Open AccessMultiple endocrine neoplasia type 2A in two families with the familial medullary thyroid carcinoma associated G533C mutation of the RET proto-oncogene
Author(s) -
Μelpomeni Peppa,
Eleni Boutati,
Smaragda Kamakari,
Vasilios Pikounis,
George Peros,
Ioannis G. Panayiotides,
Theofanis Economopoulos,
S. Raptis,
Dimitrios Hadjidakis
Publication year - 2008
Publication title -
european journal of endocrinology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.897
H-Index - 148
eISSN - 1479-683X
pISSN - 0804-4643
DOI - 10.1530/eje-08-0476
Subject(s) - ret proto oncogene , multiple endocrine neoplasia type 2 , thyroid carcinoma , exon , multiple endocrine neoplasia , medullary carcinoma , mutation , pheochromocytoma , germline mutation , medullary cavity , medicine , proto oncogene proteins c ret , thyroid , medullary thyroid cancer , endocrinology , cancer research , pathology , biology , genetics , gene , receptor , neurotrophic factors , glial cell line derived neurotrophic factor
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.
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