Turcot syndrome

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Turcot syndrome
OMIM 276300
DiseasesDB 29793
eMedicine ped/828 

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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.[2] 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

  1. Turcot J, Després JP, St. Pierre F. Malignant tumors of the central nervous system associated with familial polyposis of the colon: report of two cases. Dis Col Rect 1959;2:465-468. PMID 13839882.
  2. Fauci,et al Harrison's Principle of Internal Medicine 16th Ed. p 2453

de:Turcot-Syndrom



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