New genes emerging for colorectal cancer predisposition

作     者：Clara Esteban-Jurado Pilar Garre Maria Vila Juan José Lozano Anna Pristoupilova Sergi Beltrán Anna Abulí Jenifer Muoz Francesc Balaguer Teresa Ocaa Antoni Castells Josep M Piqué Angel Carracedo Clara Ruiz-Ponte Xavier Bessa Montserrat Andreu Luis Bujanda Trinidad Caldés Sergi Castellví-Bel 

作者机构：Department of GastroenterologyHospital ClínicCentro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas(CIBEREHD)Institut d’Investigacions Biomèdiques August Pi i Sunyer(IDIBAPS)University of Barcelona08036 BarcelonaCataloniaSpain Molecular Oncology LaboratoryHospital Clínico San CarlosInstituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC)28040 MadridSpain Bioinformatics platformCentro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREHD)08036 BarcelonaSpain Centre Nacional d’Anàlisi Genòmica (CNAG)Parc Científic de Barcelona08028 BarcelonaSpain Department of GastroenterologyHospital del Mar-IMIM (Hospital del Mar Medical Research Centre)Pompeu Fabra University08003 BarcelonaSpain Galician Public Foundation of Genomic Medicine (FPGMX)Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER)Genomics Medicine GroupHospital ClínicoSantiago de CompostelaUniversity of Santiago de Compostela15706 GaliciaSpain Center of Excellence in Genomic Medicine ResearchKing Abdulaziz University21589 JeddahKingdom of Saudi Arabia Gastroenterology DepartmentHospital DonostiaNetworked Biomedical Research Centre for Hepatic and Digestive Diseases (CIBEREHD)Basque Country University20080 San SebastiánSpain 

出 版 物：《World Journal of Gastroenterology》 (世界胃肠病学杂志（英文版）)

年 卷 期：2014年第20卷第8期

页      面：1961-1971页

核心收录：

学科分类：1002[医学-临床医学] 100214[医学-肿瘤学] 10[医学] 

基　　金：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 CIB-ERER 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 Cien-cia e Innovación,No.SAF2010-19273 Asociación Espaola contra el Cáncer(Fundación Científica GCB13131592CAST y Junta de Barcelona) FundacióOlga Torres(SCB and CRP) FP7 CHIBCHA Consortium(SCB and ACar) COST Action BM1206(SCB and CRP) 

主　　题：Colorectal neoplasm, genetic predisposition to disease Next generation sequencing Genotype-phenotype correlation Genetic variant Single nucleotide polymorphism 

摘      要：Colorectal cancer(CRC)is one of the most frequent neoplasms and an important cause of mortality in the developed *** cancer is caused by both genetic and environmental factors although 35%of the variation in CRC susceptibility involves inherited genetic *** syndromes account for about5%of the total burden of CRC,with Lynch syndrome and familial adenomatous polyposis the most common *** hereditary forms,there is an important fraction of CRC cases that present familial aggregation for the disease with an unknown germline genetic *** can be also considered as a complex disease taking into account the common diseasecommom variant hypothesis with a polygenic model of inheritance where the genetic components of common complex diseases correspond mostly to variants of low/moderate *** far,30 common,low-penetrance susceptibility variants have been identified for ***,new sequencing technologies including exomeand whole-genome sequencing have permitted to add a new approach to facilitate the identification of new genes responsible for human disease *** 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.