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MEN1 gene mutations in 12 MEN1 families and their associated tumors

1998; Oxford University Press; Volume: 139; Issue: 4 Linguagem: Inglês

10.1530/eje.0.1390416

1479-683X

Detlef K. Bartsch, I. Kopp, Anders Bergenfelz, Harald Rieder, Karin Münch, Karin Jäger, Yvonne Deiss, Andreas Schudy, Peter Barth, Roland Arnold, Μ. Rothmund, Babette Simon,

Gestational Trophoblastic Disease Studies

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.