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Lynch syndrome 1
rareAn 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.
- Identifiers
- MONDO:0007356 OMIM:120435
- Causal genes
- MSH2
- Part of
- Lynch syndrome
- Also known as
- COCA1 · familial non-polyposis colon cancer type 1 · Hereditary non-polyposis colon cancer type 1 · hereditary nonpolyposis colorectal cancer type 1 · HNPCC1
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