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RET Proto-oncogene Mutation Analysis for Multiple Endocrine Neoplasia, Type 2
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| Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings. |
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We read with interest the article by Learoyd et al1 concerning genetic testing for multiple endocrine neoplasia, type 2 (MEN 2). We generally agree with the conclusion of this article, but hold a different opinion in regard to the following. The authors state that genetic screening for RET proto-oncogene mutations in MEN 2 is a powerful diagnostic tool and that RET mutation carriers older than 6 years of age should undergo thyroidectomy immediately.
We investigated the spectrum of RET mutations among patients with MEN 2, familial medullary thyroid carcinoma (FMTC), and sporadic medullary thyroid carcinoma (MTC).2 Mutations in nucleotide sequences encoding 1 of 3 specific cysteine residues in the extracellular domain of RET protein were found in 37 of the 38 MEN 2A families and 3 of the 4 FMTC families examined. A mutation at codon 918 was found in the germline DNA of all 5 patients with MEN 2B . . . [Full Text of this Article]
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