NCI Definition: An autosomal dominant hereditary neoplastic syndrome characterized by the development of colorectal carcinoma and a high risk of developing endometrial carcinoma, gastric carcinoma, ovarian carcinoma, renal pelvis carcinoma, and small intestinal carcinoma. Patients often develop colorectal carcinomas at an early age (mean, 45 years). In the majority of the cases the lesions arise from the proximal colon. At the molecular level, high-frequency microsatellite instability is present. [1]

Significant Genes in Lynch Syndrome

MLH1 +

MSH2 +

MSH6 +

PMS2 +

Disease Details

Familial Non-Polyposis Colon Cancer (hMSH2, hMLH1, hPMS1, hPMS2), Hereditary Non-Polyposis Colon Cancer (hMSH2, hMLH1, hPMS1, hPMS2), Hereditary Colorectal Endometrial Cancer Syndrome, Hereditary Nonpolyposis Colon Cancer (hMSH2, hMLH1, hPMS1, hPMS2), Hereditary Defective Mismatch Repair Syndrome
Autosomal Dominant Disorder
Muir-Torre Syndrome


1. National Cancer Institute. NCI Thesaurus Version 18.11d. https://ncit.nci.nih.gov/ncitbrowser/ [2018-08-28]. [2018-09-21].

2. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

3. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.