Clinical use of molecular information in the management of multiple endocrine neoplasia type 2A.
International Workshop on multiple endocrine neoplasia (MEN). Stockholm SWE, 1994/06/29.
One hundred and ninety-seven members of 28 kindreds with multiple endocrine neoplasia type 2A (MEN 2A) were screened for RET proto-oncogene exon 10 and 11 mutations.
Seventy-one known affected individuals had mutations of codons 609,618,620 or 634, whereas 53 unaffected individuals had no abnormalities.
Nineteen out of 54 individuals of unknown status, mostly children, had RET mutations.
Four of these children had thyroidectomy based on this analysis and were found to have C-cell abnormalities.
We identified one false negative mutation analysis because of a codon 691 polymorphism.
We conclude that RET mutational analysis is a cost-effective and accurate method for determination of gene carrier status in MEN 2A.
Mots-clés Pascal : Polyadénomatose endocrinienne II, Gène onc, Mutation, Coût, Etats Unis, Amérique du Nord, Amérique, Dépistage, Homme, Tumeur maligne, Endocrinopathie, Maladie héréditaire, Génétique, Biologie moléculaire, Gène onc RET
Mots-clés Pascal anglais : Multiple endocrine neoplasia type II, Onc gene, Mutation, Costs, United States, North America, America, Medical screening, Human, Malignant tumor, Endocrinopathy, Genetic disease, Genetics, Molecular biology
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 96-0014630
Code Inist : 002B21G. Création : 01/03/1996.