Turcot syndrome

A.Prof Frank Gaillard et al.

Turcot syndrome is one of the variations in polyposis syndromes.

Patients typically present in the second decade 3.

Turcot syndrome  is characterised by:

It is thought to carry an autosomal recessive inheritance. Two-thirds of patients have mutations in the APC gene, the same genetic defect as in familial adenomatous polyposis (FAP). These patients have multiple colonic adenomas, and virtually all develop colorectal carcinoma by the age of 40. The common intracranial tumour in this subtype is medulloblastoma

The other third have mutations in the HNPCC genes. Colonic malignancy is not as common in this type, but tends to develop at a younger age. Most develop glioblastomas.

It is named after Jacques Turcot, Canadian surgeon.  

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Article information

rID: 2230
Section: Syndromes
Synonyms or Alternate Spellings:
  • Turcot's syndrome

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