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MEN1 gene mutations in 12 MEN1 families and their associated tumors

Bartsch, D.; Kopp, I.; Bergenfelz, A LU ; Rieder, Harald; Münch, K; Jäger, K; Deiss, Y; Schudy, A; Barth, P and Arnold, Steve R., et al. (1998) In European Journal of Endocrinology 139(4). p.20-416
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... (More)

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.

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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
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European Journal of Endocrinology
volume
139
issue
4
pages
5 pages
publisher
Society of the European Journal of Endocrinology
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  • scopus:0031758525
ISSN
0804-4643
language
English
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20bc6a2f-288e-4767-a9e9-0f34f73ba229
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2017-05-10 17:37:39
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@article{20bc6a2f-288e-4767-a9e9-0f34f73ba229,
  abstract     = {<p>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.</p>},
  author       = {Bartsch, D. and Kopp, I. and Bergenfelz, A and Rieder, Harald and Münch, K and Jäger, K and Deiss, Y and Schudy, A and Barth, P and Arnold, Steve R. and Rothmund, M and Simon, Benjamin},
  issn         = {0804-4643},
  keyword      = {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},
  language     = {eng},
  number       = {4},
  pages        = {20--416},
  publisher    = {Society of the European Journal of Endocrinology},
  series       = {European Journal of Endocrinology},
  title        = {MEN1 gene mutations in 12 MEN1 families and their associated tumors},
  volume       = {139},
  year         = {1998},
}