Genome-wide analysis of the role of copy-number variation in pancreatic cancer risk Journal Article


Authors: Willis, J. A.; Mukherjee, S.; Orlow, I.; Viale, A.; Offit, K.; Kurtz, R. C.; Olson, S. H.; Klein, R. J.
Article Title: Genome-wide analysis of the role of copy-number variation in pancreatic cancer risk
Abstract: Although family history is a risk factor for pancreatic adenocarcinoma, much of the genetic etiology of this disease remains unknown. While genome-wide association studies have identified some common single nucleotide polymorphisms (SNPs) associated with pancreatic cancer risk, these SNPs do not explain all the heritability of this disease. We hypothesized that copy number variation (CNVs) in the genome may play a role in genetic predisposition to pancreatic adenocarcinoma. Here, we report a genome-wide analysis of CNVs in a small hospital-based, European ancestry cohort of pancreatic cancer cases and controls. Germline CNV discovery was performed using the Illumina Human CNV370 platform in 223 pancreatic cancer cases (both sporadic and familial) and 169 controls. Following stringent quality control, we asked if global CNV burden was a risk factor for pancreatic cancer. Finally, we performed in silico CNV genotyping and association testing to discover novel CNV risk loci. When we examined the global CNV burden, we found no strong evidence that CNV burden plays a role in pancreatic cancer risk either overall or specifically in individuals with a family history of the disease. Similarly, we saw no significant evidence that any particular CNV is associated with pancreatic cancer risk. Taken together, these data suggest that CNVs do not contribute substantially to the genetic etiology of pancreatic cancer, though the results are tempered by small sample size and large experimental variability inherent in array-based CNV studies. © 2014 Willis, Mukherjee, Orlow, Viale, Offit, Kurtz, Olson and Klein.
Keywords: cancer risk; pancreatic cancer; copy number variation; cnvs; snp microarrays
Journal Title: Frontiers in Genetics
Volume: 5
Issue: FEB
ISSN: 1664-8021
Publisher: Frontiers Media S.A.  
Date Published: 2014-02-13
Start Page: Article 29
Language: English
DOI: 10.3389/fgene.2014.00029
PROVIDER: scopus
PMCID: PMC3923159
PUBMED: 24592275
DOI/URL:
Notes: Export Date: 1 May 2014 -- Source: Scopus
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MSK Authors
  1. Kenneth Offit
    791 Offit
  2. Sara H Olson
    234 Olson
  3. Irene Orlow
    249 Orlow
  4. Agnes Viale
    246 Viale
  5. Robert J. Klein
    63 Klein
  6. Robert C Kurtz
    196 Kurtz
  7. Jason Willis
    4 Willis