Germline testing in lung cancer: evidence of enrichment without a standardized selection strategy - a systematic review.
Fabrizio Citarella, Roberto Ferrara, Massimo Di Maio et al.
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In 30 seconds
This systematic review examined the prevalence of pathogenic germline variants (PGVs) in lung cancer across 49 studies. It found a median prevalence of approximately 6% in unselected cohorts and 27% in selected cohorts, highlighting the potential for improved detection through patient selection strategies. The study underscores the lack of standardized selection methods in current practice.
Key findings
- Median prevalence of PGVs/LPGVs was approximately 6% in unselected cohorts and 27% in selected cohorts.
- Selected populations showed higher prevalence of PGVs in Non-Small Cell lung cancer analyses.
- Selection strategies for germline testing were highly heterogeneous with no standardized approach.
- Family history was rarely used as a formal selection criterion.
Why it matters
Understanding the prevalence of germline variants in lung cancer can inform clinicians about the potential benefits of targeted testing strategies. Improved patient selection may enhance the detection of clinically relevant genetic alterations, which could influence treatment and prevention strategies.