Turcot syndrome

Pronunciation

Definition 1

A rare, inherited disorder in which polyps (abnormal growths of tissue) form on the inside walls of the colon and rectum, and tumors form in the brain. There are two types of Turcot syndrome, which are caused by mutations (changes) in different genes. People with Turcot syndrome have a higher-than-normal risk of colorectal cancer and brain cancer, especially glioblastoma and medulloblastoma. (NCI Dictionary)

Definition 2

An autosomal dominant hereditary neoplastic syndrome caused by mutations in the PMS2, MLH1, MSH2, or APC genes. There are two types described, type 1, characterized by the presence of glioblastoma and often associated with hereditary nonpolyposis colorectal carcinoma, and type 2, characterized by the presence of medulloblastoma and familiar adenomatous polyposis. (NCI Thesaurus)

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