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...
| Autores: | , , , , , , , , , , , , , , , , , , |
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| 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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oai:recercat.cat:10230/58572 |
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ES |
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España |
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New genes emerging for colorectal cancer predisposition 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 Colorectal neoplasm Genetic predisposition to disease Next generation sequencing Genotype-phenotype correlation Genetic variant Single nucleotide polymorphism 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. 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 Group http://hdl.handle.net/10230/58572 http://dx.doi.org/10.3748/wjg.v20.i8.1961 |
| 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 |
| 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 |
| topic |
Colorectal neoplasm Genetic predisposition to disease Next generation sequencing Genotype-phenotype correlation Genetic variant Single nucleotide polymorphism |
| topic_facet |
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 |
| format |
article |
| status_str |
publishedVersion |
| url |
http://hdl.handle.net/10230/58572 http://dx.doi.org/10.3748/wjg.v20.i8.1961 |
| eu_rights_str_mv |
openAccess |
| publisher |
Baishideng Publishing Group |
| institution |
Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya) |
| collection |
Recercat. Dipósit de la Recerca de Catalunya |
| reponame_str |
Recercat. Dipósit de la Recerca de Catalunya |
| instname_str |
Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya) |
| _version_ |
1878734228998324224 |
| publishDateSort |
2014 |
| author_browse |
Abulí, Anna Andreu García, Montserrat Balaguer Prunés, Francesc Beltrán, Sergi Bessa i Caserras, Xavier Bujanda, Luis Caldés, Trinidad Carracedo, Ángel Castells, Antoni Castellví Bel, Sergi Esteban Jurado, Clara Garre, Pilar Lozano, Juan José Muñoz, Jenifer Ocaña, Teresa Piqué, Josep M. Pristoupilova, Anna Ruiz Ponte, Clara Vila, Maria |
| publisherStr |
Baishideng Publishing Group |
| score |
6,8972664 |