Identification of somatic mutations of the MEN1 gene in sporadic endocrine tumours

Bergman, L., Boothroyd, C., Palmer, J., Grimmond, S., Walters, M., Teh, B., Shepherd, J., Hartley, L. and Hayward, N. (2000) Identification of somatic mutations of the MEN1 gene in sporadic endocrine tumours. British Journal of Cancer, 83 8: 1003-1008. doi:10.1054/bjoc.2000.1385


Author Bergman, L.
Boothroyd, C.
Palmer, J.
Grimmond, S.
Walters, M.
Teh, B.
Shepherd, J.
Hartley, L.
Hayward, N.
Title Identification of somatic mutations of the MEN1 gene in sporadic endocrine tumours
Journal name British Journal of Cancer   Check publisher's open access policy
ISSN 0007-0920
1532-1827
Publication date 2000
Sub-type Article (original research)
DOI 10.1054/bjoc.2000.1385
Open Access Status DOI
Volume 83
Issue 8
Start page 1003
End page 1008
Total pages 6
Place of publication London, United Kingdom
Publisher Nature Publishing Group
Collection year 2000
Language eng
Abstract 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 FAENI 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 I-type endocrine lesions but is not associated with the development of parathyroid hyperplasia seen in some renal failure patients. (C) 2000 Cancer Research Campaign.
Keyword Oncology
Men 1
Loh
Mutation Analysis
Endocrine Tumour
Sporadic
Human Pituitary-tumors
Neoplasia Type-1 Gene
Suppressor Gene
Parathyroid Tumors
Allelic Deletion
Chromosome 11q13
Hyperparathyroidism
Adenomas
Locus
Chain
Q-Index Code C1

Document type: Journal Article
Sub-type: Article (original research)
Collection: School of Medicine Publications
 
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Created: Tue, 10 Jun 2008, 11:39:11 EST