Featured publications

• 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.

  See complete list of authors

  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 C; Timofeeva M; Chen Z; Law P; Thomas M;

  (...)

  Tomlinson I; Zheng W; Dunlop M; Houlston R; Peters U .

  See complete list of authors

  Reference:

  Nature Genetics 2023.

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

  Soares de Lima Y; Arnau-Collell C; Muñoz J; Herrera-Pariente C; Moreira L;

  (...)

  Ruiz-Ponte C; Valle L; Balaguer F; Bonjoch L; Castellvi-Bel S .

  See complete list of authors

  Reference:

  Journal Of Medical Genetics 2023.

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

  Arnau-Collell C; Díez-Villanueva A; Bellosillo B; Augé JM; Muñoz J;

  (...)

  Borras JM; Bessa X; Moreno V; Castellví-Bel S; CRIPREV consortium.

  See complete list of authors

  Reference:

  Cancer Epidemiology Biomarkers & Prevention 2022.

• Colorectal cancer genetic variants are also associated with serrated polyposis syndrome susceptibility

  Arnau-Collell C; Soares de Lima Y; Díaz-Gay M; Muñoz J; Carballal S;

  (...)

  Balaguer F; Ruiz-Ponte C; Valle L; Moreno V; Castellvi-Bel S .

  See complete list of authors

  Reference:

  Journal Of Medical Genetics 2020.

• Germline biallelic MCM8 variants are associated with early-onset Lynch-like syndrome

  Golubicki M; Bonjoch L; Acuña-Ochoa JG; Díaz-Gay M; Muñoz J;

  (...)

  Roca E; Castells A; Balaguer F; Antelo M; Castellví-Bel S .

  See complete list of authors

  Reference:

  Jci Insight 2020.

• Germline Mutations in FAF1 Are Associated With Hereditary Colorectal Cancer

  Bonjoch L; Franch-Expósito S; Garre P; Belhadj S; Muñoz J;

  (...)

  Capellá G; Balaguer F; Caldés T; Valle L; Castellví-Bel S .

  See complete list of authors

  Reference:

  Gastroenterology 2020.

• Using linkage studies combined with whole-exome sequencing to identify novel candidate genes for familial colorectal cancer

  Toma C; Díaz-Gay M; Franch-Expósito S; Arnau-Collell C; Overs B;

  (...)

  Balaguer F; Cubiella J; Caldés T; Fullerton JM; Castellví-Bel S .

  See complete list of authors

  Reference:

  International Journal Of Cancer 2020.

• Approaches to functionally validate candidate genetic variants involved in colorectal cancer predisposition.

  Bonjoch L; Mur P; Arnau-Collell C; Vargas-Parra G; Shamloo B;

  Franch-Expósito S; Pineda M; Capellà G; Erman B; Castellví-Bel S .

  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.