A Multifactorial score for pancreatic ductal adenocarcinoma risk prediction

Abstract

Background and Objectives: Most cases of pancreatic cancer are asymptomatic in early stages, and the disease is typically diagnosed in advanced phases. Most patients die within one year after diagnosis. Tools to identify individuals at high risk of developing pancreatic cancer would be useful to improve chances of early detection leveraging on genetic and non-genetic risk factors. The aims of this study were to generate a multigenic score for pancreatic ductal adenocarcinoma (PDAC) risk prediction, combining the effect of known risk single nucleotide polymorphisms (SNPs), and to carry out an exploratory analysis of a multifactorial score. Materials and Methods: The study was conducted on 3619 PDAC cases and 5460 controls of European origin from the PANcreatic Disease ReseArch (PANDoRA) consortium. Twenty-three risk SNPs were included in a multigenic score. Additional exploratory multifactorial scores were constructed by complementing the genetic score with smoking and diabetes. Results: The scores were associated with increased PDAC risk (OR¼5.40 (95% C.I.¼ 2.35-5.52), highest vs. lowest quintile of the multifactorial risk score) and reached high statistical significance (p¼3.0x10-11) though they cannot yet be useful in clinical practice. Conclusion: In conclusion, in this study, we found a highly significant association between a multigenic score and the risk of PDAC onset, that cannot yet be useful in clinical practice but explains more than individual SNPs and is a step forward in the direction of the construction of a tool for risk stratification. P5-11. KRAS mutation analysis by droplet digital PCR of duodenal juice from patients with pancreatic diseases Man Hung Choi 1,2, Erling Tjora 3,4, Randi Hovland 5, Anders Molven 1,2,4 1 Gade Laboratory for Pathology, Department of Clinical Medicine, University of Bergen, Bergen, Norway 2 Department of Pathology, Haukeland University Hospital, Bergen, Norway 3 [...].