Turcot syndrome

Disease Overview

Turcot syndrome is a condition characterized by multiple adenomatous colon polyps, an increased risk of colorectal cancer, and an increased risk of brain cancer. It may be associated with familial adenomatous polyposis (FAP) or Lynch syndrome (also known as hereditary non-polyposis colorectal cancer or HNPCC). The molecular basis of most Turcot syndrome is either a mutation in APC associated with FAP or a mutation in one of the mismatch repair genes associated with Lynch syndrome (MLH1 and PMS2). The brain tumors in individuals with APC mutations are typically medulloblastoma, whereas those with mismatch repair mutations are usually glioblastoma multiforme.[5425][5426] Turcot syndrome typically follows an autosomal dominant inheritance pattern.[5425]

Synonyms

• Malignant tumors of the central nervous system associated with familial polyposis of the colon
• CNS tumors with Familial polyposis of the colon
• Mismatch Repair Cancer Syndrome
• MMRCS
• Mismatch Repair Deficiency
• MMR Deficiency
• Brain tumor-polyposis syndrome
• Glioma-polyposis syndrome