AUTHOR=Willis Jason , Mukherjee Semanti , Orlow Irene , Viale Agnes , Offit Kenneth , Kurtz Robert C., Olson Sara , Klein Robert TITLE=Genome-wide analysis of the role of copy-number variation in pancreatic cancer risk JOURNAL=Frontiers in Genetics VOLUME=5 YEAR=2014 URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2014.00029 DOI=10.3389/fgene.2014.00029 ISSN=1664-8021 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