Lynch syndrome

An autosomal dominant hereditary neoplastic syndrome characterized by the development of colorectal carcinoma and a high risk of developing endometrial carcinoma, gastric carcinoma, ovarian carcinoma, renal pelvis carcinoma, and small intestinal carcinoma. Patients often develop colorectal carcinomas at an early age (mean, 45 years). In the majority of the cases the lesions arise from the proximal colon. At the molecular level, high-frequency microsatellite instability is present.

Disease Alternative Name

hereditary non-polyposis colon cancer (hmsh2
hmlh1
hpms1
hpms2)
familial non-polyposis colon cancer (hmsh2
hereditary nonpolyposis colon cancer (hmsh2
hereditary defective mismatch repair syndrome
hereditary colorectal endometrial cancer syndrome
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