
BMC Seminar Thursday 29 April, 12:00
Speaker: Dr. Laufey Ámundadóttir, Senior Investigator in the Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health.
https://dceg.cancer.gov/about/staff-directory/amundadottir-laufey
Title: Unraveling the mysteries of noncoding and coding risk variants identified through pancreatic cancer GWAS
Abstract: Pancreatic cancer is currently the third leading cause of cancer deaths in the U.S., and the seventh worldwide. Genome wide association studies (GWAS) have mapped multiple loci that influence risk of pancreatic cancer. Most of these are believed to influence noncoding gene regulatory elements in an allele specific manner, and lead to expression differences at nearby or distant genes. However, a handful of GWAS loci in other common diseases have been shown to influence gene structure in a more direct manner. This seminar will describe genomic and molecular biology approaches that have led to the identification of functional variants at pancreatic cancer risk loci that influence gene expression regulation, and an example of a risk locus that affects the coding region of a gene and protein structure and function.