[Genetic screening of multiple endocrine neoplasia type 2: experience of the USP Endocrine Genetics Unit]. / Rastreamento gênico da neoplasia endócrina múltipla tipo 2: experiência da Unidade de Endocrinologia Genética da USP.
Arq Bras Endocrinol Metabol
; 50(1): 7-16, 2006 Feb.
Article
em Pt
| MEDLINE
| ID: mdl-16628270
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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Base de dados:
MEDLINE
Assunto principal:
Neoplasias da Glândula Tireoide
/
Testes Genéticos
/
Carcinoma Medular
/
Neoplasia Endócrina Múltipla Tipo 2a
/
Proteínas Proto-Oncogênicas c-ret
/
Mutação
Idioma:
Pt
Ano de publicação:
2006
Tipo de documento:
Article