Germline pathogenic variants in patients with pancreatic cancer

Abstract

"Genomic medicine" has two meanings depending on the purpose: ① assessing the risk of cancer development in individuals without cancer, aiming for early detection and preventive intervention, and ② finding effective treatments based on genetic information (Precision Medicine). As for ①, for the disease entity of familial pancreatic cancer, research on cancer predisposition genes or surveillance has been ongoing. As for ②, a phase III study (POLO trial) showed that Olaparib as maintenance therapy after treatment with a platinum-based regimen prolongs progression-free survival in patients harboring germline BRCA1/2 pathogenic variants. In addition, various oncogene panel tests and companion diagnostics have recently been clinically implemented which will lead to increasing the chances of detecting germline pathogenic variants, and development of infrastructure is important.