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World J Gastroenterol. Feb 28, 2014; 20(8): 1961-1971
Published online Feb 28, 2014. doi: 10.3748/wjg.v20.i8.1961
Published online Feb 28, 2014. doi: 10.3748/wjg.v20.i8.1961
New genes emerging for colorectal cancer predisposition
Clara Esteban-Jurado, Anna Abulí, Jenifer Muñoz, Francesc Balaguer, Teresa Ocaña, Antoni Castells, Josep M Piqué, Sergi Castellví-Bel, 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, 08036 Barcelona, Catalonia, Spain
Anna Abulí, Xavier Bessa, Montserrat Andreu, Department of Gastroenterology, Hospital del Mar-IMIM (Hospital del Mar Medical Research Centre), Pompeu Fabra University, 08003 Barcelona, Spain
Maria Vila, Juan José Lozano, Bioinformatics platform, Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD), 08036 Barcelona, Spain
Anna Pristoupilova, Sergi Beltrán, Centre Nacional d’Anàlisi Genòmica (CNAG), Parc Científic de Barcelona, 08028 Barcelona, Spain
Angel Carracedo, Clara Ruiz-Ponte, Galician Public Foundation of Genomic Medicine (FPGMX), Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Genomics Medicine Group, Hospital Clínico, Santiago de Compostela, University of Santiago de Compostela, 15706 Galicia, Spain
Angel Carracedo, Center of Excellence in Genomic Medicine Research, King Abdulaziz University, 21589 Jeddah, Kingdom of Saudi Arabia
Luis Bujanda, Gastroenterology Department, Hospital Donostia, Networked Biomedical Research Centre for Hepatic and Digestive Diseases (CIBEREHD), Basque Country University, 20080 San Sebastián, Spain
Pilar Garre, Trinidad Caldés, Molecular Oncology Laboratory, Hospital Clínico San Carlos, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC), 28040 Madrid, Spain
Author contributions: Esteban-Jurado C, Garre P, Vila M, Lozano JJ, Pristoupilova A, Beltrán S, Abulí A, Muñoz J, Balaguer F, Ocaña T, Castells A, Piqué JM, Carracedo A, Ruiz-Ponte C, Bessa X, Andreu M, Bujanda L, Caldés T and Castellví-Bel S contributed to this paper.
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)
Correspondence to: 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
Telephone: +34-93-2275418 Fax: +34-93-3129405
Received: October 1, 2013
Revised: November 7, 2013
Accepted: January 14, 2014
Published online: February 28, 2014
Processing time: 148 Days and 8.7 Hours
Revised: November 7, 2013
Accepted: January 14, 2014
Published online: February 28, 2014
Processing time: 148 Days and 8.7 Hours
Core Tip
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.