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

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