Turcot syndrome

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Turcot syndrome
Classification and external resources
OMIM 276300
DiseasesDB 29793
eMedicine ped/828 

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Turcot syndrome

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Overview

Turcot syndrome is the association between familial adenomatous polyposis and brain tumors like medulloblastoma, malignant glioma. It was first reported by Canadian surgeon Jacques Turcot (1914- ) et al in 1959 and hence carries the first author's name.[1]

The genetic basis of Turcot syndrome is uncertain.The gene most likely to be involved is APC gene in chromosome 5q.[1] However, the syndrome has been claimed to be linked to various mutations in a number of genes. For example, the mismatch repair genes MLH1 (Online 'Mendelian Inheritance in Man' (OMIM) 120436) or PMS2 (Online 'Mendelian Inheritance in Man' (OMIM) 600259).

Synonyms

  • Brain tumor-polyposis syndrome
  • Glioma-polyposis syndrome

See also

  • Gardner syndrome is an association of hereditary intestinal polyps and osteomas.

External link

Reference


de:Turcot-Syndrom

fr:Syndrome de Turcot

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Acknowledgement and Attribution Regarding Sources of Content

Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .

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