[Multiple endocrine neoplasia: a clinical model for applying molecular genetic techniques]. / Neoplasias endocrinas múltiples: un modelo clínico para aplicar técnicas de genética molecular.
Rev Med Chil
; 128(7): 791-800, 2000 Jul.
Article
em Es
| MEDLINE
| ID: mdl-11050843
Multiple endocrine neoplasias (MEN) are syndromes inherited as autosomal dominant. The application of the techniques of molecular biology has made possible the identification of the genes causing MEN 1 and 2. The gene responsible for MEN 1 belongs to the family of tumor suppressor genes and encodes for a protein named MENIN whose function remains to be elucidated. The identification of mutant MEN 1 gene carriers who are at risk of developing this syndrome requires frequent biochemical screening for the development of endocrine tumors. MEN 2 is a consequence of mutations in the Ret proto-oncogene (c-Ret). This gene encodes for a tyrosine kinase receptor thought to play a role in the development of neural crest-derived tissue. Members of kindred with either MEN 2A or MEN 2B should be screened by direct DNA testing early in life for mutations in c-Ret. Those with the mutation should be advised to have thyroidectomy at five years of age in children with MEN 2A and earlier in children with MEN 2B. Some cases of sporadic MTC are actually MEN 2A or Familial MTC after c-Ret testing is done, therefore routine application of this test is recommended in all cases of apparent sporadic MTC.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Neoplasia Endócrina Múltipla
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Marcadores Genéticos
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Proteínas de Drosophila
Tipo de estudo:
Diagnostic_studies
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Etiology_studies
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Prognostic_studies
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Risk_factors_studies
Limite:
Adult
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Child
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Child, preschool
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Humans
Idioma:
Es
Revista:
Rev Med Chil
Ano de publicação:
2000
Tipo de documento:
Article
País de publicação:
Chile