Lynch syndrome 4

MONDO:0013699

An autosomal dominant hereditary neoplastic caused by pathogenic variants in the PMS2 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.

Also known as: PMS2 hereditary nonpolyposis colon cancer, PMS2-related Lynch syndrome, colorectal cancer, hereditary nonpolyposis, type 4, hereditary nonpolyposis colon cancer caused by mutation in PMS2, HNPCC4

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