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Lynch syndrome 5
rareAn autosomal dominant hereditary neoplastic syndrome caused by pathogenic variants in the MSH6 mismatch repair gene. It is characterized by an increased risk of colorectal cancer in the absence of extensive polyposis, endometrial, ovarian, gastric, small intestinal, and urinary tract cancers, often occuring at younger ages.
- Identifiers
- MONDO:0013710 OMIM:614350
- Causal genes
- MSH6
- Part of
- Lynch syndrome
- Also known as
- colorectal cancer, hereditary nonpolyposis, type 5 · hereditary nonpolyposis colon cancer caused by mutation in MSH6 · HNPCC5 · MSH6 hereditary nonpolyposis colon cancer · MSH6-related Lynch Syndrome
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