Genetic epidemiology and pancreatic cancer

Gene mutations that are associated with cancer syndromes explain a small portion of pancreatic cancer cases. The majority of the sporadic pancreatic cancer cases are perhaps the consequence of a joint effect of genetic factors and environmental or lifestyle risk factors. Studies on common genetic variants via the candidate gene approach have observed risk modifications by genes involved in various biological process and signaling pathways. However, most of these findings were made in studies that lacked adequate statistical power or replication effort. Recent genome-wide association studies (GWAS) have identified several genes and loci associated with the risk of pancreatic cancer: ABO, NR5A2, and TERT1 in individuals with European ancestry, FOXQ1, BICD1, and DPP6 in the Japanese population, and BACH1, DAB2, PRLHR, TFF1, and FAM19A5 in the Chinese population. Future completion of larger scale GWAS in pancreatic cancer, mining of GWAS data using novel statistical approaches, and functional studies on the mechanistic links between identified genes and the disease will provide new insights into genetic susceptibility to and the molecular mechanisms of pancreatic cancer.