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2014-02-28

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cc-by-nc (c) Esteban-Jurado, Clara et al., 2014
Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/122328

New genes emerging for colorectal cancer predisposition.

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Recurs relacionat

https://doi.org/10.3748/wjg.v20.i8.1961

Resum

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.

Matèries

Càncer colorectal, Malalties hereditàries, Genètica molecular, Polimorfisme genètic

Matèries (anglès)

Colorectal cancer, Genetic diseases, Molecular genetics, Genetic polymorphisms

Citació

Col·leccions

Articles publicats en revistes (Medicina)
Articles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer)

Citació

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. New genes emerging for colorectal cancer predisposition.. _World Journal of Gastroenterology_. 2014. Vol. 20, núm. 8, pàgs. 1961-1971. [consulta: 31 de gener de 2026]. ISSN: 1007-9327. [Disponible a: https://hdl.handle.net/2445/122328]

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