Comprehensive clinical cancer analysis of homologous recombination deficiency biomarkers in an academic molecular profiling program.
Combining tissue and blood biopsies reveals which patients are developing resistance to cancer drugs, enabling faster switches to alternative treatments.
Researchers at VHIO integrated genetic, functional (RAD51 foci), and genomic instability scoring across >500 tumor samples and >20 paired liquid biopsies spanning three cancer types, finding that no single HRD assay is sufficient and that complementary tissue/liquid biopsy approaches meaningfully improve PARPi selection guidance. A key translational finding is that ctDNA-based BRCA reversion mutations are detectable in >30% of post-PARPi metastatic breast cancers and associate with platinum resistance, enabling actionable treatment switching.
What the study was
- Study design
- prospective_biomarker_cohort
- Population
- Ovarian, breast, and prostate cancer patients
- Sample size
- ≥500 tumors; >20 paired liquid biopsies
- Category
- Early Detection
- Maturity
- Validated
- Journal
- NPJ Precision Oncology
Why it surfaced
Directly actionable for PARPi eligibility decisions across multiple cancer types; liquid biopsy monitoring for resistance mutations is a near-term clinical implementation target; multi-institutional VHIO/ICR collaboration with high methodological rigor.
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