Analysis of Germline Gene Copy Number Variants of Patients with Sporadic Pancreatic Adenocarcinoma Reveals Specific Variations

Antonio Galvano, Giuseppe Bronte, Francesco Passiglia, Eliana Gulotta, Viviana Bazan, Giuseppe Cicero, Daniele Fanale, Antonio Russo, Massimo Midiri, Pascal Belleau, Patrice Berthezene, Jean Charles Dagorn, Juan Lucio Iovanna, Ezequiel Luis Calvo, Giovanna Catania

Risultato della ricerca: Article

7 Citazioni (Scopus)


Objectives: The rapid fatality of pancreatic cancer is, in largepart, the result of diagnosis at an advanced stage in the majorityof patients. Identification of individuals at risk of developingpancreatic adenocarcinoma would be useful to improvethe prognosis of this disease. There is presently nobiological or genetic indicator allowing the detection of patientsat risk. Our main goal was to identify copy numbervariants (CNVs) common to all patients with sporadic pancreaticcancer. Methods: We analyzed gene CNVs in leukocyteDNA from 31 patients with sporadic pancreatic adenocarcinomaand from 93 matched controls. Genotyping wasperformed with the use of the GeneChip Human Mapping500K Array Set (Affymetrix). Results: We identified 431 singlenucleotide polymorphism (SNP) probes with abnormal hy-bridization signal present in the DNA of all 31 patients. Ofthese SNP probes, 284 corresponded to 3 or more copies and147 corresponded to 1 or 0 copies. Several cancer-associatedgenes were amplified in all patients. Conversely, severalgenes supposed to oppose cancer development were presentas single copy. Conclusions: These data suggest that aset of 431 CNVs could be associated with the disease. This setcould be useful for early diagnosis.
Lingua originaleEnglish
pagine (da-a)306-311
Numero di pagine6
Stato di pubblicazionePublished - 2013


All Science Journal Classification (ASJC) codes

  • Oncology
  • Cancer Research

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