Development and Validation of a Colon Cancer Risk Assessment Tool for Patients Undergoing Colonoscopy

Kastrinos, Fay; Allen, John I.; Stockwell, David H.; Stoffel, Elena M.; Cook, Earl F.; Mutinga, Muthoka L.; Balmaña, Judith; Syngal, Sapna
June 2009
American Journal of Gastroenterology;Jun2009, Vol. 104 Issue 6, p1508
Academic Journal
OBJECTIVES:Diagnostic criteria for hereditary colorectal cancer (CRC) are complex. “Open-access” colonoscopy makes it challenging to identify who needs genetic evaluation, intensive surveillance, and screening for extracolonic tumors. Our aim was to develop a simple, preprocedural risk assessment tool to identify who may be at highest risk for CRC.METHODS:A total of 631 outpatients undergoing colonoscopy at two academic practices completed a questionnaire assessing personal and family histories of CRC, polyps, and Lynch syndrome (LS)-associated malignancies. Subjects were considered to be high-risk if one of the nine prespecified characteristics of hereditary CRC syndromes was met. Through recursive partitioning analysis, an algorithm of fewest questions needed to capture the most high-risk individuals was developed. The results were validated in 5,335 individuals undergoing colonoscopy at five private endoscopy centers and tested in 285 carriers of mismatch repair mutations associated with LS.RESULTS:About 17.7% and 20.0% of individuals were classified as high-risk in the development and validation cohorts, respectively. Recursive partitioning revealed three questions that were most informative for identifying high-risk patients: (i) “Do you have a first-degree relative with CRC or LS-related cancer diagnosed before age 50?” (ii) “Have you had CRC or polyps diagnosed before age 50?” (iii) “Do you have ≥3 relatives with CRC?” When asked successively, these questions identified 77% of high-risk individuals in both cohorts and 271 of 285 (95%) of mutation carriers.CONCLUSIONS:Approximately one in five individuals undergoing colonoscopy would benefit from further risk assessment. We developed a simple, three-question CRC Risk Assessment Tool to identify the majority of patients who require additional assessment and possible genetic evaluation.Am J Gastroenterol 2009; 104:1508–1518; doi:10.1038/ajg.2009.135; published online 28 April 2009


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