ArticlePathologica2022
In-house testing for homologous recombination repair deficiency (HRD) testing in ovarian carcinoma: a feasibility study comparing AmoyDx HRD Focus panel with Myriad myChoiceCDx assay.
Article in Pathologica, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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32 citing papers in PubMed, 42 citations in OpenAlex.
- Genomic Instability Score Across Diverse Tumor Types Using the Illumina TruSight Oncology 500 HRD Assay.Diagnostics (Basel, Switzerland) · 2026Article
- Prevalence of Homologous Recombination Deficiency and Treatment Patterns in Patients with Newly Diagnosed Advanced Ovarian Cancer in Bulgaria: A Real-World Cohort Study (VALIDATE).Medicina (Kaunas, Lithuania) · 2026Observational
- 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
- Novel driver gene MDC1 confers homologous recombination repair deficiency and genomic instability in chemoresistant relapsing ovarian cancer.Journal of translational medicine · 2026Article
- Article
- Evaluation of the 1021-HRD assay compared to established HRD testing platforms in ovarian cancer.Translational oncology · 2026Article
- Precision oncology in gynecologic cancers: molecular taxonomy, biomarker-guided therapeutics, and the challenge of therapeutic resistance.Frontiers in oncology · 2026Review
- Integrative sWGS: A New Paradigm for HRD Detection in Ovarian Cancer.International journal of molecular sciences · 2025Article
- Homologous Recombination Deficiency Testing in Women With Ovarian Cancer: An Egyptian Multicentre Study.BJOG : an international journal of obstetrics and gynaecology · 2025Article
- Performance Evaluation of a New HRD Assay (HRDsig) in Ovarian Carcinomas in Australia.Journal of clinical laboratory analysis · 2025Article
- Homologous Recombination Deficiency in Ovarian and Breast Cancers: Biomarkers, Diagnosis, and Treatment.Current issues in molecular biology · 2025Review
- Robust Assessment of Homologous Recombination Deficiency Genomic Instability by OncoScan Microarrays.The Journal of molecular diagnostics : JMD · 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
- A predictive model based on BRCA1/2, POLE, TP53, and MSH6 mutations for immunotherapy response in advanced endometrial cancer.American journal of cancer research · 2025Article
- Homologous recombination deficiency in breast cancer: genomic characteristics, clinical implications, and predictive value in neoadjuvant therapy.Frontiers in oncology · 2025Article
- Homologous recombination deficiency test validation in patients with high-grade advanced ovarian cancer.Frontiers in molecular biosciences · 2025Article
- In-house homologous recombination deficiency testing in ovarian cancer: a multi-institutional Italian pilot study.Journal of clinical pathology · 2024Article
- Precision medicine in ovarian cancer: disparities and inequities in access to predictive biomarkers.Pathologica · 2024Article
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Homologous recombination repair (HRR) is the main mechanism of repair of DNA double-strand breaks. Its deficiency (HRD) is a common feature of epithelial ovarian cancers (EOCs). BRCA1/2 mutations and/or other aberrations in genes of HRR are well known causes of HRD and genomic instability. Poly ADP-ribose polymerase inhibitors (PARPi) have revolutionized the management of BRCA mutant EOCs and demonstrated activity in HRD tumor cells. Determining HRD status can provide informations on the magnitude of benefit for PARPi therapy. Myriad MyChoice CDx is a next generation sequencing- based in vitro diagnostic test that assesses the Genomic Instability Score (GIS) which is an algorithmic measurement of loss of heterozygosity, telomeric allelic imbalance, and large-scale state transitions using DNA isolated from formalin-fixed paraffin embedded tumor tissue specimens. However Myriad MyChoice CDx, is a centrally performed and costly assay, with no reimbursement scheduled, at least in Italy. Methods: In this report, we described our experience in performing the HRD Focus AmoyDx (Amoy Diagnostics Ltd, Xiamen, Fujian, China) on the same samples of EOCs evaluated with Myriad MyChoiceCDx assay. Results: The overall percent agreement between AmoyDx and Myriad was 87.8% (65 of 74 tumors tested). All the 36 AmoyDx negative cases were confirmed to be negative by Myriad (negative predictive value, 100%). Conclusions: The concordance of the results with the gold standard Myriad MyChoice CDx assay suggest the feasibility and reliability of HRD testing in diagnostic laboratories with high-throughput NGS platforms and qualified personnel.
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