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Review
. 2014 Feb 28;20(8):1961-71.
doi: 10.3748/wjg.v20.i8.1961.

New genes emerging for colorectal cancer predisposition

Clara Esteban-Jurado  1 , Pilar Garre  1 , Maria Vila  1 , Juan José Lozano  1 , Anna Pristoupilova  1 , Sergi Beltrán  1 , Anna Abulí  1 , Jenifer Muñoz  1 , Francesc Balaguer  1 , Teresa Ocaña  1 , Antoni Castells  1 , Josep M Piqué  1 , Angel Carracedo  1 , Clara Ruiz-Ponte  1 , Xavier Bessa  1 , Montserrat Andreu  1 , Luis Bujanda  1 , Trinidad Caldés  1 , Sergi Castellví-Bel  1
Affiliations
Review

New genes emerging for colorectal cancer predisposition

Clara Esteban-Jurado et al. World J Gastroenterol. .

Abstract

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 about 5% 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 disease-commom 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 exome- and 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.

Keywords: Colorectal neoplasm, genetic predisposition to disease; Genetic variant; Genotype-phenotype correlation; Next generation sequencing; Single nucleotide polymorphism.

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Figures

Figure 1
Figure 1
Colorectal cancer in the world. A: Estimated age-standarized incidence rate per 100000 individuals (both genders and all ages); B: Estimated age-standarized incidence and mortality rate per 100000 individuals by genders (data adapted from Ferlay et al[2]).
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