PMID- 10993646
OWN - NLM
STAT- MEDLINE
DCOM- 20001103
LR  - 20181113
IS  - 0007-0920 (Print)
IS  - 1532-1827 (Electronic)
IS  - 0007-0920 (Linking)
VI  - 83
IP  - 8
DP  - 2000 Oct
TI  - Identification of somatic mutations of the MEN1 gene in sporadic endocrine 
      tumours.
PG  - 1003-8
AB  - Endocrine tumours of the pancreas, anterior pituitary or parathyroids arise 
      either sporadically in the general population, or as a part of inherited 
      syndromes such as multiple endocrine neoplasia type 1 (MEN 1). The mechanisms 
      responsible for the development of sporadic endocrine lesions are not well 
      understood, although loss of heterozygosity (LOH) of the MEN1 locus on chromosome 
      11q13 and somatic mutation of the MEN1 gene have been frequently associated with 
      the development of MEN 1-type sporadic endocrine lesions. To further investigate 
      the role of the MEN1 gene in sporadic endocrine tumorigenesis, we analysed DNA 
      from 14 primary parathyroid lesions, 8 anterior pituitary tumours and 3 
      pancreatic tumours for the presence of somatic MEN1 gene mutations and LOH of 
      seven microsatellite markers flanking the MEN1 locus. In addition, we similarly 
      analysed 8 secondary parathyroid lesions which arose in patients with chronic 
      renal failure. None of the patients studied had a family history of MEN 1. Three 
      primary parathyroid lesions and one pancreatic tumour (glucagonoma) were found to 
      have lost one allele at the MEN1 locus. Somatic mutations were identified by SSCP 
      and sequence analysis in one of these parathyroid lesions (P320L) and in the 
      glucagonoma (E179V). These results support previous findings that inactivation of 
      the MEN1 tumour suppressor gene contributes to the development of sporadic MEN 
      1-type endocrine lesions but is not associated with the development of 
      parathyroid hyperplasia seen in some renal failure patients.
CI  - Copyright 2000 Cancer Research Campaign.
FAU - Bergman, L
AU  - Bergman L
AD  - Queensland Cancer Fund Research Unit, Joint Experimental Oncology Programme of 
      the Queensland Institute of Medical Research and the University of Queensland, 
      Herston, QLD 4029, Australia.
FAU - Boothroyd, C
AU  - Boothroyd C
FAU - Palmer, J
AU  - Palmer J
FAU - Grimmond, S
AU  - Grimmond S
FAU - Walters, M
AU  - Walters M
FAU - Teh, B
AU  - Teh B
FAU - Shepherd, J
AU  - Shepherd J
FAU - Hartley, L
AU  - Hartley L
FAU - Hayward, N
AU  - Hayward N
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Br J Cancer
JT  - British journal of cancer
JID - 0370635
RN  - 0 (MEN1 protein, human)
RN  - 0 (Neoplasm Proteins)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - Adenoma/genetics/surgery
MH  - Adult
MH  - Aged
MH  - Aged, 80 and over
MH  - Base Sequence
MH  - Chromosome Mapping
MH  - *Chromosomes, Human, Pair 11
MH  - *Genes, Tumor Suppressor
MH  - Humans
MH  - Kidney Transplantation
MH  - *Loss of Heterozygosity
MH  - Microsatellite Repeats
MH  - Middle Aged
MH  - Neoplasm Proteins/*genetics
MH  - Pancreatic Neoplasms/*genetics/surgery
MH  - Parathyroid Diseases/genetics/surgery
MH  - Parathyroid Neoplasms/*genetics/surgery
MH  - Pituitary Neoplasms/*genetics/surgery
MH  - Polymorphism, Single-Stranded Conformational
MH  - *Proto-Oncogene Proteins
PMC - PMC2363572
EDAT- 2000/09/20 11:00
MHDA- 2001/02/28 10:01
CRDT- 2000/09/20 11:00
PHST- 2000/09/20 11:00 [pubmed]
PHST- 2001/02/28 10:01 [medline]
PHST- 2000/09/20 11:00 [entrez]
AID - S0007092000913855 [pii]
AID - 10.1054/bjoc.2000.1385 [doi]
PST - ppublish
SO  - Br J Cancer. 2000 Oct;83(8):1003-8. doi: 10.1054/bjoc.2000.1385.