Turcot syndrome

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.

The genetic basis of Turcot syndrome is uncertain.The gene most likely to be involved is APC gene in chromosome 5q. 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

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