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, Allen M. Spiegel, A. L. Burns

Research output: Contribution to journalArticle

37 Citations (Scopus)

Abstract

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
Volume243
Issue number6
DOIs
StatePublished - 1998
Externally publishedYes

Fingerprint

Multiple Endocrine Neoplasia Type 1
Germ-Line Mutation
Genes
Mutation
Hyperparathyroidism
Missense Mutation
Tumor Suppressor Genes

Keywords

  • Gastrinoma
  • Oncogene
  • Parathyroid adenoma
  • Tumour suppressor

ASJC Scopus subject areas

  • Internal Medicine

Cite this

Marx, S. J., Agarwal, S. K., Kester, M. B., Heppner, C., Kim, Y. S., Emmert-Buck, M. R., ... Burns, A. L. (1998). Germline and somatic mutation of the gene for multiple endocrine neoplasia type 1 (MEN1). Journal of Internal Medicine, 243(6), 447-453. https://doi.org/10.1046/j.1365-2796.1998.00348.x

Germline and somatic mutation of the gene for multiple endocrine neoplasia type 1 (MEN1). / Marx, S. J.; Agarwal, S. K.; Kester, M. B.; Heppner, C.; Kim, Y. S.; Emmert-Buck, M. R.; Debelenko, L. V.; Lubensky, I. A.; Zhuang, Z.; Guru, S. C.; Manickam, P.; Olufemi, S. E.; Skarulis, M. C.; Doppman, J. L.; Alexander, R. H.; Liotta, L. A.; Collins, F. S.; Chandrasekharappa, S. C.; Spiegel, Allen M.; Burns, A. L.

In: Journal of Internal Medicine, Vol. 243, No. 6, 1998, p. 447-453.

Research output: Contribution to journalArticle

Marx, SJ, Agarwal, SK, Kester, MB, Heppner, C, Kim, YS, Emmert-Buck, MR, Debelenko, LV, Lubensky, IA, Zhuang, Z, Guru, SC, Manickam, P, Olufemi, SE, Skarulis, MC, Doppman, JL, Alexander, RH, Liotta, LA, Collins, FS, Chandrasekharappa, SC, Spiegel, AM & Burns, AL 1998, 'Germline and somatic mutation of the gene for multiple endocrine neoplasia type 1 (MEN1)', Journal of Internal Medicine, vol. 243, no. 6, pp. 447-453. https://doi.org/10.1046/j.1365-2796.1998.00348.x
Marx, S. J. ; Agarwal, S. K. ; Kester, M. B. ; Heppner, C. ; Kim, Y. S. ; Emmert-Buck, M. R. ; Debelenko, L. V. ; Lubensky, I. A. ; Zhuang, Z. ; Guru, S. C. ; Manickam, P. ; Olufemi, S. E. ; Skarulis, M. C. ; Doppman, J. L. ; Alexander, R. H. ; Liotta, L. A. ; Collins, F. S. ; Chandrasekharappa, S. C. ; Spiegel, Allen M. ; Burns, A. L. / Germline and somatic mutation of the gene for multiple endocrine neoplasia type 1 (MEN1). In: Journal of Internal Medicine. 1998 ; Vol. 243, No. 6. pp. 447-453.
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AU - Heppner, C.

AU - Kim, Y. S.

AU - Emmert-Buck, M. R.

AU - Debelenko, L. V.

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AU - Spiegel, Allen M.

AU - Burns, A. L.

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