Germline and somatic mutation of the gene for multiple endocrine neoplasia type 1 (MEN1)

S. J. Marx, S. K. Agarwal, M. B. Kester, C. Heppner, Y. S. Kim, M. R. Emmert-Buck, L. V. Debelenko, I. A. Lubensky, Z. Zhuang, S. C. Guru, P. Manickam, S. E. Olufemi, M. C. Skarulis, J. L. Doppman, R. H. Alexander, L. A. Liotta, F. S. Collins, S. C. Chandrasekharappa, A. M. Spiegel, A. L. Burns

Research output: Contribution to journalArticlepeer-review

39 Scopus citations


Dideoxyfingerprinting was used to screen for germline and somatic MEN1 mutations. This method, applied to a panel of germline DNA from 15 probands with multiple endocrine neoplasia type 1 (MEN-1), allowed confident discovery of the MEN1 gene. Germline MEN1 mutation has been found in 47 out of 50 probands with familial MEN-1, in 7 out of 8 cases with sporadic MEN-1, and in 1 out of 3 cases with atypical sporadic MEN-1. Germline MEN1 mutation was not found in any of five probands with familial hyperparathyroidism. Somatic MEN1 mutations were found in 7 out of 33 parathyroid tumours not associated with MEN-1. Allowing for repeating mutations, a total of 47 different germline or somatic MEN1 mutations have been identified. Most predict inactivation of the encoded 'menin' protein, supporting expectations that MEN1 is a tumour suppressor gene. The 16 observed missense mutations were distributed across the gene, suggesting that many domains are important to its as yet unknown functions.

Original languageEnglish (US)
Pages (from-to)447-453
Number of pages7
JournalJournal of Internal Medicine
Issue number6
StatePublished - 1998
Externally publishedYes


  • Gastrinoma
  • Oncogene
  • Parathyroid adenoma
  • Tumour suppressor

ASJC Scopus subject areas

  • Internal Medicine


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