Turcot syndrome

Common Name(s)

Turcot syndrome

Turcot syndrome is a condition characterized by multiple adenomatous colon polyps, an increased risk of colorectal cancer, and an increased risk of brain cancer. It may be associated with familial adenomatous polyposis (FAP) or Lynch syndrome (also known as hereditary non-polyposis colorectal cancer or HNPCC). The molecular basis of most Turcot syndrome is either a mutation in APC associated with FAP or a mutation in one of the mismatch repair genes associated with Lynch syndrome (MLH1 and PMS2). The brain tumors in individuals with APC mutations are typically medulloblastoma, whereas those with mismatch repair mutations are usually glioblastoma multiforme. Turcot syndrome typically follows an autosomal dominant inheritance pattern.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Turcot syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Turcot syndrome" returned 9 free, full-text research articles on human participants. First 3 results:

Muir-Torre Syndrome / Turcot Syndrome overlap? A patient with sebaceous carcinoma, colon cancer, and a malignant astrocytoma.
 

Author(s): Rebecca Kleinerman, John Marino, Emmanuel Loucas

Journal:

 

The Muir-Torre Syndrome is characterized by the clinical constellation of sebaceous neoplasms, keratoacanthomas, and internal malignancies caused by a defect in DNA mismatch repair. Another mismatch repair defect causes Turcot syndrome, which manifests with colorectal and central ...

Last Updated: 28 May 2012

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[Turcot syndrome: a case report].
 

Author(s): R Sanou, R Anxionnat, L Taillandier, M A Bigard, D Regent, S Bracard

Journal: J Radiol. ;90(7-8 Pt 1):842-4.

 

Last Updated: 15 Sep 2009

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Type A microsatellite instability in pediatric gliomas as an indicator of Turcot syndrome.
 

Author(s): Laura Giunti, Valentina Cetica, Ugo Ricci, Sabrina Giglio, Iacopo Sardi, Milena Paglierani, Elena Andreucci, Massimiliano Sanzo, Marco Forni, Anna Maria Buccoliero, Lorenzo Genitori, Maurizio Genuardi

Journal: Eur. J. Hum. Genet.. 2009 Jul;17(7):919-27.

 

Microsatellite instability (MSI) is present in hereditary conditions due to mismatch repair (MMR) gene mutations. Following MSI analysis, tumor samples are classified into MSS (stable), MSI-L (low instability), and MSI-H (high instability) based on the fraction of unstable loci. Another ...

Last Updated: 18 Jun 2009

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Turcot syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

[Turcot syndrome. Rare observation and literature review].
 

Author(s): S S Ozerov, I V Zakharov, S R Talypov, D M Konovalov, A N Kisliakov, D Iu Kachanov, O G Zheludkova, S R Varfolomeeva, V E Rachkov

Journal: Zh Vopr Neirokhir Im N N Burdenko. 2013 ;77(3):49-53; discussion 53.

 

The Turcot syndrome is a rare disease which is characterized by a combination of a brain tumor with a y at which the neoplasm of the colon. About 150 of such observations are described in world literature. Our own observation and a literature review are presented in this article.

Last Updated: 22 Jul 2013

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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