Topic Highlight
Copyright ©The Author(s) 2015. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Gastroenterol. Aug 21, 2015; 21(31): 9253-9261
Published online Aug 21, 2015. doi: 10.3748/wjg.v21.i31.9253
Lynch syndrome and Lynch syndrome mimics: The growing complex landscape of hereditary colon cancer
John M Carethers, Elena M Stoffel
John M Carethers, Elena M Stoffel, Division of Gastroenterology, Department of Internal Medicine, University of Michigan, Ann Arbor, MI 48109-5368, United States
John M Carethers, Elena M Stoffel, Comprehensive Cancer Center, University of Michigan, Ann Arbor, MI 48109-5368, United States
Author contributions: Both authors contributed to this manuscript.
Supported by The United States Public Health Service (DK067287 and CA162147); and the A. Alfred Taubman Medical Research Institute of the University of Michigan.
Conflict-of-interest statement: No potential conflicts of interest are disclosed. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Correspondence to: John M Carethers, MD, Division of Gastroenterology, Department of Internal Medicine, University of Michigan, 1500 E. Medical Center Drive, Ann Arbor, MI 48109-5368, United States. jcarethe@umich.edu
Telephone: +1-734-6151717 Fax: +1-734-6152645
Received: May 9, 2015
Peer-review started: May 12, 2015
First decision: June 2, 2015
Revised: June 13, 2015
Accepted: July 8, 2015
Article in press: July 8, 2015
Published online: August 21, 2015
Core Tip

Core tip: Clinical criteria and phenotypic presentation of patients and families with hereditary non-polyposis colorectal cancer (HNPCC) do not adequately differentiate the several genetic diseases now classified under HNPCC. Tumor analysis for microsatellite instability (MSI) can dichotomize for the clinician conditions with MSI or without MSI, allowing a focused differential diagnosis. Individual or panel germline genetic testing can further differentiate HNPCC into its genetically defined syndromes or its phenocopies.