| Category |
Genetics & Heredity |
| Manuscript Type |
Topic Highlights |
| Article Title |
New genes emerging for colorectal cancer predisposition
|
| Manuscript Source |
Invited Manuscript |
| All Author List |
Clara Esteban-Jurado, Pilar Garre, Maria Vila, Juan José Lozano, Anna Pristoupilova, Sergi Beltrán, Anna Abulí, Jenifer Muñoz, Francesc Balaguer, Teresa Ocaña, Antoni Castells, Josep M Piqué, Angel Carracedo, Clara Ruiz-Ponte, Xavier Bessa, Montserrat Andreu, Luis Bujanda, Trinidad Caldés and Sergi Castellví-Bel |
| Funding Agency and Grant Number |
| Funding Agency |
Grant Number |
| Fondo de Investigación Sanitaria |
CP 03-0070 |
| CIBERehd |
|
| Instituto de Salud Carlos III |
|
| Fondo de Investigación Sanitaria/FEDER |
11/00219 |
| Fondo de Investigación Sanitaria/FEDER |
11/00681 |
| Instituto de Salud Carlos III (Acción Transversal de Cáncer), Xunta de Galicia |
07PXIB9101209PR |
| Ministerio de Ciencia e Innovación |
SAF2010-19273 |
| Asociación Española contra el Cáncer |
GCB13131592CAST |
|
| Corresponding Author |
Sergi Castellví-Bel, PhD, Department of Gastroenterology, Hospital Clínic, Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), University of Barcelona, Rosselló 153 planta 4, 08036 Barcelona, Catalonia, Spain. sbel@clinic.ub.es
|
| Key Words |
Colorectal neoplasm; genetic predisposition to disease; Next generation sequencing; Genotype-phenotype correlation; Genetic variant; Single nucleotide polymorphism |
| Core Tip |
Colorectal cancer (CRC) 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. Excluding hereditary forms, there is an important fraction of CRC cases that present familial aggregation for the disease with an unknown germline genetic cause. Recently, new sequencing technologies have permitted to add a new approach to identify new genes responsible for human disease predisposition. By doing so, germline mutations in the POLE and POLD1 genes have been found to be responsible for a new form of CRC genetic predisposition.
|
| Publish Date |
2014-02-26 11:18 |
| Citation |
Esteban-Jurado C, Garre P, Vila M, Lozano JJ, Pristoupilova A, Beltrán S, Abulí A, Mu?oz J, Balaguer F, Oca?a T, Castells A, Piqué JM, Carracedo A, Ruiz-Ponte C, Bessa X, Andreu M, Bujanda L, Caldés T, Castellví-Bel S. New genes emerging for colorectal cancer predisposition. World J Gastroenterol 2014; 20(8): 1961-1971 |
| URL |
http://www.wjgnet.com/1007-9327/full/v20/i8/1961.htm |
| DOI |
http://dx.doi.org/10.3748/wjg.v20.i8.1961 |
