MEN1 gene mutations in 12 MEN1 families and their associated tumors

Research output: Contribution to journalArticle


Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant inherited tumor syndrome characterized by the development of multiple endocrine tumors. The gene responsible for the disease, termed MEN1 gene. has recently been isolated and germline mutations have been described in affected MEN1 individuals. Twelve unrelated (German MEN1 families and their associated tumors (5 parathyroid tumors, 1 vipoma, 1 gastrinoma, 1 insulinoma) were characterized for MEN1 gene mutations by single-strand conformational variant (SSCV) analysis and DNA sequence analysis as well as for loss of heterozygosity on chromosome 11q13. We identified nine different heterozygous germline mutations (6 frameshift, 2 missense, 1 nonsense), eight of them were novel. Four of five informative MEN1-associated tumors revealed deletion of the second MEN1 allele, supporting the concept of a tumor suppressor gene. Furthermore. SSCV analysis proved an effective and sensitive method for the detection of menin mutations providing a reliable genetic screening approach supporting genetic counseling and clinical management of MEN1 family members.


  • D. Bartsch
  • I. Kopp
  • A Bergenfelz
  • Harald Rieder
  • K Münch
  • K Jäger
  • Y Deiss
  • A Schudy
  • P Barth
  • Steve R. Arnold
  • M Rothmund
  • Benjamin Simon
External organisations
  • Philipp University of Marburg
Research areas and keywords


  • Adenoma, Chromosomes, Human, Pair 11, Gastrinoma, Germ-Line Mutation, Humans, Insulinoma, Loss of Heterozygosity, Multiple Endocrine Neoplasia Type 1, Pancreatic Neoplasms, Parathyroid Neoplasms, Phenotype, Polymorphism, Single-Stranded Conformational, Sequence Analysis, DNA, Vipoma, Journal Article, Research Support, Non-U.S. Gov't
Original languageEnglish
Pages (from-to)416-20
Number of pages5
JournalEuropean Journal of Endocrinology
Issue number4
Publication statusPublished - 1998 Oct
Publication categoryResearch
Externally publishedYes