Germline Mutations as Risk Factors for Lung Cancer: A Systematic Review and Meta-analysis.

Systematic review and meta-analysis of pathogenic germline variant prevalence in lung cancer patients

Hereditary predisposition to lung cancer is increasingly recognised, but its prevalence remains poorly characterised. This systematic review and meta-analysis (28 studies) estimates an overall pathogenic/likely pathogenic germline variant prevalence of 7.9% (95% CI 3.8–15.9%), with high heterogeneity. Gene-specific frequencies are: BRCA2 0.96%, ATM 0.67%, TP53 0.57%, CHEK2 0.49%, BRCA1 0.48%, EGFR 0.17%. High-risk enriched cohorts show higher prevalence, and DNA damage repair gene variants are more frequent in non-Asian populations.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

A useful synthesis consolidating an emerging message: the germline component of lung cancer is not negligible, with a notable role for DNA repair genes. The heterogeneity (I²≈99%) warrants caution about the pooled figure, but the discussion about germline testing indications in selected lung cancers is legitimate.

Analysis by Dr Thibaut Benquey