Article
Multiple endocrine neoplasia type 2A in two families with the familial medullary thyroid carcinoma associated G533C mutation of the RET proto-oncogene.
European journal of endocrinology - 1 Dec 2008
Peppa Melpomeni, Boutati Eleni, Kamakari Smaragda, Pikounis Vasilios, Peros George, Panayiotides Ioannis G, Economopoulos Theofanis, Raptis Sotirios A, Hadjidakis Dimitrios
Abstract excerpt
INTRODUCTION: Multiple endocrine neoplasia type 2A (MEN2A) is an autosomal dominant hereditary disorder, associated with a cluster of germline gain-of-function mutations of the RET proto-oncogene (RET), mainly in exons 10-15. The G533C mutation in exon 8 of the RET is rare and has been mainly related to the familial medullary thyroid carcinoma. PATIENTS-METHODS: We describe the RET G533C mutation in exon 8 of the...
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- Adult
- Aged
- Aged, 80 and over
- Amino Acid Substitution
- Carcinoma, Medullary