Identification of Lynch Syndrome - 17/11/21

Doi : 10.1016/j.giec.2021.09.002

Jennifer K. Maratt, MD, MS ^a,^b,^c,^⁎ , Elena Stoffel, MD, MPH ^d,^e
^a Division of Gastroenterology and Hepatology, Indiana University School of Medicine, 1101 West Tenth Street, Indianapolis, IN 46202, USA
^b Richard L. Roudebush Veterans Affairs Medical Center, Indianapolis, IN, USA
^c Regenstrief Institute, Inc, Indianapolis, IN, USA
^d Division of Gastroenterology, Department of Internal Medicine, University of Michigan, 1500 East Medical Center Drive, Ann Arbor, MI 48109, USA
^e Rogel Cancer Center, Ann Arbor, MI, USA

^∗Corresponding author. 1101 West Tenth Street, Indianapolis, IN 46032.1101 West Tenth StreetIndianapolisIN46032

Résumé

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.

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Keywords : Lynch syndrome, Hereditary colorectal cancer syndrome, Mismatch repair, Hereditary nonpolyposis colorectal cancer