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, Yasmin; Arnau-Collell, Coral; Munoz, Jenifer; Herrera-Pariente, Cristina; Moreira, Leticia; Ocana, Teresa; Diaz-Gay, Marcos; Franch-Exposito, Sebastia; Cuatrecasas, Miriam; Carballal, Sabela; Lopez-Novo, Anael; Moreno, Lorena; Fernandez, Guerau; Diaz de Bustamante, Aranzazu; Peters, Sophia; Sommer, Anna K; Spier, Isabel; te Paske, Iris B A W; van Herwaarden, Yasmijn J; Castells, Antoni; Bujanda, Luis; Capella, Gabriel; Steinke-Lange, Verena; Mahmood, Khalid; Joo, JiHoon Eric; Arnold, Julie; Parry, Susan; Macrae, Finlay A; Winship, Ingrid M; Rosty, Christophe; Cubiella, Joaquin; Rodriguez-Alcalde, Daniel; Holinski-Feder, Elke; de Voer, Richarda; Buchanan, Daniel D; Aretz, Stefan; Ruiz-Ponte, Clara; Valle, Laura; Balaguer, Francesc; Bonjoch, Laia; Castellvi-Bel, Sergi.
    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, Mariano; Bonjoch, Laia; Acuna-Ochoa, Jose G; Diaz-Gay, Marcos; Munoz, Jenifer; Cuatrecasas, Miriam; Ocana, Teresa; Iseas, Soledad; Mendez, Guillermo; Cisterna, Daniel; Schubert, Stephanie A; Nielsen, Maartje; van Wezel, Tom; Goldberg, Yael; Pikarsky, Eli; Robbio, Juan; Roca, Enrique; Castells, Antoni; Balaguer, Francesc; Antelo, Marina; Castellvi-Bel, Sergi.
    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