The overall goal of this project is to develop risk scores for pancreatic cancer that can be used to improve clinical screening practices. Specifically, we plan to develop and validate multifactorial risk scores for pancreatic cancer that incorporate epidemiological risk factors, common genetic variants, and rare pathogenic variants from hereditary cancer syndrome genes.
Aim 1: We will use well-annotated datasets on over 4500 Mayo Clinic pancreatic cancer cases and 46500 Mayo Clinic control patients whose germline DNA has been sequenced by Regeneron Genetics Center (RGC) to develop enhanced, multifactorial risk scores for pancreatic cancer that build on and improve previously developed risk scores developed in other datasets and/or from the literature. Current knowledge in the literature regarding risk scores using common genetic variants, rare variants, and epidemiological risk factor covariates will be used.
Aim 2: We will validate these enhanced multifactorial risk scores using data on UK Biobank pancreatic cancer cases and control participants whose germline DNA have also been sequenced by Regeneron Genetics Center (RGC). The results are anticipated to have a translational impact on risk assessment, genetic counseling, and early detection of pancreatic cancer through identification of individuals at increased risk of pancreatic cancer who in the future could be offered minimally invasive surveillance or other options for early-stage detection and prevention.
