Expanding the Genetic Landscape in Ovarian Carcinoma: Insights from the PERSONA-Ovary Trial on Germline and Somatic Testing

Highlight

• Unselected germline multigene testing in ovarian carcinoma identifies pathogenic/likely-pathogenic variants in nearly 30% of patients.

• BRCA1/2 mutations remain predominant but significant detection extends beyond these genes, underscoring broader genetic assessment.

• Germline and somatic BRCA testing show high concordance, facilitating complementary diagnostic strategies.

• Optimized testing workflows balancing germline-first and tumor-first approaches enhance detection rates and reduce assay burden.

Study Background