Analysis of germline gene copy number variants of patients with sporadic pancreatic adenocarcinoma reveals specific variations.
Oncology
; 85(5): 306-11, 2013.
Article
em En
| MEDLINE
| ID: mdl-24217364
ABSTRACT
OBJECTIVES:
The rapid fatality of pancreatic cancer is, in large part, the result of diagnosis at an advanced stage in the majority of patients. Identification of individuals at risk of developing pancreatic adenocarcinoma would be useful to improve the prognosis of this disease. There is presently no biological or genetic indicator allowing the detection of patients at risk. Our main goal was to identify copy number variants (CNVs) common to all patients with sporadic pancreatic cancer.METHODS:
We analyzed gene CNVs in leukocyte DNA from 31 patients with sporadic pancreatic adenocarcinoma and from 93 matched controls. Genotyping was performed with the use of the GeneChip Human Mapping 500K Array Set (Affymetrix).RESULTS:
We identified 431 single nucleotide polymorphism (SNP) probes with abnormal hybridization signal present in the DNA of all 31 patients. Of these SNP probes, 284 corresponded to 3 or more copies and 147 corresponded to 1 or 0 copies. Several cancer-associated genes were amplified in all patients. Conversely, several genes supposed to oppose cancer development were present as single copy.CONCLUSIONS:
These data suggest that a set of 431 CNVs could be associated with the disease. This set could be useful for early diagnosis.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Neoplasias Pancreáticas
/
Adenocarcinoma
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Mutação em Linhagem Germinativa
/
Dosagem de Genes
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Polimorfismo de Nucleotídeo Único
Tipo de estudo:
Diagnostic_studies
/
Observational_studies
/
Risk_factors_studies
/
Screening_studies
Limite:
Aged
/
Female
/
Humans
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Male
/
Middle aged
Idioma:
En
Ano de publicação:
2013
Tipo de documento:
Article