Rare germline variants in pancreatic cancer and multiple primary cancers: an autopsy study
In the last few years, the genetic testing landscape has been changing, with lower costs, increased accessibility, more public awareness, and greater adoption of cancer gene panels. With the widespread introduction of multigene panel testing into clinical practice, we are observing an increased rate of germline variants (specially of unknown significance) in apparently healthy individuals or without any correlation with the classic hereditary cancer syndromes. In this study the Authors identified about 6% of germline pathogenic variants in individuals with sporadic pancreatic cancer and no family history for other tumors. Secondary findings could be explained by the presence of families with a lower gene penetrance, and there is a need for specific studies to be performed in order to obtain more data and drive specific clinical management guidelines. The identification of unexpected germline variants with pathogenic role poses major attention on clinical management challenges.
