Please use this identifier to cite or link to this item:
Title: New genes emerging for colorectal cancer predisposition.
Author: Esteban-Jurado, Clara
Garre, Pilar
Vila, Maria
Lozano Salvatella, Juan José
Pristoupilova, Anna
Beltrán, Sergi
Abulí, Anna
Muñoz, Jenifer
Balaguer Prunés, Francesc
Ocaña, Teresa
Castells Garangou, Antoni
Piqué, J. M. (Piqué Badía)
Carracedo Álvarez, Ángel
Ruiz-Ponte, Clara
Bessa i Caserras, Xavier
Andreu, Montserrat
Bujanda, Luis
Caldés, Trinidad
Castellví Bel, Sergi
Keywords: Càncer colorectal
Malalties hereditàries
Genètica molecular
Polimorfisme genètic
Colorectal cancer
Genetic diseases
Molecular genetics
Genetic polymorphisms
Issue Date: 28-Feb-2014
Publisher: Baishideng Publishing Group
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.
Note: Reproducció del document publicat a:
It is part of: World Journal of Gastroenterology, 2014, vol. 20, num. 8, p. 1961-1971
Related resource:
ISSN: 1007-9327
Appears in Collections:Articles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer)
Articles publicats en revistes (Medicina)

Files in This Item:
File Description SizeFormat 
644893.pdf1.28 MBAdobe PDFView/Open

This item is licensed under a Creative Commons License Creative Commons