| Clinical and molecular genetics of parathyroid neoplasms. | |
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MedLine Citation:
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PMID: 20833339 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Primary hyperparathyroidism (HPT) results from the excessive secretion of parathyroid hormone from parathyroid tumours. While most HPT is sporadic, it is associated with a familial syndrome in a minority of cases. The study of these syndromes has helped define the pathophysiology of both familial and sporadic parathyroid neoplasms. Investigation of kindred with multiple endocrine neoplasia type 1 (MEN1) and the hyperparathyroidism-jaw tumour syndrome (HPT-JT) led to the discovery of the tumour suppressor genes MEN1 and HRPT2. We now recognise that somatic mutations in MEN1 and HRPT2 tumour suppressor genes are frequent events in sporadic parathyroid adenomas and carcinomas, respectively. Parathyroid tumours in the MEN2A syndrome result from mutational activation of the RET oncogene. The CCND1/PRAD1 oncogene was discovered by analysis of sporadic parathyroid tumours. Studies of familial isolated HPT and analysis of chromosomal loss and gain in parathyroid tumours suggest that other genes relevant to parathyroid neoplasia await identification. |
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Authors:
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John M Sharretts; William F Simonds |
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Publication Detail:
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Type: Journal Article; Research Support, N.I.H., Intramural; Review |
Journal Detail:
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Title: Best practice & research. Clinical endocrinology & metabolism Volume: 24 ISSN: 1532-1908 ISO Abbreviation: Best Pract. Res. Clin. Endocrinol. Metab. Publication Date: 2010 Jun |
Date Detail:
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Created Date: 2010-09-13 Completed Date: 2011-01-10 Revised Date: 2011-07-28 |
Medline Journal Info:
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Nlm Unique ID: 101120682 Medline TA: Best Pract Res Clin Endocrinol Metab Country: Netherlands |
Other Details:
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Languages: eng Pagination: 491-502 Citation Subset: IM |
Copyright Information:
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Published by Elsevier Ltd. |
Affiliation:
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Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bldg. 10 Room 8C-101, 10 Center Dr. MSC 1752 Bethesda, MD 20892-1752, USA. sharrettsj@niddk.nih.gov |
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| MeSH Terms | |
Descriptor/Qualifier:
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Female Humans Hyperparathyroidism, Primary / genetics*, pathology Male Multiple Endocrine Neoplasia Type 1 / genetics, pathology Parathyroid Hormone / genetics Parathyroid Neoplasms / genetics*, pathology Proto-Oncogene Proteins c-ret / genetics Tumor Suppressor Proteins / genetics |
| Grant Support | |
ID/Acronym/Agency:
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Z01 DK043012-06/DK/NIDDK NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/CDC73 protein, human; 0/Parathyroid Hormone; 0/Tumor Suppressor Proteins; EC 2.7.1.112/RET protein, human; EC 2.7.10.1/Proto-Oncogene Proteins c-ret |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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