Blog
About

12
views
0
recommends
+1 Recommend
0 collections
    1
    shares
      • Record: found
      • Abstract: found
      • Article: not found

      A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma.

      Nature

      Carcinoma, Medullary, Base Sequence, genetics, enzymology, Thyroid Neoplasms, Receptor Protein-Tyrosine Kinases, Proto-Oncogenes, Proto-Oncogene Proteins c-ret, Proto-Oncogene Proteins, Polymorphism, Genetic, Polymerase Chain Reaction, Point Mutation, Phenotype, Multiple Endocrine Neoplasia, Molecular Sequence Data, Male, Humans, Female, Exons, Drosophila Proteins, DNA Primers, Codon

      Read this article at

      ScienceOpenPublisherPubMed
      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Abstract

          Multiple endocrine neoplasia type 2 (MEN 2) comprises three clinically distinct, dominantly inherited cancer syndromes. MEN 2A patients develop medullary thyroid carcinoma (MTC) and phaeochromocytoma. MEN 2B patients show in addition ganglioneuromas of the gastrointestinal tract and skeletal abnormalities. In familial MTC, only the thyroid is affected. Germ-line mutations of the RET proto-oncogene have recently been reported in association with MEN 2A and familial MTC. All mutations occurred within codons specifying cysteine residues in the transition point between the RET protein extracellular and transmembrane domains. We now show that MEN 2B is also associated with mutation of the RET proto-oncogene. A mutation in codon 664, causing the substitution of a threonine for a methionine in the tyrosine kinase domain of the protein, was found in all nine unrelated MEN 2B patients studied. The same mutation was found in six out of 18 sporadic tumours.

          Related collections

          Author and article information

          Journal
          7906866
          10.1038/367375a0

          Comments

          Comment on this article