Germline multigene panel testing for colorectal cancer: a systematic review and meta-analysis.
Multigene germline panel testing reveals pathogenic variants in 15.2% of unselected colorectal cancer patients, with significant implications beyond early-onset cases.
- Why it matters: Understanding the diagnostic yield of multigene testing addresses gaps in identifying inherited cancer risks, which can inform screening and prevention strategies for diverse patient groups.
- What they did: A systematic review and meta-analysis of 21 studies involving 6,925 patients used next-generation sequencing to estimate the prevalence of pathogenic variants, stratified by age and gene penetrance.
- The result: Findings show a substantial yield of pathogenic variants, especially in early-onset cases, with rates remaining above clinical thresholds up to age 67, supporting broader testing approaches.