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

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RESEARCH PRODUCT

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

Daniele Fanale Lidia Rita Corsini Aleco D'andrea Marianna Terrasi Laura La Paglia Valeria Amodeo Giuseppe Bronte Sergio Rizzo Lavinia Insalaco M Perez Sybilla Cimino Loredana Bruno V Calò V Agnese Ce Symonds M Federico Nello Grassi Gianni Pantuso M Frazzetta Viviana Bazan El Calvo Jl Iovanna Antonio Russo

subject

Oncology Male Cancer Research medicine.medical_specialty Settore MED/06 - Oncologia Medica Gene Dosage Cancer-associated genes Biology Adenocarcinoma Gene dosage Polymorphism Single Nucleotide Sensitivity and Specificity Germline Germline mutation Germline alterations Polymorphism (computer science)Internal medicine Pancreatic cancer medicine pancreatic adenocarcinoma Humans Genetic Predisposition to Disease Copy number variations Copy-number variation Germ-Line Mutation Germline alteration Aged Cancer-associated gene Copy number variations; Cancer-associated genes; Germline alterations; Sporadic pancreatic cancer Copy number variation Case-control study General Medicine DNA Neoplasm Middle Aged medicine.disease Pancreatic Neoplasms Sporadic pancreatic cancer Oncology Tissue Array Analysis Case-Control Studies Adenocarcinoma Female

description

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.

year	journal	country	edition	language
2013-01-01

10.1159/000354737 http://hdl.handle.net/10447/108802