Turcot syndrome


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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.Turcot J, Despr├ęs 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.The genetic basis of Turcot syndrome is uncertain.The gene most likely to be involved is APC gene in chromosome 5q.Fauci,et al Harrisons Principle of Internal Medicine'' 16th Ed. p 2453 However, the syndrome has been claimed to be linked to various mutations in a number of genes. For example, the mismatch repair genes MLH1 () or PMS2 ().

Synonyms

  • Brain tumor-polyposis syndrome
  • Glioma-polyposis syndrome



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