Literature DB >> 24217364

Analysis of germline gene copy number variants of patients with sporadic pancreatic adenocarcinoma reveals specific variations.

Daniele Fanale1, Juan Lucio Iovanna, Ezequiel Luis Calvo, Patrice Berthezene, Pascal Belleau, Jean Charles Dagorn, Chiara Ancona, Giovanna Catania, Paolo D'Alia, Antonio Galvano, Eliana Gulotta, Silvia Lo Dico, Francesco Passiglia, Giuseppe Bronte, Massimo Midiri, Giuseppe Lo Re, Giuseppe Cicero, Viviana Bazan, Antonio Russo.   

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.
© 2013 S. Karger AG, Basel.

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Year:  2013        PMID: 24217364     DOI: 10.1159/000354737

Source DB:  PubMed          Journal:  Oncology        ISSN: 0030-2414            Impact factor:   2.935


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