Emergence of medullary thyroid carcinoma in a family with the Cys630Arg RET germline mutation
✍ Scribed by Andreas Machens; Ulrich Schneyer; Hans-Jürgen Holzhausen; Friedhelm Raue; Henning Dralle
- Book ID
- 113919800
- Publisher
- Elsevier Science
- Year
- 2004
- Tongue
- English
- Weight
- 198 KB
- Volume
- 136
- Category
- Article
- ISSN
- 0039-6060
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The multiple endocrine neoplasia type 2 (MEN2) syndromes and Hirschsprung's disease (HSCR) are inherited neurocristopathies characterized by medullary thyroid carcinoma (MTC), pheochromocytoma, parathyroid disease, and gastrointestinal neuromatosis. Mutations in the RET proto-oncogene are the underl
Medullary thyroid carcinoma (MTC) occurs sporadically or as part of the inherited cancer syndrome multiple endocrine neoplasia (MEN) type 2. In MEN 2A, germline missense mutations are found in one of five cysteine codons within exons 10 and I I in the extracellular domain of the RET protooncogene. I