New genes emerging for colorectal cancer predisposition

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 ac...

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Autores: Esteban Jurado, Clara, Garre, Pilar, Vila, Maria, Lozano, Juan José, Pristoupilova, Anna, Beltrán, Sergi, Abulí, Anna, Muñoz, Jenifer, Balaguer Prunés, Francesc, Ocaña, Teresa, Castells, Antoni, Piqué, Josep M., Carracedo, Ángel, Ruiz Ponte, Clara, Bessa i Caserras, Xavier, Andreu García, Montserrat, Bujanda, Luis, Caldés, Trinidad, Castellví Bel, Sergi
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2014
País:España
Institución:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:10230/58572
Acceso en línea:http://hdl.handle.net/10230/58572
http://dx.doi.org/10.3748/wjg.v20.i8.1961
Access Level:acceso abierto
Palabra clave:Colorectal neoplasm
Genetic predisposition to disease
Next generation sequencing
Genotype-phenotype correlation
Genetic variant
Single nucleotide polymorphism
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spelling New genes emerging for colorectal cancer predispositionEsteban Jurado, ClaraGarre, PilarVila, MariaLozano, Juan JoséPristoupilova, AnnaBeltrán, SergiAbulí, AnnaMuñoz, JeniferBalaguer Prunés, FrancescOcaña, TeresaCastells, AntoniPiqué, Josep M.Carracedo, ÁngelRuiz Ponte, ClaraBessa i Caserras, XavierAndreu García, MontserratBujanda, LuisCaldés, TrinidadCastellví Bel, SergiColorectal neoplasmGenetic predisposition to diseaseNext generation sequencingGenotype-phenotype correlationGenetic variantSingle nucleotide polymorphismColorectal 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.Supported by SCB is supported by a contract from the Fondo de Investigación Sanitaria, No. CP 03-0070; CEJ and JM are supported by a contract from CIBERehd; CIBERehd and CIBERER are funded by the Instituto de Salud Carlos III; Fondo de Investigación Sanitaria/FEDER, No.11/00219 and No. 11/00681, Instituto de Salud Carlos III (Acción Transversal de Cáncer), Xunta de Galicia, No. 07PXIB9101209PR, Ministerio de Ciencia e Innovación, No. SAF2010-19273, Asociación Española contra el Cáncer (Fundación Científica GCB13131592CAST y Junta de Barcelona), Fundació Olga Torres (SCB and CRP), FP7 CHIBCHA Consortium (SCB and ACar), and COST Action BM1206 (SCB and CRP).Baishideng Publishing Group202320232014info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfapplication/pdfhttp://hdl.handle.net/10230/58572http://dx.doi.org/10.3748/wjg.v20.i8.1961reponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)InglésWorld Journal Gastroenterology. 2014 Feb 28;20(8):1961-71info:eu-repo/grantAgreement/ES/3PN/SAF2010-19273Copyright © The author(s) 1995-2023. Published by Baishideng Publishing Group Inc. All rights reserved. Articles published by this open-access journal are distributed under the terms of the Creative Commons Attribution-Noncommercial (CC BY-NC 4.0) License, which permits use, distribution, and reproduction in any medium, provided the original work is properly cited, the use is non commercial and is otherwise in compliance with the license.http://creativecommons.org/licenses/by-nc/4.0/info:eu-repo/semantics/openAccessoai:recercat.cat:10230/585722026-05-29T05:05:01Z
dc.title.none.fl_str_mv New genes emerging for colorectal cancer predisposition
title New genes emerging for colorectal cancer predisposition
spellingShingle New genes emerging for colorectal cancer predisposition
Esteban Jurado, Clara
Colorectal neoplasm
Genetic predisposition to disease
Next generation sequencing
Genotype-phenotype correlation
Genetic variant
Single nucleotide polymorphism
title_short New genes emerging for colorectal cancer predisposition
title_full New genes emerging for colorectal cancer predisposition
title_fullStr New genes emerging for colorectal cancer predisposition
title_full_unstemmed New genes emerging for colorectal cancer predisposition
title_sort New genes emerging for colorectal cancer predisposition
dc.creator.none.fl_str_mv Esteban Jurado, Clara
Garre, Pilar
Vila, Maria
Lozano, Juan José
Pristoupilova, Anna
Beltrán, Sergi
Abulí, Anna
Muñoz, Jenifer
Balaguer Prunés, Francesc
Ocaña, Teresa
Castells, Antoni
Piqué, Josep M.
Carracedo, Ángel
Ruiz Ponte, Clara
Bessa i Caserras, Xavier
Andreu García, Montserrat
Bujanda, Luis
Caldés, Trinidad
Castellví Bel, Sergi
author Esteban Jurado, Clara
author_facet Esteban Jurado, Clara
Garre, Pilar
Vila, Maria
Lozano, Juan José
Pristoupilova, Anna
Beltrán, Sergi
Abulí, Anna
Muñoz, Jenifer
Balaguer Prunés, Francesc
Ocaña, Teresa
Castells, Antoni
Piqué, Josep M.
Carracedo, Ángel
Ruiz Ponte, Clara
Bessa i Caserras, Xavier
Andreu García, Montserrat
Bujanda, Luis
Caldés, Trinidad
Castellví Bel, Sergi
author_role author
author2 Garre, Pilar
Vila, Maria
Lozano, Juan José
Pristoupilova, Anna
Beltrán, Sergi
Abulí, Anna
Muñoz, Jenifer
Balaguer Prunés, Francesc
Ocaña, Teresa
Castells, Antoni
Piqué, Josep M.
Carracedo, Ángel
Ruiz Ponte, Clara
Bessa i Caserras, Xavier
Andreu García, Montserrat
Bujanda, Luis
Caldés, Trinidad
Castellví Bel, Sergi
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Colorectal neoplasm
Genetic predisposition to disease
Next generation sequencing
Genotype-phenotype correlation
Genetic variant
Single nucleotide polymorphism
topic Colorectal neoplasm
Genetic predisposition to disease
Next generation sequencing
Genotype-phenotype correlation
Genetic variant
Single nucleotide polymorphism
description 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.
publishDate 2014
dc.date.none.fl_str_mv 2014
2023
2023
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/10230/58572
http://dx.doi.org/10.3748/wjg.v20.i8.1961
url http://hdl.handle.net/10230/58572
http://dx.doi.org/10.3748/wjg.v20.i8.1961
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv World Journal Gastroenterology. 2014 Feb 28;20(8):1961-71
info:eu-repo/grantAgreement/ES/3PN/SAF2010-19273
dc.rights.none.fl_str_mv http://creativecommons.org/licenses/by-nc/4.0/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv http://creativecommons.org/licenses/by-nc/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv Baishideng Publishing Group
publisher.none.fl_str_mv Baishideng Publishing Group
dc.source.none.fl_str_mv reponame:Recercat. Dipósit de la Recerca de Catalunya
instname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
instname_str Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
reponame_str Recercat. Dipósit de la Recerca de Catalunya
collection Recercat. Dipósit de la Recerca de Catalunya
repository.name.fl_str_mv
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