| Update multiple endocrine neoplasia type 2. | |
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MedLine Citation:
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PMID: 20087666 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Multiple endocrine neoplasia type 2 (MEN2) is a autosomal dominat inherited tumour-syndrome caused by germline activating mutations of the RET proto-oncogene on chromosome 10. It is clinically characterized by the presence of medullary thyroid carcinoma (MTC), bilateral pheochromocytoma and primary hyperparathyroidism (MEN2A) within a single patient. Three distinct clinical forms have been described depending on the phenotype: the classical MEN 2A, MEN 2B, an association of MTC, pheochromocytoma and mucosal neuroma, (FMTC) familial MTC with a low incidence of other endocrinopathies. Each variant of MEN2 results from different RET gene mutation, with a good genotype phenotype correlation. Genetic testing detects nearly 100% of mutation carriers and is considered the standard of care for all first degree relatives of patients with newly diagnosed MTC. Recommendations on the timing of prophylactic thyroidectomy and extent of surgery are based on a classification into four risk levels utilizing the genotype-phenotype correlations. MEN 2 gives a unique model for early prevention and cure of cancer and for stratified roles of mutation-based diagnosis of carriers. |
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Authors:
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Friedhelm Raue; Karin Frank-Raue |
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Publication Detail:
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Type: Journal Article; Review |
Journal Detail:
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Title: Familial cancer Volume: 9 ISSN: 1573-7292 ISO Abbreviation: Fam. Cancer Publication Date: 2010 Sep |
Date Detail:
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Created Date: 2010-08-16 Completed Date: 2010-12-02 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 100898211 Medline TA: Fam Cancer Country: Netherlands |
Other Details:
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Languages: eng Pagination: 449-57 Citation Subset: IM |
Affiliation:
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Endocrine Practice, Heidelberg, Germany. friedhelm.raue@raue-endokrinologie.de |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Genetic Association Studies* Humans Multiple Endocrine Neoplasia Type 2a / classification*, genetics*, pathology* Risk Factors |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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