Guidelines on Genetic Evaluation and Management of Lynch Syndrome

A Consensus Statement by the US Multi-Society Task Force on Colorectal Cancer

Francis M Giardiello MD; John I Allen; Jennifer E Axilbund; C Richard Boland; Carol A Burke; Randall W Burt; James M Church; Jason A Dominitz; David A Johnson; Tonya Kaltenbach; Theodore R Levin; David A Lieberman; Douglas J Robertson; Sapna Syngal; Douglas K Rex


Am J Gastroenterol. 2014;109(8):1159-1179. 

In This Article


Literature Review

A systematic computer-aided search of MEDLINE from 2005 to 2012 was performed focusing on LS, hereditary nonpolyposis colorectal cancer (HNPCC), and associated reports of genetic testing. The search identified all literature under the medical subject headings and text words, "hereditary nonpolyposis colorectal cancer," "HNPCC," "Lynch syndrome," "Muir Torre syndrome," "Turcot syndrome," and "gene/genetic testing." In addition, a search was conducted using references from all retrieved reports, review articles, and textbook chapters. Publications were retrieved, and the authors synthesized and assessed the quality of the available data with respect to topicality and timeliness. Differences among reviewers concerning inclusions were resolved by consensus. Editorials and letters to the editors were excluded from this review.

Levels of Evidence

A variety of different types of publications were reviewed, including randomized controlled trials, retrospective and prospective observational cohorts, and population-based and case-control studies. The strength of the evidence from these sources was rated according to the National Cancer Institute levels of evidence for cancer genetic studies (Table 1).[14]

In addition, a well-accepted rating of evidence, Grades of Recommendation, Assessment, Development, and Evaluation (GRADE), which relies on expert consensus about whether new research is likely to change the confidence level (CL) of the recommendation was also utilized for evaluation of LS interventions (Table 2).[15]


The Multi-Society Task Force is composed of gastroenterology specialists with a special interest in CRC, representing the following major gastroenterology professional organizations: American College of Gastroenterology, American Gastroenterological Association Institute, and the American Society for Gastrointestinal Endoscopy. Also, experts on LS from academia and private practice were invited authors of this guideline. Representatives of the Collaborative Group of the Americas on Inherited Colorectal Cancer and the American Society of Colon and Rectal Surgeons also reviewed this manuscript. In addition to the Task Force and invited experts, the practice committees and Governing Boards of the American Gastroenterological Association Institute, American College of Gastroenterology, American Society for Gastrointestinal Endoscopy reviewed and approved this document.