Neoplasias endocrinas múltiples: un modelo clínico para aplicar técnicas de genética molecular

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 responsable for MEN 1 belongs to the family of tumor suppressor genes and encodes...

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Autores principales:	Wohllk G,Nelson, Becker C,Pedro, Véliz L,Jesús, Pineda V,Gustavo
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2000
Materias:	Genetics, biochemical Molecular biology Multiple endocrine neoplasia Mutation
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872000000700014
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spelling	oai:scielo:S0034-988720000007000142000-09-01Neoplasias endocrinas múltiples: un modelo clínico para aplicar técnicas de genética molecularWohllk G,NelsonBecker C,PedroVéliz L,JesúsPineda V,Gustavo Genetics, biochemical Molecular biology Multiple endocrine neoplasia Mutation 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 responsable 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 (Rev Méd Chile 2000; 128: 811-20).info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.128 n.7 20002000-07-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872000000700014es10.4067/S0034-98872000000700014
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Genetics, biochemical Molecular biology Multiple endocrine neoplasia Mutation
spellingShingle	Genetics, biochemical Molecular biology Multiple endocrine neoplasia Mutation Wohllk G,Nelson Becker C,Pedro Véliz L,Jesús Pineda V,Gustavo Neoplasias endocrinas múltiples: un modelo clínico para aplicar técnicas de genética molecular
description	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 responsable 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 (Rev Méd Chile 2000; 128: 811-20).
author	Wohllk G,Nelson Becker C,Pedro Véliz L,Jesús Pineda V,Gustavo
author_facet	Wohllk G,Nelson Becker C,Pedro Véliz L,Jesús Pineda V,Gustavo
author_sort	Wohllk G,Nelson
title	Neoplasias endocrinas múltiples: un modelo clínico para aplicar técnicas de genética molecular
title_short	Neoplasias endocrinas múltiples: un modelo clínico para aplicar técnicas de genética molecular
title_full	Neoplasias endocrinas múltiples: un modelo clínico para aplicar técnicas de genética molecular
title_fullStr	Neoplasias endocrinas múltiples: un modelo clínico para aplicar técnicas de genética molecular
title_full_unstemmed	Neoplasias endocrinas múltiples: un modelo clínico para aplicar técnicas de genética molecular
title_sort	neoplasias endocrinas múltiples: un modelo clínico para aplicar técnicas de genética molecular
publisher	Sociedad Médica de Santiago
publishDate	2000
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872000000700014
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Neoplasias endocrinas múltiples: un modelo clínico para aplicar técnicas de genética molecular

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