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,1 John I. Allen,2 Jennifer E. Axilbund,1 C. Richard Boland,3 Carol A. Burke,4 Randall W. Burt,5 James M. Church,4 Jason A. Dominitz,6,7 David A. Johnson,8 Tonya Kaltenbach,9 Theodore R. Levin,10 David A. Lieberman,11 Douglas J. Robertson,12,13 Sapna Syngal,14-16 and Douglas K. Rex,17

1Johns Hopkins University School of Medicine, Baltimore, Maryland, USA; 2Yale University School of Medicine, New Haven, Connecticut, USA; 3Baylor University Medical Center, Dallas, Texas, USA; 4Cleveland Clinic, Cleveland, Ohio, USA; 5University of Utah, Salt Lake City, Utah, USA; 6VA Puget Sound Health Care System, Seattle, Washington, USA; 7University of Washington, Seattle, Washington, USA; 8Eastern Virginia Medical School, Norfolk, Virginia, USA; 9Stanford University, Palo Alto, California, USA; 10Kaiser Permanente Medical Center, Walnut Creek, California, USA; 11Oregon Health and Science University, Portland, Oregon, USA; 12White River Junction VA Medical Center, White River Junction, Vermont, USA; 13Geisel School of Medicine at Dartmouth, White River Junction, Vermont, USA; 14Brigham and Women’s Hospital, Boston, Massachusetts, USA; 15Dana Farber Cancer Institute, Boston, Massachusetts, USA; 16Harvard Medical School, Boston, Massachusetts, USA; 17Indiana University School of Medicine, Indianapolis, Indiana, USA.

Am J Gastroenterol advance online publication, 29 July 2014; doi: 10.1038/ajg.2014.186

Correspondence:Francis M. Giardiello, MD, 1830 East Monument Street, Room 431, Baltimore, Maryland 21205, USA . E-mail: fgiardi@jhmi.edu

Abstract

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.

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