Prevalence of pathogenic or likely pathogenic germline variants in unselected Chinese patients with gynecologic cancers

Understanding germline and somatic status in patients with gynecologic cancers could improve risk assessment and guide therapeutic decision-making. A multicenter retrospective cross-sectional study in China evaluated the prevalence of germline pathogenic or likely pathogenic (P/LP) variants in 1610 unselected patients with gynecological cancers. The P/LP germline variant prevalence was 20.5% for ovarian cancer, 13.4% for endometrial cancer, and 6.4% for cervical cancer, 95.1% of which werd in homologous recombination repair and mismatch repair genes. The findings also revealed tumor lineage and gene-dependent associations with the age of disease onset and somatic phenotype. The authors conclude that these findings highlight the hereditary factor in cervical cancer, which has long been neglected, and suggest the importance of next-generation sequencing-based genetic testing with a large gene panel for gynecologic cancers.