PMID- 9766672
OWN - NLM
STAT- MEDLINE
DCOM- 19981103
LR  - 20061115
IS  - 0008-5472 (Print)
IS  - 0008-5472 (Linking)
VI  - 58
IP  - 19
DP  - 1998 Oct 1
TI  - Mutation of the MENIN gene in sporadic pancreatic endocrine tumors.
PG  - 4417-20
AB  - Pancreatic endocrine tumors occur both sporadically and as part of the multiple 
      endocrine neoplasia type 1 (MEN1) syndrome. MEN1 is an autosomal dominant disease 
      characterized by parathyroid hyperplasia, pancreatic endocrine tumors, and 
      pituitary adenomas. The MEN1 gene called MENIN maps to chromosome 11q13 and is 
      thought to function as a tumor suppressor gene. We previously demonstrated loss 
      of heterozygosity (LOH) at 11q13 in approximately 40% of sporadic pancreatic 
      endocrine tumors and hypothesize that MENIN is involved in the development of 
      these tumors. Thirty-one sporadic pancreatic endocrine tumors were analyzed for 
      mutation of MENIN by nonradioactive single-stranded conformation polymorphism. 
      Twelve mutations were detected in 31 sporadic pancreatic endocrine tumors (34%). 
      Twelve of these 31 tumors previously demonstrated loss of heterozygosity at 
      11q13. Of the tumors with LOH, seven contained mutations of the MENIN gene (58%). 
      The majority of the MENIN mutations occurred within exon 2. Two independent 
      mutations in MENIN were detected in a gastrinoma that also revealed LOH, leading 
      to the possibility of another tumor suppressor gene locus at 11q13. Mutations 
      were present in both benign and malignant pancreatic endocrine tumors, suggesting 
      that a MENIN gene mutation is a frequent and early event in the tumorigenesis. 
      The high incidence of truncating mutations in tumors with LOH at 11q13 support 
      the hypothesis that MENIN is a tumor suppressor gene.
FAU - Wang, E H
AU  - Wang EH
AD  - Department of Surgery, West Los Angeles Veterans Affairs Medical Center and the 
      UCLA School of Medicine, California 90073, USA.
FAU - Ebrahimi, S A
AU  - Ebrahimi SA
FAU - Wu, A Y
AU  - Wu AY
FAU - Kashefi, C
AU  - Kashefi C
FAU - Passaro, E Jr
AU  - Passaro E Jr
FAU - Sawicki, M P
AU  - Sawicki MP
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, Non-P.H.S.
PL  - United States
TA  - Cancer Res
JT  - Cancer research
JID - 2984705R
RN  - 0 (DNA Primers)
RN  - 0 (MEN1 protein, human)
RN  - 0 (Neoplasm Proteins)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - Amino Acid Substitution
MH  - Base Sequence
MH  - Chromosome Mapping
MH  - *Chromosomes, Human, Pair 11
MH  - Cloning, Molecular
MH  - DNA Primers
MH  - Exons
MH  - Gastrinoma/genetics/pathology/surgery
MH  - Genes, Tumor Suppressor
MH  - Humans
MH  - Insulinoma/genetics/pathology/surgery
MH  - *Loss of Heterozygosity
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - Neoplasm Proteins/*genetics
MH  - Pancreatic Neoplasms/*genetics/pathology/surgery
MH  - *Point Mutation
MH  - Polymerase Chain Reaction
MH  - Polymorphism, Single-Stranded Conformational
MH  - *Proto-Oncogene Proteins
MH  - *Sequence Deletion
EDAT- 1998/10/10 02:12
MHDA- 2001/03/28 10:01
CRDT- 1998/10/10 02:12
PHST- 1998/10/10 02:12 [pubmed]
PHST- 2001/03/28 10:01 [medline]
PHST- 1998/10/10 02:12 [entrez]
PST - ppublish
SO  - Cancer Res. 1998 Oct 1;58(19):4417-20.