Lynch Syndrome

Written By Yuriko Beaman

Lynch Syndrome is an inherited cancer predisposition syndrome caused by variants in one of 5 genes, MLH1, MSH2, MSH6, PMS2, and EPCAM. It is associated with an increased risk for colorectal cancer, endometrial cancer, ovarian cancer, stomach cancer and others. It was previously called Hereditary Non-Polyposis Colorectal Cancer (HNPCC). This is an autosomal dominant condition.

Genetic testing for this condition is frequently included in multi-gene cancer panels. Four of the Lynch syndrome genes are also included in ACMG’s secondary finding list (EPCAM is not included). In addition to genetic testing, pathology that indicates MisMatch Repair deficiency or high Micro-Satelliete Instability on tumor testing can also lead to diagnosis of Lynch syndrome.

Per the National Comprehensive Cancer Network*, the following are some of the cancers associated with Lynch syndrome:

  • Colorectal

  • Endometrial

  • Gastric

  • Ovarian

  • Pancreatic

  • Urothelial

  • Brain (usually glioblastoma)

  • Bilary tract and small intestine

*Please see NCCN for the full and complete list (free registration required) and management recommendations.

A video on Lynch syndrome for clinicians and students can be found at https://youtu.be/TYr2xZ1zllY?si=6DwJJqLqMxfHxUTQ


Facing Hereditary Cancer Empowered (FORCE) has supportive patient resources on Lynch syndrome: https://www.facingourrisk.org/info/hereditary-cancer-and-genetic-testing/genes-by-syndrome#lynch

Yuriko Beaman
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