Medical Definition of Turcot syndrome

  • Medical Author:
    Melissa Conrad Stöppler, MD

    Melissa Conrad Stöppler, MD, is a U.S. board-certified Anatomic Pathologist with subspecialty training in the fields of Experimental and Molecular Pathology. Dr. Stöppler's educational background includes a BA with Highest Distinction from the University of Virginia and an MD from the University of North Carolina. She completed residency training in Anatomic Pathology at Georgetown University followed by subspecialty fellowship training in molecular diagnostics and experimental pathology.

Reviewed on 10/30/2018

Turcot syndrome: A genetic disease characterized by polyps in the colon (large intestine) in addition to tumors in the brain. The polyps in the colon tend to become malignant. The brain tumors are also malignant. Skin abnormalities can also occur. Turcot syndrome is inherited in an autosomal recessive manner and can result from mutations in either the adenomatous polyposis coli (APC) gene or the mismatch repair genes underlying the syndrome of hereditary nonpolyposis colon cancer (HNPCC).

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Reviewed on 10/30/2018