TUMOR PREDISPOSITION SYNDROME

Common Name(s)

TUMOR PREDISPOSITION SYNDROME

This tumor predisposition syndrome is inherited in an autosomal dominant pattern. Individuals carrying heterozygous BAP1 mutations are at high-risk for the development of a variety of tumors, including benign melanocytic tumors as well as several malignant tumors, including uveal melanoma ({155720}), cutaneous melanoma ({155600}), malignant mesothelioma on exposure to asbestos ({156240}), and other cancer types, such as lung adenocarcinoma, meningioma, and renal cell carcinoma (summary by {4:Wiesner et al., 2011}, {3:Testa et al., 2011}, {1:Abdel-Rahman et al., 2011}, and {2:Popova et al., 2013}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "TUMOR PREDISPOSITION 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 "TUMOR PREDISPOSITION SYNDROME" returned 2 free, full-text research articles on human participants. First 3 results:

DICER1 mutations in embryonal rhabdomyosarcomas from children with and without familial PPB-tumor predisposition syndrome.
 

Author(s): Leslie Doros, Jiandong Yang, Louis Dehner, Christopher T Rossi, Kerry Skiver, Jason A Jarzembowski, Yoav Messinger, Kris Ann Schultz, Gretchen Williams, Nicolas André, D Ashley Hill

Journal: Pediatr Blood Cancer. 2012 Sep;59(3):558-60.

 

Embryonal rhabdomyosarcoma (ERMS) is the most common childhood sarcoma and is a component of the familial pleuropulmonary blastoma (PPB)-predisposition syndrome. Using the PPB model, we hypothesized that DICER1 mutations would be found in familial and sporadic forms of ERMS. Blood ...

Last Updated: 13 Jul 2012

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Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome.
 

Author(s): Reinhard Schneppenheim, Michael C Frühwald, Stefan Gesk, Martin Hasselblatt, Astrid Jeibmann, Uwe Kordes, Markus Kreuz, Ivo Leuschner, Jose Ignacio Martin Subero, Tobias Obser, Florian Oyen, Inga Vater, Reiner Siebert

Journal: Am. J. Hum. Genet.. 2010 Feb;86(2):279-84.

 

Rhabdoid tumors of early infancy are highly aggressive with consequent poor prognosis. Most cases show inactivation of the SMARCB1 (also known as INI1 and hSNF5) tumor suppressor, a core member of the ATP-dependent SWI/SNF chromatin-remodeling complex. Familial cases, described as ...

Last Updated: 17 Feb 2010

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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 "TUMOR PREDISPOSITION SYNDROME" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Tumor and Development (TED)
 

Status: Recruiting

Condition Summary: Patient Having Developed a Cancerous Pathology and Presenting One or Several Anomalies of the Development.

 

Last Updated: 25 Jul 2014

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DICER1-related Pleuropulmonary Blastoma Cancer Predisposition Syndrome: A Natural History Study
 

Status: Recruiting

Condition Summary: Pleuropulmonary Blastoma; Cystic Nephroma; Ovarian Sertoli-Leydig Cell Tumors; Ocular Medulloepithelioma; Nasal Chondromesenchymal Hamartoma

 

Last Updated: 11 Nov 2014

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Genetic Analysis of Birt Hogg-Dube Syndrome and Characterization of Predisposition to Kidney Cancer
 

Status: Recruiting

Condition Summary: Kidney Neoplasms; Kidney Cancer; Pneumothorax; FLCN Protien, Human

 

Last Updated: 11 Nov 2014

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