title: Seeking genetic susceptibility variants for colorectal cancer: the EPICOLON consortium experience.
abstract: The EPICOLON consortium was initiated in 1999 by the Gastrointestinal Oncology Group of the Spanish Gastroenterology Association. It recruited consecutive, unselected, population-based colorectal cancer (CRC) cases and control subjects matched by age and gender without personal or familial history of cancer all over Spain with the main goal of gaining knowledge in Lynch syndrome and familial CRC. This epidemiological, prospective and multicentre study collected extensive clinical data and biological samples from ∼2000 CRC cases and 2000 controls in Phases 1 and 2 involving 25 and 14 participating hospitals, respectively. Genetic susceptibility projects in EPICOLON have included candidate-gene approaches evaluating single-nucleotide polymorphisms/genes from the historical category (linked to CRC risk by previous studies), from human syntenic CRC susceptibility regions identified in mouse, from the CRC carcinogenesis-related pathways Wnt and BMP, from regions 9q22 and 3q22 with positive linkage in CRC families, and from the mucin gene family. This consortium has also participated actively in the identification 5 of the 16 common, low-penetrance CRC genetic variants identified so far by genome-wide association studies. Finishing their own pangenomic study and performing whole-exome sequencing in selected CRC samples are among EPICOLON future research prospects.
authors.affiliation: Department of Gastroenterology, Hospital Clínic, CIBERehd, IDIBAPS, University of Barcelona, Villarroel 170, 08036 Barcelona, Catalonia, Spain. sbel@clinic.ub.es
authors.forename: Sergi
authors.initials: S
authors.lastname: Castellví-Bel
authors.forename: Clara
authors.initials: C
authors.lastname: Ruiz-Ponte
authors.forename: Ceres
authors.initials: C
authors.lastname: Fernández-Rozadilla
authors.forename: Anna
authors.initials: A
authors.lastname: Abulí
authors.forename: Jenifer
authors.initials: J
authors.lastname: Muñoz
authors.forename: Xavier
authors.initials: X
authors.lastname: Bessa
authors.forename: Alejandro
authors.initials: A
authors.lastname: Brea-Fernández
authors.forename: Marta
authors.initials: M
authors.lastname: Ferro
authors.forename: María Dolores
authors.initials: MD
authors.lastname: Giráldez
authors.forename: Rosa M
authors.initials: RM
authors.lastname: Xicola
authors.forename: Xavier
authors.initials: X
authors.lastname: Llor
authors.forename: Rodrigo
authors.initials: R
authors.lastname: Jover
authors.forename: Josep M
authors.initials: JM
authors.lastname: Piqué
authors.forename: Montserrat
authors.initials: M
authors.lastname: Andreu
authors.forename: Antoni
authors.initials: A
authors.lastname: Castells
authors.forename: Angel
authors.initials: A
authors.lastname: Carracedo
mesh_terms: D002986:Clinical Trials as Topic; D015179:Colorectal Neoplasms / Q000175:diagnosis / Q000235:genetics*; D052138:Genes, Neoplasm; D020022:Genetic Predisposition to Disease; D015894:Genome, Human; D055106:Genome-Wide Association Study; D006801:Humans; D011110:Polymorphism, Genetic / Q000235:genetics*; D044465:White People