Mutation of the MENIN gene in sporadic pancreatic endocrine tumors.
Cancer Res
; 58(19): 4417-20, 1998 Oct 01.
Article
em En
| MEDLINE
| ID: mdl-9766672
ABSTRACT
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Neoplasias Pancreáticas
/
Cromossomos Humanos Par 11
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Proteínas Proto-Oncogênicas
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Deleção de Sequência
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Mutação Puntual
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Neoplasia Endócrina Múltipla Tipo 1
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Perda de Heterozigosidade
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Proteínas de Neoplasias
Limite:
Humans
Idioma:
En
Revista:
Cancer Res
Ano de publicação:
1998
Tipo de documento:
Article
País de afiliação:
Estados Unidos