dc.creator | Wohllk G,Nelson | |
dc.creator | Becker C,Pedro | |
dc.creator | Véliz L,Jesús | |
dc.creator | Pineda V,Gustavo | |
dc.date | 2000-07-01 | |
dc.date.accessioned | 2022-08-29T19:34:12Z | |
dc.date.available | 2022-08-29T19:34:12Z | |
dc.identifier | http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872000000700014 | |
dc.identifier.uri | https://revistaschilenas.uchile.cl/handle/2250/206079 | |
dc.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). | |
dc.format | text/html | |
dc.language | es | |
dc.publisher | Sociedad Médica de Santiago | |
dc.relation | 10.4067/S0034-98872000000700014 | |
dc.rights | info:eu-repo/semantics/openAccess | |
dc.source | Revista médica de Chile v.128 n.7 2000 | |
dc.subject | Genetics, biochemical | |
dc.subject | Molecular biology | |
dc.subject | Multiple endocrine neoplasia | |
dc.subject | Mutation | |
dc.title | Neoplasias endocrinas múltiples: un modelo clínico para aplicar técnicas de genética molecular | |