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Review
. 2022 Jan;32(1):45-58.
doi: 10.1016/j.giec.2021.09.002.

Identification of Lynch Syndrome

Jennifer K Maratt  1 , Elena Stoffel  2
Affiliations
Review

Identification of Lynch Syndrome

Jennifer K Maratt et al. Gastrointest Endosc Clin N Am. 2022 Jan.

Abstract

Lynch syndrome (LS) is an autosomal dominant hereditary cancer syndrome caused by pathogenic germline variants (PGV) in any of the 4 DNA mismatch repair (MMR) genes, MLH1, MSH2, MSH6, and PMS2, or deletions in EPCAM. LS leads to an increased risk of intestinal and extraintestinal cancers, of which colorectal and endometrial cancers are the most common. Individuals at risk for LS can be identified by using clinical criteria, prediction models, and universal tumor testing. Understanding each of these tools, including limitations and mimics of LS, is essential to the early identification of at-risk individuals.

Keywords: Hereditary colorectal cancer syndrome; Hereditary nonpolyposis colorectal cancer; Lynch syndrome; Mismatch repair.

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Conflict of interest statement

Disclosure Dr. Maratt receives support from Grant Number UL1TR002529 from the National Institutes of Health (NIH), National Center for Advancing Translational Sciences, Clinical and Translational Sciences Award. The views expressed in this manuscript do not reflect views of the NIH.

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