Brief Article
Copyright ©2011 Baishideng Publishing Group Co., Limited. All rights reserved.
World J Gastroenterol. Feb 14, 2011; 17(6): 766-773
Published online Feb 14, 2011. doi: 10.3748/wjg.v17.i6.766
Identification of patients at-risk for Lynch syndrome in a hospital-based colorectal surgery clinic
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, João Carlos Prolla
Patrícia Koehler-Santos, Patricia Izetti, Jamile Abud, Carlos Eduardo Pitroski, Silvia Liliana Cossio, Patricia Ashton-Prolla, Genomic Medicine Laboratory, Experimental Research Center, Hospital de Clínicas de Porto Alegre, Porto Alegre - RS, 90035-903, Brazil
Patrícia Koehler-Santos, Carlos Eduardo Pitroski, Patricia Ashton-Prolla, Post-Graduate Program in Medical Sciences, Federal University of Rio Grande do Sul, Porto Alegre - RS, 90035-003, Brazil
Patrícia Koehler-Santos, Silvia Liliana Cossio, Patricia Ashton-Prolla, National Institute for Populational Medical Genetics, Porto Alegre - RS, 90035-903, Brazil
Patricia Izetti, Medical School, Federal University of Rio Grande do Sul, Porto Alegre - RS, 90035-003, Brazil
Jamile Abud, João Carlos Prolla, Post-Graduate Program in Gastroenterological Sciences, Federal University of Rio Grande do Sul, Porto Alegre - RS, 90035-003, Brazil
Suzi Alves Camey, Department of Statistics, Federal University of Rio Grande do Sul, Porto Alegre - RS, 91501-970, Brazil
Suzi Alves Camey, Post-Graduate Program in Epidemiology, Federal University of Rio Grande do Sul, Porto Alegre - RS, 90035-003, Brazil
Suzi Alves Camey, Research and Post-Graduation Group, Hospital de Clínicas de Porto Alegre, Porto Alegre - RS, 90035-903, Brazil
Cláudio Tarta, Daniel C Damin, Paulo Carvalho Contu, Mario Antonello Rosito, Division of Coloproctology, Hospital de Clínicas de Porto Alegre, Porto Alegre - RS, 90035-903, Brazil
Cláudio Tarta, Daniel C Damin, Paulo Carvalho Contu, Mario Antonello Rosito, Department of Surgery, Federal University of Rio Grande do Sul, Porto Alegre - RS, 90035-003, Brazil
Patricia Ashton-Prolla, Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre - RS, 90035-903, Brazil
Patricia Ashton-Prolla, Department of Genetics, Federal University of Rio Grande do Sul, Porto Alegre - RS, 91501-970, Brazil
João Carlos Prolla, Service of Pathology, Hospital de Clínicas de Porto Alegre, Porto Alegre - RS, 90035-903, Brazil
Author contributions: Koehler-Santos P identified and interviewed all consecutive colorectal cancer patients who agreed to participate in the study; Koehler-Santos P and Izetti P designed the database and performed the analysis under the supervision of Camey SA, and were directly involved in writing and editing the manuscript; Abud J, Pitroski CE and Cossio SL helped with acquisition of the data from patient databases; Tarta C, Damin DC, Contu PC and Rosito MA are the primary physicians of all patients and participated in patient identification; Prolla JC and Ashton-Prolla P were directly involved with the concept and design of the study, evaluation of patients at-risk and editing of the manuscript.
Correspondence to: Patricia Ashton-Prolla, MD, PhD, Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos 2350, Porto Alegre - RS, 90035-903, Brazil. pprolla@hcpa.ufrgs.br
Telephone: +55-51-33598011 Fax: +55-51-33598010
Received: February 8, 2010
Revised: March 23, 2010
Accepted: March 30, 2010
Published online: February 14, 2011
Abstract

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 Brazil.

METHODS: A consecutive sample of patients with CRC were interviewed regarding personal and family histories of cancer. Clinical data and pathology features of the tumor were obtained from chart review.

RESULTS: 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 CRC. Family histories consistent with Amsterdam and revised Bethesda criteria for LS were identified in 22 (10.4%) and 100 (47.2%) patients, respectively. Twenty 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 assessment.

CONCLUSION: A significant proportion of patients with CRC were at high risk for LS. Education and training of health care professionals are essential to ensure proper management.

Keywords: Colorectal cancer; Family history; Hereditary cancer; Lynch syndrome; Microsatellite instability phenotype