...)

  Ruiz-Ponte, Clara; Valle, Laura; Balaguer, Francesc; Bonjoch, Laia; Castellvi-Bel, Sergi.

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  Reference:

  Journal Of Medical Genetics 2023.

• 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.

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  Reference:

  Gastroenterology 2023.

• Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries

  Fernandez-Rozadilla, Ceres; Timofeeva, Maria; Chen, Zhishan; Law, Philip; Thomas, Minta;

  (...)

  Tomlinson, Ian; Zheng, Wei; Dunlop, Malcolm; Houlston, Richard; Peters, Ulrike.

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  Reference:

  Nature Genetics 2023.

• Evaluating the Potential of Polygenic Risk Score to Improve Colorectal Cancer Screening

  Arnau-Collell, Coral; Diez-Villanueva, Anna; Bellosillo, Beatriz; Auge, Josep M; Auge, Josep M;

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  Castells, Antoni; Borras, Josep M; Borras, Josep M; Moreno, Victor; Castellvi-Bel, Sergi.

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  Reference:

  Cancer Epidemiology Biomarkers & Prevention 2022.

• 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.

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  Reference:

  Journal Of Medical Genetics 2020.

• 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.

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  Reference:

  Jci Insight 2020.

• Germline Mutations in FAF1 Are Associated With Hereditary Colorectal Cancer

  Bonjoch, Laia; Franch-Exposito, Sebastia; Garre, Pilar; Belhadj, Sami; Munoz, Jenifer;

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  Capella, Gabriel; Balaguer, Francesc; Caldes, Trinidad; Valle, Laura; Castellvi-Bel, Sergi.

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  Reference:

  Gastroenterology 2020.

• 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.

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  Reference:

  International Journal Of Cancer 2020.

• 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.

• 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.