title: [The molecular pathology of RET protooncogene in families with multiple endocrine neoplasia type 2A].
abstract: BACKGROUND
  Multiple endocrine neoplasm type 2A (MEN 2A) is an autosomal dominantly inherited disease characterized by medullary thyroid carcinoma, pheochromocytoma and hyperparathyroidism. Mutations have been identified in the extracellular domain of the RET proto-oncogen product (10q11.2) in MEN 2A patients. In each case a single base pair substitution results in replacement of cysteine with another amino acid. Most MEN 2A patients have mutations of codon 634.
  
  
  METHODS
  Sixty-five unrelated MEN 2A patients from seven families were studied. Polymerase chain reaction, segregation, sequence analysis and restriction enzyme digestion were performed.
  
  
  RESULTS
  Of seven families, four had the TGC to TAC transition, two families the TGC to TGG transversion and one family the TGC to CGC transition in codon 634 of RET.
  
  
  CONCLUSIONS
  We found all the mutations in codon 634. The characterization of MEN 2A mutations allows early and presymptomatic diagnosis in this syndrome.
authors.affiliation: Departamento de Genética Molecular, L'Hospitalet de Liobregat, Barcelona.
authors.forename: J
authors.initials: J
authors.lastname: Biarnés
authors.forename: M
authors.initials: M
authors.lastname: Miranda
authors.forename: J
authors.initials: J
authors.lastname: Corral
authors.forename: E
authors.initials: E
authors.lastname: Gabau
authors.forename: X
authors.initials: X
authors.lastname: Matías-Guiu
authors.forename: A
authors.initials: A
authors.lastname: Matilla
authors.forename: J
authors.initials: J
authors.lastname: Soler
authors.forename: X
authors.initials: X
authors.lastname: Estivill
authors.forename: V
authors.initials: V
authors.lastname: Volpini
mesh_terms: D001483:Base Sequence; D002879:Chromosomes, Human, Pair 10; D003062:Codon; D029721:Drosophila Proteins; D005260:Female; D006239:Haplotypes; D006801:Humans; D008297:Male; D018813:Multiple Endocrine Neoplasia Type 2a / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011518:Proto-Oncogene Proteins / Q000032:analysis*; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases / Q000032:analysis*; D012307:Risk Factors; D017421:Sequence Analysis
chemical_list: D003062:Codon; D029721:Drosophila Proteins; D011518:Proto-Oncogene Proteins; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases; C416649:Ret protein, Drosophila