Journal: Molecular oncology
This study prospectively evaluated a tumor-first multigene next-generation sequencing (NGS) approach in epithelial ovarian cancer (EOC). Tumor tissue testing was compared with germline testing from blood in 106 patients.
Using an 18-gene panel, the study found 27 tumor variants in 26 patients, with:
- 59% being germline pathogenic variants
- 41% somatic variants
Tumor-first testing accurately identified germline variant status in 99.1% of cases, missing only one germline BRCA1 copy number variant.
Additionally, 28% of BRCA-negative patients were homologous recombination deficiency (HRD)-positive.
The findings support tumor-first multigene NGS as a feasible and efficient strategy to detect germline mutations in EOC with minimal false negatives.