Yield of actionable variants from high-risk cancer gene panel testing in guideline-eligible and ineligible individuals

Introduction

Hereditary cancer testing can identify individuals with a significant risk of cancer, and provide an opportunity for early risk management, prevention, precision treatment strategies, and family cascade testing. Medical professional organizations have developed guidance on genetic testing criteria based on personal and family histories. However, many individuals with cancer-predisposing pathogenic germline variants remain unidentified. The objective of this study was to determine the utility of a multi-cancer, clinically actionable cancer syndrome gene panel in identifying pathogenic variants among individuals both meeting and not meeting national genetic testing criteria.