| PTEN hamartoma tumor syndromes. | |
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MedLine Citation:
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PMID: 18781191 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The PTEN hamartoma tumor syndromes (PHTS) are a collection of rare clinical syndromes characterized by germline mutations of the tumor suppressor PTEN. These syndromes are driven by cellular overgrowth, leading to benign hamartomas in virtually any organ. Cowden syndrome (CS), the prototypic PHTS syndrome, is associated with increased susceptibility to breast, thyroid, and endometrial cancer. PTEN is located on chromosome 10q22-23 and negatively regulates the prosurvival PI3K/Akt/mTOR pathway through its lipid phosphatase activity. Loss of PTEN activates this pathway and leads to increased cellular growth, migration, proliferation, and survival. Clinical management of patients with PHTS, particularly those with CS, should include early and frequent screening, surveillance, and preventive care for associated malignancies. Concomitant with improved understanding of the biology of PTEN and the PI3K/Akt/mTOR pathway, inhibitors of this pathway are being developed as anticancer agents. These medications could have applications for patients with PHTS, for whom no medical options currently exist. |
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Authors:
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Gideon M Blumenthal; Phillip A Dennis |
Publication Detail:
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Type: Journal Article; Review Date: 2008-09-10 |
Journal Detail:
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Title: European journal of human genetics : EJHG Volume: 16 ISSN: 1018-4813 ISO Abbreviation: Eur. J. Hum. Genet. Publication Date: 2008 Nov |
Date Detail:
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Created Date: 2008-10-23 Completed Date: 2009-07-23 Revised Date: 2009-11-19 |
Medline Journal Info:
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Nlm Unique ID: 9302235 Medline TA: Eur J Hum Genet Country: England |
Other Details:
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Languages: eng Pagination: 1289-300 Citation Subset: IM |
Affiliation:
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Medical Oncology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, MD 20892, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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1-Phosphatidylinositol 3-Kinase
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genetics,
metabolism Antineoplastic Agents / therapeutic use* Cell Movement Cell Proliferation Cell Survival Chromosomes, Human, Pair 10 / genetics, metabolism Female Hamartoma Syndrome, Multiple* / drug therapy, genetics, metabolism Humans Male Mutation* PTEN Phosphohydrolase / genetics, metabolism* Protein Kinases / genetics, metabolism Proto-Oncogene Proteins c-akt / genetics, metabolism Signal Transduction |
| Chemical | |
Reg. No./Substance:
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0/Antineoplastic Agents; EC 2.7.-/Protein Kinases; EC 2.7.1.-/mTOR protein; EC 2.7.1.137/1-Phosphatidylinositol 3-Kinase; EC 2.7.11.1/Proto-Oncogene Proteins c-akt; EC 3.1.3.48/PTEN protein, human; EC 3.1.3.67/PTEN Phosphohydrolase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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