Clinical Screening as Compared with DNA Analysis in Families with Multiple Endocrine Neoplasia Type 2A

Authors:
  • RLRudy M. Landsvater
    Rudy M. Landsvater
  • JHJo Hoppener
    Jo Hoppener
  • RGRolf A. Geerdink
    Rolf A. Geerdink
  • GBGeert Blijham
    Geert Blijham
  • JVJoke M. Jansen-Schillhorn van Veen
    Joke M. Jansen-Schillhorn van Veen
  • AGAdriaan van Gils
    Adriaan van Gils
  • MWMireille J. de Wit
    Mireille J. de Wit
  • RZRichard A. Zewald
    Richard A. Zewald
  • MBMarianne Berends
    Marianne Berends
  • FBFrits A. Beemer
    Frits A. Beemer
  • JBJoanneke Brouwers-Smalbraak
    Joanneke Brouwers-Smalbraak
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Abstract
Multiple endocrine neoplasia type 2A (MEN-2A) is characterized by medullary thyroid carcinoma in combination with pheochromocytoma and sometimes parathyroid adenoma. Missense mutations in the RET proto-oncogene are associated with MEN-2A. Their detection by DNA analysis allows the identification of carriers of the gene, in whom the risk of medullary thyroid carcinoma is 100 percent. We compared the reliability of biochemical tests with that of DNA analysis in identifying carriers of the MEN2A gene.

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