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

Multi-cancer gene panels identify pathogenic variants in 4.8% of individuals not meeting testing criteria, missing 22% of actionable hereditary cancer cases.

• Why it matters: Many individuals with cancer-predisposing variants remain undetected due to restrictive testing guidelines, limiting early intervention and family risk assessment.
• What they did: Analyzing 153,767 unselected individuals across multiple sites from June 2020 to August 2023, researchers evaluated positivity rates for a 29-gene panel based on guideline eligibility.
• The result: Findings suggest that broader testing with multi-cancer panels could improve detection of hereditary cancer syndromes, enabling better targeted screening, management, and cascade testing.