Turcot syndrome

Common Name(s)

Turcot syndrome

Turcot syndrome is a genetic condition that causes the formation of non-cancerous (benign) growths (polyps) to form in the body. These polyps can become cancerous over time if left untreated. In addition to the polyps, which usually develop in the colon, people with Turcot syndrome are also at risk for cancerous tumors in the brain. The two most common types of brain cancer in Turcot syndrome are tumors found in the back of the brain (medulloblastomas) and tumors found in the brain and spine (glioblastomas). Turcot syndrome is similar to two other genetic conditions that also increase the risk for colon polyps and brain cancer: Lynch syndrome, which can also cause glioblastomas, and familial adenomatous polyposis (FAP), which can also increase the risk of medulloblastomas.

Turcot syndrome is caused by changes (mutations) in genes that are important in the repair of DNA damage, called mismatch repair genes. Turcot syndrome that is similar to Lynch syndrome is caused by mutations in the MLH1 and PMS2 genes. Turcot syndrome that is similar to FAP is caused by a mutation in the APC gene. No matter which gene has the mutation, all forms of Turcot syndrome are inherited in an autosomal dominant way, meaning a mutation in only one of the two gene copies a person has is enough to cause the condition.

The diagnosis of Turcot syndrome is considered in a person with numerous colon polyps along with one of the brain related cancers listed above. Genetic testing is used to confirm the diagnosis. Treatment depends on the type of cancer a person has, but usually includes removal of polyps before they become cancerous. If your child has been diagnosed with Turcot syndrome, talk to their doctor about a plan to identify polyps and cancer at an early stage. Meeting with a genetic counselor may be helpful to determine who else in the family is at risk for the condition. Support groups can provide additional information.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

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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.

 

 

General Support Organizations

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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: 31 Dec 1969

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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: 31 Dec 1969

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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: 31 Dec 1969

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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: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Pilot Study of Nivolumab in Pediatric Patients With Hypermutant Cancers
 

Status: Recruiting

Condition Summary: Refractory or Recurrent Hypermutated Malignancies; Biallelic Mismatch Repair Deficiency (bMMRD) Positive Patients

 

Last Updated: 4 Apr 2017

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Combination Chemotherapy, Bevacizumab, and/or Atezolizumab in Treating Patients With Deficient DNA Mismatch Repair Metastatic Colorectal Cancer
 

Status: Recruiting

Condition Summary: Colorectal Adenocarcinoma; Mismatch Repair Deficiency; Stage IV Colorectal Cancer AJCC v7; Stage IVA Colorectal Cancer AJCC v7; Stage IVB Colorectal Cancer AJCC v7

 

Last Updated: 11 Dec 2017

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Pembrolizumab in Treating Younger Patients With Recurrent, Progressive, or Refractory High-Grade Gliomas, Diffuse Intrinsic Pontine Gliomas, or Hypermutated Brain Tumors
 

Status: Recruiting

Condition Summary: Constitutional Mismatch Repair Deficiency Syndrome; Lynch Syndrome; Malignant Glioma; Recurrent Brain Neoplasm; Recurrent Diffuse Intrinsic Pontine Glioma; Refractory Brain Neoplasm; Refractory Diffuse Intrinsic Pontine Glioma

 

Last Updated: 11 Dec 2017

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