Direct, non-radioactive detection of mutations in multiple endocrine neoplasia type 2A families

R McMahon, L M Mulligan, C S Healey, S J Payne, M Ponder, M A Ferguson-Smith, D E Barton, B A Ponder

Research output: Contribution to journalArticlepeer-review


We have designed PCR primers that permit the rapid non-Isotopic detection of mutations in codon 634 of the RET proto-oncogene, the causative mutations in over 80% of MEN 2A and 50% of FMTC famIlIes. In this paper we report the Investigation of eleven MEN 2A famIlIes referred to the East Anglian Regional Genetics Service. Nine of these families carry codon 634 mutations. We were able to confirm the diagnosis of MEN 2A in twenty six affected individuals and to determine the carrier status of forty one individuals thought to be at risk of developing the disease. Of those at risk, thirty one patients lacked the familiar mutation and ten were presymptomatic carriers of MEN 2A. In five cases the direct test proved that patients who had been treated by thyroidectomy but who lacked confirmed cancer, did not carry the familial mutation, removing the perceived risk of MEN 2A from their children. This group included one patient who had been diagnosed as having mild C-cell hyperplasia, confirming that in MEN 2A families C-cell hyperplasla can result from causes other than the presence of the MEN 2A mutation.

Original languageEnglish
Pages (from-to)643-646
Number of pages4
JournalHuman Molecular Genetics
Issue number4
Publication statusPublished - Apr 1994


  • Base Sequence
  • Calcitonin
  • Carcinoma, Medullary
  • Child
  • Codon
  • DNA Mutational Analysis
  • DNA Primers
  • DNA, Neoplasm
  • Drosophila Proteins
  • Female
  • Genetic Testing
  • Heterozygote Detection
  • Humans
  • Hyperplasia
  • Male
  • Molecular Sequence Data
  • Multiple Endocrine Neoplasia
  • Mutation
  • Neoplasm Proteins
  • Pedigree
  • Polymerase Chain Reaction
  • Proto-Oncogene Proteins
  • Proto-Oncogene Proteins c-ret
  • Proto-Oncogenes
  • Receptor Protein-Tyrosine Kinases
  • Risk
  • Thyroid Gland
  • Thyroid Neoplasms
  • Thyroidectomy
  • Tumor Markers, Biological
  • Proto-Oncogene Mas
  • Proto-Oncogene Proteins/genetics
  • Neoplasm Proteins/blood
  • Thyroid Gland/pathology
  • Receptor Protein-Tyrosine Kinases/genetics
  • Calcitonin/blood
  • Carcinoma, Medullary/blood
  • Thyroid Neoplasms/blood
  • Biomarkers, Tumor/blood
  • Multiple Endocrine Neoplasia/diagnosis
  • DNA, Neoplasm/genetics
  • Genetic Carrier Screening


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