
Sergi Castellví-Bel
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
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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 Z, Law P, Thomas M, Schmit S, Díez-Obrero V, Hsu L, Fernandez-Tajes J, Palles C, Sherwood K, Briggs S, Svinti V, Donnelly K, Farrington S, Blackmur J, Vaughan-Shaw P, Shu XO, Long J, Cai Q, Guo X, Lu Y, Broderick P, Studd J, Huyghe J, Harrison T, Conti D, Dampier 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 W, Matsuo K, Matsuda K, Tanikawa C, Ren Z, Gao YT, Jia WH, Hopper J, Jenkins M, Win AK, Pai R, Figueiredo J, Haile R, Gallinger S, Woods M, Newcomb P, Duggan 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, Hayes 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 A, Cruz-Correa M, Lindblom A, Hunter 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, Chanock 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 C, Bézieau S, Tangen C, Mardis E, Yamaji T, Sawada N, Iwasaki M, Haiman C, Le Marchand L, Wu A, McNeil C, Coetzee G, Hayward C, Deary I, Harris S, Theodoratou E, Reid S, Walker M, Ooi LY, Moreno V, Casey G, Gruber S, Tomlinson I, Zheng W, Dunlop M, Houlston R, Peters U .Reference: Nature 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. -
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 2022. -
Using linkage studies combined with whole-exome sequencing to identify novel candidate genes for familial colorectal cancer
Authors: Toma C, Díaz-Gay M, Franch-Expósito S, Arnau-Collell C, Overs B, Muñoz J, Bonjoch L, Soares de Lima Y, Ocaña T, Cuatrecasas M, Castells A, Bujanda L, Balaguer F, Cubiella J, Caldés T, Fullerton JM, Castellví-Bel S .Reference: International Journal Of Cancer 2020. -
Colorectal cancer genetic variants are also associated with serrated polyposis syndrome susceptibility
Authors: Arnau-Collell C, Soares de Lima Y, Díaz-Gay M, Muñoz J, Carballal S, Bonjoch L, Moreira L, Lozano JJ, Ocaña T, Cuatrecasas M, Díaz de Bustamante A, Castells A, Capellà G, Bujanda L, Cubiella J, Rodríguez-Alcalde D, Balaguer F, Ruiz-Ponte C, Valle L, Moreno V, Castellvi-Bel S .Reference: Journal Of Medical Genetics 2020. -
Germline Mutations in FAF1 Are Associated With Hereditary Colorectal Cancer
Authors: Bonjoch L, Franch-Expósito S, Garre P, Belhadj S, Muñoz J, Arnau-Collell C, Díaz-Gay M, Gratacós-Mulleras A, Raimondi G, Esteban-Jurado C, Soares de Lima Y, Herrera-Pariente C, Cuatrecasas M, Ocaña T, Castells A, Fillat C, Capellá G, Balaguer F, Caldés T, Valle L, Castellví-Bel S .Reference: Gastroenterology 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. -
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
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Colorectal cancer in adolescents and young adults: identification of germline predisposition and somatic insults by a comprehensive multiomic characterization
Principal investigator: Sergi Castellvi BelFunder: Fundacion Cientifica Asociacion Espanola Contra el CancerCode: PRYGN211085CASTDuration: 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 BelFunder: La Marató de TV3Duration: 01/04/2021 - 31/03/2024 -
Germline predisposition to colorectal cancer: functional characterization of new genes by CRISPR/CAS and organoid modeling (PARAGON)
Principal investigator: Sergi Castellvi BelFunder: Fondo de Investigación Sanitaria (FIS) Instituto de Salud Carlos III, Ministerio de Sanidad y ConsumoCode: FIS20/00113Duration: 01/01/2021 - 31/12/2023 -
Identifying biomarkers through translational research for prevention and stratification of colorectal cancer (TRANSCOLONCAN)
Principal investigator: Sergi Castellvi BelFunder: European Comission (EU)Code: H2020-CA17118Duration: 01/11/2018 - 30/04/2022 -
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 BelCode: HE_WD_21Duration: 01/10/2022 - 30/09/2025