New genes emerging for colorectal cancer predisposition
| Autor: | María Vila, C. Ruiz-Ponte, Anna Abulí, Clara Esteban-Jurado, Antoni Castells, Francesc Balaguer, Luis Bujanda, Anna Pristoupilova, Juan José Lozano, Pilar Garre, Montserrat Andreu, T. Caldes, Sergi Castellví-Bel, Angel Carracedo, Josep M. Piqué, Jenifer Muñoz, Sergi Beltran, Teresa Ocaña, Xavier Bessa |
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| Přispěvatelé: | Universitat de Barcelona |
| Rok vydání: | 2014 |
| Předmět: |
Adenomatous polyposis coli
Single-nucleotide polymorphism Environment Genetic polymorphisms Polymorphism Single Nucleotide Genètica molecular Familial adenomatous polyposis Germline mutation Risk Factors Càncer colorectal Malalties hereditàries medicine Genetic predisposition Humans Genetic Predisposition to Disease Topic Highlight Molecular genetics Exome Genetic Association Studies Germ-Line Mutation Genetics Geography biology Genome Human Incidence Polimorfisme genètic Gastroenterology Genetic Variation Family aggregation Sequence Analysis DNA General Medicine medicine.disease Colorectal Neoplasms Hereditary Nonpolyposis Colorectal cancer digestive system diseases Lynch syndrome Adenomatous Polyposis Coli biology.protein Colorectal Neoplasms Genetic diseases |
| Zdroj: | Dipòsit Digital de la UB Universidad de Barcelona Recercat. Dipósit de la Recerca de Catalunya instname |
| ISSN: | 1007-9327 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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