Lynch syndrome 1

MONDO:0007356

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.

Also known as: HNPCC1, Hereditary non-polyposis colon cancer type 1, Lynch 1 syndrome, Lynch syndrome 1, Lynch syndrome type 1, MSH2-related Lynch syndrome, familial non-polyposis colon cancer type 1, hereditary nonpolyposis colorectal cancer type 1

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