About me

Group Leader of the “Genetic predisposition to Gastrointestinal Cancer” Group at FRCB-IDIBAPS in Barcelona. During over 30 years, he has worked on human monogenic/hereditary conditions and more recently on complex human diseases such as colorectal cancer, gastric cancer and pancreatic cancer. He was the Chair of COST Actions BM1206 and CA17118 (2013-2022) and recognized as Group Leader at his institution (2015). His research activities have resulted in >200 articles in highly ranked international journals and has attracted a high number of citations (presently 8,203), with an H-index of 48.

Featured publications

  • BMPR2 as a novel predisposition gene for hereditary colorectal polyposis

    Authors: Bonjoch L; Fernandez-Rozadilla C; Alvarez-Barona M; Lopez-Novo A; Herrera-Pariente C; Amigo J; Bujanda L; Remedios D; Dacal A; Cubiella J; Balaguer F; Fernández-Bañares F; Carracedo A; Jover R; Castellvi-Bel S; Ruiz-Ponte C.
    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

    Authors: Fernandez-Rozadilla, C; Timofeeva, M; Chen, ZS; Law, P; Thomas, M; Bien, S; Diez-Obrero, V; Li, L; Fernandez-Tajes, J; Palles, C; Sherwood, K; Harris, S; Svinti, V; McDonnell, K; Farrington, S; Studd, J; Vaughan-Shaw, P; Shu, XO; Long, JR; Cai, QY; Guo, XY; Lu, YC; Scacheri, P; Studd, J; Huyghe, J; Harrison, T; Shibata, D; Haiman, C; Devall, M; Schumacher, F; Melas, M; Rennert, G; Obón-Santacana, M; Martín-Sánchez, V; Moratalla-Navarro, F; Oh, JH; Kim, J; Jee, SH; Jung, KJ; Kweon, SS; Shin, MH; Shin, A; Ahn, YO; Kim, DH; Oze, I; Wen, WQ; Matsuo, K; Matsuda, K; Tanikawa, C; Ren, ZF; Gao, YT; Jia, WH; Potter, J; Jenkins, M; Win, AK; Pai, R; Figueiredo, J; Haile, R; Gallinger, S; Woods, M; Newcomb, P; Shibata, D; Cheadle, J; Kaplan, R; Maughan, T; Kerr, R; Kerr, D; Kirac, I; Böhm, J; Mecklin, LP; Jousilahti, P; Knekt, P; Aaltonen, L; Rissanen, H; Pukkala, E; Eriksson, J; Cajuso, T; Hänninen, U; Kondelin, J; Palin, K; Tanskanen, T; Renkonen-Sinisalo, L; Zanke, B; Männistö, S; Albanes, D; Weinstein, S; Ruiz-Narvaez, E; Palmer, J; Buchanan, D; Platz, E; Visvanathan, K; Ulrich, C; Siegel, E; Brezina, S; Gsur, A; Campbell, P; Chang-Claude, J; Hoffmeister, M; Brenner, H; Slattery, M; Potter, J; Tsilidis, K; Schulze, M; Gunter, M; Murphy, N; Castells, A; Castellví-Bel, S; Moreira, L; Arndt, V; Shcherbina, A; Stern, M; Pardamean, B; Bishop, T; Giles, G; Southey, M; Idos, G; McDonnell, K; Abu-Ful, Z; Greenson, J; Shulman, K; Lejbkowicz, F; Offit, K; Su, YR; Steinfelder, R; Keku, T; van Guelpen, B; Hudson, T; Hampel, H; Pearlman, R; Berndt, S; Houlston, R; Martinez, ME; Thomas, S; Corley, D; Pharoah, P; Larsson, S; Yen, Y; Lenz, HJ; White, E; Li, L; Doheny, K; Pugh, E; Shelford, T; Chan, AD; Cruz-Correa, M; Lindblom, A; Shibata, D; Joshi, A; Schafmayer, C; Scacheri, P; Kundaje, A; Nickerson, D; Schoen, R; Hampe, J; Stadler, Z; Vodicka, P; Vodickova, L; Vymetalkova, V; Papadopoulos, N; Edlund, C; Gauderman, W; Thomas, D; Shibata, D; Toland, A; Markowitz, S; Kim, A; Gruber, S; van Duijnhoven, F; Feskens, E; Sakoda, L; Gago-Dominguez, M; Wolk, A; Naccarati, A; Pardini, B; FitzGerald, L; Lee, SC; Ogino, S; Bien, S; Kooperberg, C; Li, C; Lin, Y; Prentice, R; Qu, CH; Bézieau, S; Tangen, C; Mardis, E; Yamaji, T; Sawada, N; Iwasaki, M; Haiman, C; Le Marchand, L; Wu, A; Qu, CX; McNeil, C; Coetzee, G; Hayward, C; Deary, I; Harris, S; Theodoratou, E; Reid, S; Walker, M; Ooi, L; Moreno, V; Casey, G; Gruber, S; Tomlinson, I; Zheng, W; Dunlop, M; Houlston, R; Peters, U.
    Reference: Nature Genetics 2023.
  • Germline mutations in WNK2 could be associated with serrated polyposis syndrome

    Authors: Soares de Lima Y, Arnau-Collell C, Muñoz J, Herrera-Pariente C, Moreira L, Ocaña T, Díaz-Gay M, Franch-Expósito S, Cuatrecasas M, Carballal S, Lopez-Novo A, Moreno L, Fernàndez G, Díaz de Bustamante A, Peters S, Sommer AK, Spier I, Te Paske IBAW, van Herwaarden YJ, Castells A, Bujanda L, Capellà G, Steinke-Lange V, Mahmood K, Joo JE, Arnold J, Parry S, Macrae FA, Winship IM, Rosty C, Cubiella J, Rodríguez-Alcalde D, Holinski-Feder E, de Voer R, Buchanan DD, Aretz S, Ruiz-Ponte C, Valle L, Balaguer F, Bonjoch L, Castellvi-Bel S .
    Reference: Journal Of Medical Genetics 2023.
  • Evaluating the Potential of Polygenic Risk Score to Improve Colorectal Cancer Screening

    Authors: Arnau-Collell C; Díez-Villanueva A; Bellosillo B; Augé JM; Muñoz J; Guinó E; Moreira L; Serradesanferm A; Pozo A; Tora-Rocamora I; Bonjoch L; Ibañez-Sanz G; Obon-Santacana M; Moratalla-Navarro F; Sanz-Pamplona R; Márquez CM; Miret RR; Berbegal RP; Velasco GP; Rodríguez CH; Grau J; Castells A; Borras JM; Bessa X; Moreno V; Castellví-Bel S; CRIPREV consortium.
    Reference: Cancer Epidemiology Biomarkers & Prevention 2022.
  • Colorectal cancer genetic variants are also associated with serrated polyposis syndrome susceptibility

    Authors: Arnau-Collell, Coral; Soares de Lima, Yasmin; Diaz-Gay, Marcos; Munoz, Jenifer; Carballal, Sabela; Bonjoch, Laia; Moreira, Leticia; Lozano, Juan Jose; Ocana, Teresa; Cuatrecasas, Miriam; Diaz de Bustamante, Aranzazu; Castells, Antoni; Capella, Gabriel; Bujanda, Luis; Cubiella, Joaquin; Rodriguez-Alcalde, Daniel; Balaguer, Francesc; Ruiz-Ponte, Clara; Valle, Laura; Moreno, Victor; Castellvi-Bel, Sergi.
    Reference: Journal Of Medical Genetics 2020.
  • Germline biallelic MCM8 variants are associated with early-onset Lynch-like syndrome

    Authors: Golubicki M, Bonjoch L, Acuña-Ochoa JG, Díaz-Gay M, Muñoz J, Cuatrecasas M, Ocaña T, Iseas S, Mendez G, Cisterna D, Schubert SA, Nielsen M, van Wezel T, Goldberg Y, Pikarsky E, Robbio J, Roca E, Castells A, Balaguer F, Antelo M, Castellví-Bel S .
    Reference: Jci Insight 2020.
  • Germline Mutations in FAF1 Are Associated With Hereditary Colorectal Cancer

    Authors: Bonjoch, Laia; Franch-Exposito, Sebastia; Garre, Pilar; Belhadj, Sami; Munoz, Jenifer; Arnau-Collell, Coral; Diaz-Gay, Marcos; Gratacos-Mulleras, Anna; Raimondi, Giulia; Esteban-Jurado, Clara; Soares de Lima, Yasmin; Herrera-Pariente, Cristina; Cuatrecasas, Miriam; Ocana, Teresa; Castells, Antoni; Fillat, Cristina; Capella, Gabriel; Balaguer, Francesc; Caldes, Trinidad; Valle, Laura; Castellvi-Bel, Sergi.
    Reference: Gastroenterology 2020.
  • Using linkage studies combined with whole-exome sequencing to identify novel candidate genes for familial colorectal cancer

    Authors: Toma, Claudio; Diaz-Gay, Marcos; Franch-Exposito, Sebastia; Arnau-Collell, Coral; Overs, Bronwyn; Munoz, Jenifer; Bonjoch, Laia; de Lima, Yasmin Soares; Ocana, Teresa; Cuatrecasas, Miriam; Castells, Antoni; Bujanda, Luis; Balaguer, Francesc; Cubiella, Joaquin; Caldes, Trinidad; Fullerton, Janice M; Castellvi-Bel, Sergi.
    Reference: International Journal Of Cancer 2020.
  • Approaches to functionally validate candidate genetic variants involved in colorectal cancer predisposition.

    Authors: 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

    Authors: Diaz-Gay, Marcos; Vila-Casadesus, Maria; Franch-Exposito, Sebastia; Hernandez-Illan, Eva; Jose Lozano, Juan; Castellvi-Bel, Sergi;.
    Reference: Bmc Bioinformatics 2018.

Featured Projects

  • Twinning for a European consortium of rectal cancer research institutions through stepping up scientific, technological and innovation excellence of IORS (STEPUPIORS)

    Principal investigator: Sergi Castellvi Bel
    Funder: European Commission
    Code: HE_WD_21
    Duration: 01/10/2022 - 30/09/2025
  • Colorectal cancer in adolescents and young adults: identification of germline predisposition and somatic insults by a comprehensive multiomic characterization

    Principal investigator: Sergi Castellvi Bel
    Funder: Fundacion Cientifica de la Asociacion Espanola contra el Cancer
    Code: AECC_Proyectos21
    Duration: 01/12/2021 - 30/11/2024
  • Germline predisposition to serrated polyposis syndrome: functional charaterization of candidate genes by CRISPR-CAS and organoid modeling

    Principal investigator: Sergi Castellvi Bel
    Funder: Fundació La Marató de TV3
    Code: TV3_Minoritaries_20
    Duration: 30/03/2021 - 29/03/2024
  • Germline predisposition to colorectal cancer: functional characterization of new genes by CRISPR/CAS and organoid modeling (PARAGON)

    Principal investigator: Sergi Castellvi Bel
    Funder: Instituto de Salud Carlos III
    Code: PI20/00113
    Duration: 01/01/2021 - 31/12/2023
  • Identifying biomarkers through translational research for prevention and stratification of colorectal cancer (TRANSCOLONCAN)

    Principal investigator: Sergi Castellvi Bel
    Funder: European Comission (EU)
    Code: H2020-CA17118
    Duration: 01/11/2018 - 30/09/2023