Genetic landscape for screening and early diagnosis of pancreatic ductal adenocarcinoma: is there a signature?

Abstract

The last 15 years have seen unprecedent advancement in genomics techniques such as dense single nucleotide variants (SNVs) arrays or next generation Sequencing. In parallel, new analytical methodologies have been developed to streamline data understanding and integration. These advances have been instrumental in identifying common genetic variants associated with pancreatic ductal adenocarcinoma (PDAC) risk. The role of the individual variants is rather small, and they have no clinical utility for screening or early detection. However, their combined effect computed though polygenic risk scores (PGS) are showing promising potentiality in PDAC risk prediction. There still caveats, and limitations that need to be properly addressed however it is foreseeable that the genetic background will become a powerful tool in PDAC prediction, leveraging the advantage that it has compared to other biomarkers: germline genetics is invariable from birth to death.