Validation of the Polygenic Risk Score in Colorectal Cancer Risk Prediction in a Local Population

The multiphase project aims to identify a genetic tool based on blood samples that can accurately predict an individual’s risk for developing colorectal cancer over his/her lifetime. Using DNA extracted from blood specimens obtained from patients at Northwestern Medicine with or without colorectal cancer, we will eventually evaluate changes that occur in the DNA building blocks to validate a polygenic risk score established for European patients. This score will enable us to identify patients who lack a family history for colorectal cancer but should potentially begin their colorectal cancer screening before 45 years of age, which is the current standard of care. Moreover, the project could lead to a larger scale study that would target a more expansive population to initiate earlier screening in selected patients and decrease colorectal cancer-related deaths in younger patients. The intent of this initial phase is to recruit study subjects, acquire blood samples, and generate DNA specimens for future analysis.