MEN1 gene mutations in 12 MEN1 families and their associated tumors

Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

Abstract

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.

Detaljer

Författare
  • 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
Externa organisationer
  • Philipp University of Marburg
Forskningsområden

Nyckelord

Originalspråkengelska
Sidor (från-till)416-20
Antal sidor5
TidskriftEuropean Journal of Endocrinology
Volym139
Utgivningsnummer4
StatusPublished - 1998 okt
PublikationskategoriForskning
Peer review utfördJa
Externt publiceradJa