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.
MONDO:0000426
autosomal dominant disease
is_a
MONDO:0018630
hereditary nonpolyposis colon cancer
is_a
Hereditary colorectal endometrial cancer syndrome
exact
Hereditary non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)
exact
Hereditary nonpolyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)
exact
Lynch syndrome
exact
familial non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)
exact
hereditary defective mismatch repair syndrome
exact
SPCC285.16c SPAC19G12.02c SPBC1703.04 SPBC19G7.01c