PMID- 9820618
OWN - NLM
STAT- MEDLINE
DCOM- 19981130
LR  - 20190905
IS  - 0804-4643 (Print)
IS  - 0804-4643 (Linking)
VI  - 139
IP  - 4
DP  - 1998 Oct
TI  - MEN1 gene mutations in 12 MEN1 families and their associated tumors.
PG  - 416-20
AB  - 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.
FAU - Bartsch, D
AU  - Bartsch D
AD  - Department of Surgery of the Philipps-University, Marburg, Germany.
FAU - Kopp, I
AU  - Kopp I
FAU - Bergenfelz, A
AU  - Bergenfelz A
FAU - Rieder, H
AU  - Rieder H
FAU - Munch, K
AU  - Munch K
FAU - Jager, K
AU  - Jager K
FAU - Deiss, Y
AU  - Deiss Y
FAU - Schudy, A
AU  - Schudy A
FAU - Barth, P
AU  - Barth P
FAU - Arnold, R
AU  - Arnold R
FAU - Rothmund, M
AU  - Rothmund M
FAU - Simon, B
AU  - Simon B
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Eur J Endocrinol
JT  - European journal of endocrinology
JID - 9423848
SB  - IM
MH  - Adenoma/genetics
MH  - Chromosomes, Human, Pair 11
MH  - Gastrinoma/genetics
MH  - *Germ-Line Mutation
MH  - Humans
MH  - Insulinoma/genetics
MH  - Loss of Heterozygosity
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - Pancreatic Neoplasms/genetics
MH  - Parathyroid Neoplasms/genetics
MH  - Phenotype
MH  - Polymorphism, Single-Stranded Conformational
MH  - Sequence Analysis, DNA
MH  - Vipoma/genetics
EDAT- 1998/11/20 00:00
MHDA- 1998/11/20 00:01
CRDT- 1998/11/20 00:00
PHST- 1998/11/20 00:00 [pubmed]
PHST- 1998/11/20 00:01 [medline]
PHST- 1998/11/20 00:00 [entrez]
AID - 10.1530/eje.0.1390416 [doi]
PST - ppublish
SO  - Eur J Endocrinol. 1998 Oct;139(4):416-20. doi: 10.1530/eje.0.1390416.