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colorectal cancer, susceptibility to, 12

Disease Summary
Associated Targets (1)
Tclin

1


Mondo Description Any colorectal cancer in which the cause of the disease is a mutation in the POLE gene.
Uniprot Description A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. CRCS12 is characterized by a high-penetrance predisposition to the development of colorectal adenomas and carcinomas, with a variable tendency to develop multiple and large tumors. Onset is usually before age 40 years. The histologic features of the tumors are unremarkable.
Mondo Term and Equivalent IDs
MONDO:0014038:  colorectal cancer, susceptibility to, 12