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Guidelines on Genetic Evaluation and Management of Lynch Syndrome: A Consensus Statement by the US Multi-Society Task Force on Colorectal Cancer

Giardiello, Francis M.1,*; Allen, John I.2; Axilbund, Jennifer E.1; Boland, C. Richard3; Burke, Carol A.4; Burt, Randall W.5; Church, James M.4; Dominitz, Jason A.6,7; Johnson, David A.8; Kaltenbach, Tonya9; Levin, Theodore R.10; Lieberman, David A.11; Robertson, Douglas J.12,13; Syngal, Sapna14,15,16; Rex, Douglas K.17

doi: 10.1097/DCR.000000000000000
Consensus Statement

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

* Reprint requests Address requests for reprints to: Francis M. Giardiello, MD, 1830 East Monument Street, Rm 431, Baltimore, Maryland 21205.

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

© 2014 The American Society of Colon and Rectal Surgeons