Title |
Somatic VHLgene alterations in MEN2-associated medullary thyroid carcinoma
|
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Published in |
BMC Cancer, May 2006
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DOI | 10.1186/1471-2407-6-131 |
Pubmed ID | |
Authors |
Christian A Koch, Frederieke M Brouwers, Alexander O Vortmeyer, Andrea Tannapfel, Steven K Libutti, Zhengping Zhuang, Karel Pacak, Hartmut PH Neumann, Ralf Paschke |
Abstract |
Germline mutations in RET are responsible for multiple endocrine neoplasia type 2 (MEN2), an autosomal dominantly inherited cancer syndrome that is characterized by medullary thyroid carcinoma (MTC), pheochromocytoma, and parathyroid hyperplasia/adenoma. Recent studies suggest a "second hit" mechanism resulting in amplification of mutant RET. Somatic VHL gene alterations are implicated in the pathogenesis of MEN2 pheochromocytomas. We hypothesized that somatic VHL gene alterations are also important in the pathogenesis of MEN2-associated MTC. |
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