GPMLS and BMC Seminar Thursday, 5th March at 12:00 in Askja room 132

Speaker: Dr. Laufey Ámundadóttir, Investigator in the Laboratory of Translational Genomics, National Cancer Institute

Title: From Germline Genetics to Function - Biological Underpinnings of Pancreatic Cancer Risk Loci from Genome-Wide Association Studies

Abstract: Genome wide association studies (GWAS) have mapped multiple independent germline susceptibility loci for at least 10 different cancers to a region of chr5p15.33 harboring the TERT and CLPTM1L genes (Hum Mol Genet 2014). We have fine-mapped one of these loci (Region 2) in pancreatic, testicular and lung cancer to a set of seven highly correlated SNPs. Through genomic, genetic and proteomic approaches we have identified a functional variant among these 7 SNPs and the mechanism by which it influences gene expression of its target gene. This work will be described in the seminar.

Biography: Dr. Amundadottir received a Ph.D. in Cell Biology in 1995 from Georgetown University in Washington, D.C. Her postdoctoral training was at the Department of Genetics at Harvard Medical School in Boston, MA. She joined deCODE genetics in Iceland in 1998 as the head of the Division of Cancer Genetics where she led genome wide linkage and association efforts in various cancers. Dr. Amundadottir joined the NCI in 2007 as a senior scientist and became an investigator in the Laboratory of Translational Genomics in 2008. Her current work focuses on genome wide association studies and functional characterization of plausible causal variants in order to understand how common sequence variation plays a role in the development of cancer.