RET-protooncogene variants in patients with sporadic neoplasms of the digestive tract and the central nervous system.
Int J Colorectal Dis
; 26(7): 835-40, 2011 Jul.
Article
em En
| MEDLINE
| ID: mdl-21311890
ABSTRACT
PURPOSE:
The RET protooncogene plays a crucial role in neural crest development; accordingly, mutations of RET cause MEN2A and familial medullary thyroid carcinoma, while the expression deregulation of RET is involved in the pathophysiology of glioblastoma multiforme (GBM) and pancreatic cancer (PDAC). The aim of this study was to evaluate if germline variants of the RET protooncogene are associated with GBM, pancreatic cancer and gastric cancer (GC).METHODS:
Genomic DNA from peripheral blood was isolated from 100 patients with GBM, 65 patients with GC and 54 patients with PDAC. The coding sequence of RET promoter, exon 2 and exon 13 was amplified. Sequence variations at -5 and -1 in the promotor and in exon 2 were determined through a LightCycler assay, and analysis of exon 13 was carried out by genomic sequencing.RESULTS:
There was no significant association of the RET-promoter or exon 2 genotypes with the phenotype in the different populations, although there was an increase of the GG genotype of the -5G>A variant in all cancers compared to controls. Sequencing of exon 13 identified mutation c.2372A>T in codon 791 (Y791F) in heterozygous state in one of 100 GBM patients, in two of 65 patients with gastric cancer, in two of 54 PDAC patients and in none of the controls.CONCLUSIONS:
Although our data did not reach significance in our small cohorts, we cannot rule out the involvement of the -5G promoter allele and the c.2372A>T mutation in the development of the aforementioned tumours.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Neoplasias do Sistema Nervoso Central
/
Predisposição Genética para Doença
/
Polimorfismo de Nucleotídeo Único
/
Proteínas Proto-Oncogênicas c-ret
/
Neoplasias Gastrointestinais
Tipo de estudo:
Etiology_studies
/
Incidence_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Limite:
Aged
/
Female
/
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
Int J Colorectal Dis
Assunto da revista:
GASTROENTEROLOGIA
Ano de publicação:
2011
Tipo de documento:
Article
País de afiliação:
Alemanha