Current status of the genetic susceptibility in attenuated adenomatous polyposis

作     者：Víctor Lorca Pilar Garre 

作者机构：Laboratorio de Oncología MolecularGrupo de Investigación Clínica y Traslacional en OncologíaHospital Clínico San CarlosMadrid 28040Spain Laboratorio de Oncología MolecularServicio de OncologíaHospital Clínico San CarlosMadrid 28040Spain 

出 版 物：《World Journal of Gastrointestinal Oncology》 (世界胃肠肿瘤学杂志（英文版）（电子版）)

年 卷 期：2019年第11卷第12期

页      面：1101-1114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] 

主　　题：Attenuated adenomatous polyposis Genetic susceptibility High predisposition gene Genetic heterogeneity Colorectal cancer 

摘      要：Adenomatous polyposis(AP)is classified according to cumulative adenoma number in classical AP(CAP)and attenuated AP(AAP).Genetic susceptibility is the major risk factor in CAP due to mutations in the known high predisposition genes APC and MUTYH.However,the contribution of genetic susceptibility to AAP is lower and less understood.New predisposition genes have been recently proposed,and some of them have been validated,but their scarcity hinders accurate risk estimations and prevalence calculations.AAP is a heterogeneous condition in terms of severity,clinical features and heritability.Therefore,clinicians do not have strong discriminating criteria for the recommendation of the genetic study of known predisposition genes,and the detection rate is low.Elucidation and knowledge of new AAP high predisposition genes are of great importance to offer accurate genetic counseling to the patient and family members.This review aims to update the genetic knowledge of AAP,and to expound the difficulties involved in the genetic analysis of a highly heterogeneous condition such as AAP.