New genes emerging for colorectal cancer predisposition

• Published in: World journal of gastroenterology : WJG Vol. 20; no. 8; pp. 1961 - 1971
• Main Authors: Esteban-Jurado, Clara, Garre, Pilar, Vila, Maria, Lozano, Juan José, Pristoupilova, Anna, Beltrán, Sergi, Abulí, Anna, Muñoz, Jenifer, Balaguer, Francesc, Ocaña, Teresa, Castells, Antoni, Piqué, Josep M, Carracedo, Angel, Ruiz-Ponte, Clara, Bessa, Xavier, Andreu, Montserrat, Bujanda, Luis, Caldés, Trinidad, Castellví-Bel, Sergi
• Format: Journal Article
• Language: English
• Published: United States Baishideng Publishing Group 28.02.2014; Baishideng Publishing Group Co., Limited
• Subjects: Adenomatous Polyposis Coli - diagnosis; Adenomatous Polyposis Coli - genetics; Colorectal; Colorectal cancer; Colorectal Neoplasms - diagnosis; Colorectal Neoplasms - genetics; Colorectal Neoplasms, Hereditary Nonpolyposis - diagnosis; Colorectal Neoplasms, Hereditary Nonpolyposis - genetics; Càncer colorectal; dise; Environment; Genetic Association Studies; Genetic diseases; Genetic polymorphisms; Genetic Predisposition to Disease; Genetic Variation; Genome, Human; Genètica molecular; Geography; Germ-Line Mutation; Humans; Incidence; Malalties hereditàries; Molecular genetics; neoplasm,genetic; Polimorfisme genètic; Polymorphism, Single Nucleotide; predisposition; Risk Factors; Sequence Analysis, DNA; Topic Highlight; Genotype-phenotype correlation; Colorectal neoplasm, genetic predisposition to disease; Single nucleotide polymorphism; Next generation sequencing; Genetic variant
• ISSN: 1007-9327; 2219-2840
• DOI: 10.3748/wjg.v20.i8.1961

Colorectal cancer(CRC)is one of the most frequent neoplasms and an important cause of mortality in the developed world.This cancer is caused by both genetic and environmental factors although 35%of the variation in CRC susceptibility involves inherited genetic differences.Mendelian syndromes account for about5%of the total burden of CRC,with Lynch syndrome and familial adenomatous polyposis the most common forms.Excluding hereditary forms,there is an important fraction of CRC cases that present familial aggregation for the disease with an unknown germline genetic cause.CRC can be also considered as a complex disease taking into account the common diseasecommom variant hypothesis with a polygenic model of inheritance where the genetic components of common complex diseases correspond mostly to variants of low/moderate effect.So far,30 common,low-penetrance susceptibility variants have been identified for CRC.Recently,new sequencing technologies including exomeand whole-genome sequencing have permitted to add a new approach to facilitate the identification of new genes responsible for human disease predisposition.By using whole-genome sequencing,germline mutations in the POLE and POLD1 genes have been found to be responsible for a new form of CRC genetic predisposition called polymerase proofreading-associated polyposis.