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

World Journal of Gastroenterology 2011年第6期17卷 766-773页

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 Genomic Medicine Laboratory Experimental Research CenterHospital de Clínicas de Porto Alegre Post-Graduate Program in Medical Sciences Federal University of Rio Grande do Sul National Institute for Populational Medical Genetics Medical School Federal University of Rio Grande do Sul Post-Graduate Program in Gastroenterological Sciences Federal University of Rio Grande do Sul Department of Statistics Federal University of Rio Grande do Sul Post-Graduate Program in Epidemiology Federal University of Rio Grande do Sul Research and Post-Graduation Group Hospital de Clínicas de Porto Alegre Division of Coloproctology Hospital de Clínicas de Porto Alegre Department of Surgery Federal University of Rio Grande do Sul Medical Genetics Service Hospital de Clínicas de Porto Alegre Department of Genetics Federal University of Rio Grande do Sul Service of Pathology Hospital de Clínicas de Porto AlegrePorto Alegre-RS90035-903Brazil

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.

关键词： Colorectal cancer Family history Hereditary cancer Lynch syndrome Microsatellite instability phenotype

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