PMID: 16628270Apr 22, 2006Paper

Genetic screening of multiple endocrine neoplasia type 2: experience of the USP Endocrine Genetics Unit

Arquivos brasileiros de endocrinologia e metabologia
Marcelo A C G dos SantosSergio Pereira de Almeida Toledo

Abstract

Multiple endocrine neoplasia type 2 (MEN-2) is an inherited tumor syndrome that includes medullary thyroid carcinoma (MTC), primary hyperparathyroidism, pheochromocytoma and other non-endocrine diseases. Since the first RET missense mutations in association with MEN-2 were identified, RET mutation analysis had a great impact in the clinical management of MEN-2, such as in early diagnosis and treatment of MTC. Presently, early total thyroidectomy provides real cure of MTC for cases in which molecular diagnosis has been performed at early ages. After RET mutation identification, family members should be screened for this mutation by using methods as DGGE, SSCP, restriction enzyme, genetic sequencing or mini-sequencing. In this paper, we briefly review our experience with the direct RET gene sequencing and DGGE approaches. In 50 typical MEN-2 patients analyzed using both methods, we found no false results suggesting that DGGE is a reliable screening method for RET proto-oncogene mutation analysis.

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Citations

Feb 18, 2014·Endocrine-related Cancer·Tomoko SekiyaRodrigo A Toledo

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