Cascade Genetic Testing for Hereditary Cancer Risk: An Underutilized Tool for Cancer Prevention.

Over the last 2 decades, the ability to detect genes responsible for hereditary cancers has dramatically improved, and now, more than 400 cancer predisposition genes have been described.[1],[2] Hereditary cancer syndromes (HCS) are conditions in which a germline pathogenic variant (PV) in a single gene leads to an increased risk of cancer. Relevance Significant improvements in the uptake of CT are needed to realize the promise of cancer prevention that arises from early identification of a cancer-predisposing pathogenic variant in family members before a cancer diagnosis. Once a PV is identified in a proband through germline GT, the potential for cancer risk stratification and cancer prevention may extend, through communication about genetic risk and a process called cascade testing (CT), from this first individual to blood relatives within the family. [Extracted from the article]