The Multi-Society Task Force, in collaboration with invited experts, developed guidelines to assist health care providers with the appropriate provision of genetic testing and management of patients at risk for and affected with Lynch syndrome as follows: Figure 1 provides a colorectal cancer risk assessment tool to screen individuals in the office or endoscopy setting; Figure 2 illustrates a strategy for universal screening for Lynch syndrome by tumor testing of patients diagnosed with colorectal cancer; Figures 3−6 provide algorithms for genetic evaluation of affected and at-risk family members of pedigrees with Lynch syndrome; Table 10 provides guidelines for screening at-risk and affected persons with Lynch syndrome; and Table 12 lists the guidelines for the management of patients with Lynch syndrome. A detailed explanation of Lynch syndrome and the methodology utilized to derive these guidelines, as well as an explanation of, and supporting literature for, these guidelines are provided.
1Johns Hopkins University School of Medicine, Baltimore, Maryland
2Yale University School of Medicine, New Haven, Connecticut
3Baylor University Medical Center at Dallas, Texas
4Cleveland Clinic, Cleveland, Ohio
5University of Utah, Salt Lake City, Utah
6VA Puget Sound Health Care System, Seattle, Washington
7University of Washington, Seattle, Washington
8Eastern Virginia Medical School, Norfolk, Virginia
9Stanford University, Palo Alto, California
10Kaiser Permanente Medical Center, Walnut Creek, California
11Oregon Health and Science University, Portland, Oregon
12White River Junction VA Medical Center, White River Junction, Vermont
13Geisel School of Medicine at Dartmouth, White River Junction, Vermont
14Brigham and Women’s Hospital, Boston, Massachusetts
15Dana Farber Cancer Institute, Boston, Massachusetts
16Harvard Medical School, Boston, Massachusetts
17Indiana University School of Medicine, Indianapolis, Indiana
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This article is being published jointly in Diseases of the Colon & Rectum, American Journal of Gastroenterology, Gastroenterology, and Gastrointestinal Endoscopy.
Conflicts of interest: These authors disclose the following: C. Richard Boland and Randall W. Burt are consultants for Myriad Genetic. Jason A. Dominitz received resources in support of this work from the VA Puget Sound Health Care System, Seattle, Washington. The views expressed in this article are those of the authors and do not necessarily represent the views of the Department of Veterans Affairs. David A. Johnson is a clinical investigator for EXACT Sciences, a consultant for Epigenomics, and on the advisory board for Given Imaging. Tonya Kaltenbach is a research grant recipient and consultant for Olympus American Inc. David A. Lieberman is on the advisory board for Given Imaging and Exact Sciences. Douglas J. Robertson is on the advisory board of Given Imaging. Sapna Syngal is an unpaid advisor/collaborator with Myriad genetics and a consultant for Archimedes, Inc. Douglas K. Rex is a consultant for Olympus America, Braintree Laboratories, Ferring Pharmaceuticals, Epigenomics, EXACT Sciences, Given Imaging, received research support from Olympus America; and is on the speaker’s bureau for Olympus America and Boston Scientific. The remaining authors disclose no conflicts.
This guideline was reviewed and approved by governing boards of the American College of Gastroenterology, the American Gastroenterological Association, the American Society for Gastrointestinal Endoscopy, and the American Society of Colon and Rectal Surgeons.
Abbreviations used in this paper: CAPP2, Colorectal/Adenoma/Carcinoma Prevention Programme; CL, confidence level; CRC, colorectal cancer; EC, endometrial cancer; FCRCTX, familial colorectal cancer type X; GRADE, Grades of Recommendation, Assessment, Development, and Evaluation; HNPCC, hereditary nonpolyposis colorectal cancer; IHC, immunohistochemistry; LS, Lynch syndrome; MMR, mismatch repair; MSI, microsatellite instability; NCCN, National Comprehensive Cancer Network