Identification of patients at-risk for Lynch syndrome in a hospital-based colorectal surgery clinic

作     者：Patrícia Koehler-Santos Patricia Izetti Jamile Abud Carlos Eduardo Pitroski Silvia Liliana Cossio Suzi Alves Camey Cláudio Tarta Daniel C Damin Paulo Carvalho Contu Mario Antonello Rosito Patricia Ashton-Prolla Joāo Carlos Prolla 

作者机构：Genomic Medicine LaboratoryExperimental Research CenterHospital de Clínicas de Porto Alegre Post-Graduate Program in Medical SciencesFederal University of Rio Grande do Sul National Institute for Populational Medical Genetics Medical SchoolFederal University of Rio Grande do Sul Post-Graduate Program in Gastroenterological SciencesFederal University of Rio Grande do Sul Department of StatisticsFederal University of Rio Grande do Sul Post-Graduate Program in EpidemiologyFederal University of Rio Grande do Sul Research and Post-Graduation GroupHospital de Clínicas de Porto Alegre Division of ColoproctologyHospital de Clínicas de Porto Alegre Department of SurgeryFederal University of Rio Grande do Sul Medical Genetics ServiceHospital de Clínicas de Porto Alegre Department of GeneticsFederal University of Rio Grande do Sul Service of PathologyHospital de Clínicas de Porto AlegrePorto Alegre-RS90035-903Brazil 

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

年 卷 期：2011年第17卷第6期

页      面：766-773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：Conselho Nacional de Desenvolvimento Cientifico e Tecnologico (CNPq) Fundacao de Amparo a Pesquisa do Estado do Rio Grande do Sul (FAPERGS) Programa de Pos-Graduacao em Ciencias Gastroenterologicas (UFRGS) Fundacao de Incentivo a Pesquisa do Hospital de Clinicas de Porto Alegre (FIPe-HCPA) 

主　　题：风险评估 大肠癌 综合征 患者 微卫星不稳定性 诊疗 手术 基础 

摘      要：AIM:To determine the prevalence of a family history suggestive of Lynch syndrome (LS) among patients with colorectal cancer (CRC) followed in a coloproctology outpatient clinic in Southern ***:A consecutive sample of patients with CRC were interviewed regarding personal and family histories of *** data and pathology features of the tumor were obtained from chart ***:Of the 212 CRC patients recruited,61 (29%) reported a family history of CRC,45 (21.2%) were diagnosed under age 50 years and 11 (5.2%) had more than one primary *** histories consistent with Amsterdam and revised Bethesda criteria for LS were identified in 22 (10.4%) and 100 (47.2%) patients,*** percent of the colorectal tumors had features of the high microsatellite instability phenotype,which was associated with younger age at CRC diagnosis and with Bethesda criteria (P 0.001).Only 5.3% of the patients above age 50 years had been previously submitted for CRC screening and only 4% of patients with suspected LS were referred for genetic risk ***:A significant proportion of patients with CRC were at high risk for *** and training of health care professionals are essential to ensure proper management.