ArticleJournal of clinical pathology2024
In-house homologous recombination deficiency testing in ovarian cancer: a multi-institutional Italian pilot study.
Article in Journal of clinical pathology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed.
- Liquid biopsy: a new window on the BRCA genes.ESMO open · 2026Review
- Validation of QuANTUM-derived tumor cell fraction for molecular testing in high-grade serous tubo-ovarian carcinoma.NPJ precision oncology · 2026Article
- Homologous recombination deficiency tumor tissue testing in a real-world cohort of tubo-ovarian carcinoma patients: validation of decentralized genomic profiling in 4777 cases.Virchows Archiv : an international journal of pathology · 2026Article
- Precision oncology in gynecologic cancers: molecular taxonomy, biomarker-guided therapeutics, and the challenge of therapeutic resistance.Frontiers in oncology · 2026Review
- Routine Tumor Testing for Homologous Recombination Deficiency in Patients With High Grade Epithelial Ovarian Cancer at a Statewide Gynecological Cancer Service in Western Australia: An Observational Study.Cancer reports (Hoboken, N.J.) · 2025Observational
- Homologous recombination deficiency testing in ovarian cancer: the diagnostic experience of a referral Italian institution.Pathologica · 2025Article
- Homologous recombination deficiency (HRD) testing landscape: clinical applications and technical validation for routine diagnostics.Biomarker research · 2025Review
- Physician knowledge, use, and perceptions of genetic biomarker testing for the management of patients with newly diagnosed advanced ovarian cancer: an international physician survey.Future oncology (London, England) · 2025Article
- Evaluation of the Oncomine Comprehensive Assay Plus NGS Panel and the OncoScan CNV Assay for Homologous Recombination Deficiency Detection.Molecular diagnosis & therapy · 2025Article
- Deep learning algorithm on H&E whole slide images to characterizeComputational and structural biotechnology journal · 2024Article
- The Role of Tumor Biomarkers in Tailoring the Approach to Advanced Ovarian Cancer.International journal of molecular sciences · 2024Review
- The Evolving Role of Genomic Testing in Early Breast Cancer: Implications for Diagnosis, Prognosis, and Therapy.International journal of molecular sciences · 2024Review
- Cost-Effectiveness Analysis of HRD Testing for Previously Treated Patients with Advanced Ovarian Cancer in Italy.Advances in therapy · 2024Article
- Prediction of homologous recombination deficiency from Oncomine Comprehensive Assay Plus correlating with SOPHiA DDM HRD Solution.PloS one · 2024Article
- A Benchmark of In-House Homologous Recombination Repair Deficiency Testing Solutions for High-Grade Serous Ovarian Cancer Diagnosis.Diagnostics (Basel, Switzerland) · 2023Article
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Authors and funding
20 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimsPoly (ADP-ribose) polymerase (PARP) inhibitors (PARPIs) represent a standard of care for the clinical management of high-grade serous ovarian cancer (HGSOC). The recognition of homologous recombination deficiency (HRD) has emerged as a predictive biomarker of response for first-line PARPIs treatment in patients with HGOSC. On the other hand, this test is extremely complex and therefore it is often externalised. Regrettably, the reliability of outsourced HRD testing can be troubled by inconclusive results and high rejection rates. In this methodological study, we assessed the technical feasibility, interassay and interlaboratory reproducibility of in-house HRD testing using three different commercially available next-generation sequencing assays.
methodsA total of n=20 epithelial ovarian cancer samples previously analysed with MyChoice CDx were subjected to HRD retesting using three different platforms in three different major pathology laboratories, that is, SOPHiA DDM HRD Solution, HRD focus and Oncomine homologous recombination repair pathway predesigned panel. Concordance was calculated by Cohen's (dual) and Fleiss (triple) κ coefficients.
resultsIn-house
conclusionsIn-house testing for HRD can be reliably performed with commercially available next-generation sequencing assays.
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