Lynch syndrome 1
Findings
No curated finding names Lynch syndrome 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal dominant hereditary neoplastic syndrome caused by pathogenic variants in the MSH2 mismatch repair gene. It is characterized by an increased risk of colorectal cancer in the absense of extensive polyposis, endometrial, ovarian, gastric, small intestinal, and urinary tract cancers, often occuring at younger ages.
Definition from the Mondo Disease Ontology (MONDO:0007356), read 2026-09-29. CC BY 4.0.
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
- A kind of
Other names
7 names
Resolves to: Lynch syndrome 1
- Also called
- familial non-polyposis colon cancer type 1Hereditary non-polyposis colon cancer type 1hereditary nonpolyposis colorectal cancer type 1HNPCC1Lynch 1 syndromeLynch syndrome type 1MSH2-related Lynch syndrome