High concordance of different assays in the determination of homologous recombination deficiency - associated genomic instability in ovarian cancer
Purpose - Poly(ADP-ribose) polymerase inhibitors (PARPi) have shown promising clinical results in the treatment of ovarian cancer. Analysis of biomarker subgroups consistently revealed higher benefits for patients with homologous recombination deficiency (HRD). The test that is most often used for t...
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| Hauptverfasser: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
December 2024
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| In: |
JCO precision oncology
Year: 2024, Heft: 8, Pages: 1-12 |
| ISSN: | 2473-4284 |
| DOI: | 10.1200/PO.23.00348 |
| Online-Zugang: | Verlag, kostenfrei, Volltext: https://doi.org/10.1200/PO.23.00348 Verlag, kostenfrei, Volltext: https://ascopubs.org/doi/10.1200/PO.23.00348 
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| Verfasserangaben: | Nicole Pfarr, MSc; Karin von Schwarzenberg, PhD; Dario Zocholl, MSc; Sabine Merkelbach-Bruse, PhD; Janna Siemanowski, PhD; Eva-Maria Mayr, MSc; Sylvia Herold, PhD; Karsten Kleo, PhD ; Lukas C. Heukamp; Eva-Maria Willing, PhD; Michael Menzel, PhD; Ulrich Lehmann, PhD; Stephan Bartels, PhD; Shounak Chakraborty, PhD; Gustavo Baretton; Melanie C. Demes, PhD; Claudia Döring, PhD; Daniel Kazdal; Jan Budczies, PhD; Roland Rad, MD; Peter Wild, MD; Yann Christinat, PhD; Thomas McKee, PhD; Peter Schirmacher, MD; David Horst, MD; Reinhard Büttner, MD; Albrecht Stenzinger, MD; Jalid Sehouli, MD; Claudia Vollbrecht, PhD; Michael Hummel, PhD; Elena I. Braicu, MD; and Wilko Weichert, MD; on behalf of the German HRD assay Harmonization Consortium |
MARC
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| 245 | 1 | 0 | |a High concordance of different assays in the determination of homologous recombination deficiency - associated genomic instability in ovarian cancer |c Nicole Pfarr, MSc; Karin von Schwarzenberg, PhD; Dario Zocholl, MSc; Sabine Merkelbach-Bruse, PhD; Janna Siemanowski, PhD; Eva-Maria Mayr, MSc; Sylvia Herold, PhD; Karsten Kleo, PhD ; Lukas C. Heukamp; Eva-Maria Willing, PhD; Michael Menzel, PhD; Ulrich Lehmann, PhD; Stephan Bartels, PhD; Shounak Chakraborty, PhD; Gustavo Baretton; Melanie C. Demes, PhD; Claudia Döring, PhD; Daniel Kazdal; Jan Budczies, PhD; Roland Rad, MD; Peter Wild, MD; Yann Christinat, PhD; Thomas McKee, PhD; Peter Schirmacher, MD; David Horst, MD; Reinhard Büttner, MD; Albrecht Stenzinger, MD; Jalid Sehouli, MD; Claudia Vollbrecht, PhD; Michael Hummel, PhD; Elena I. Braicu, MD; and Wilko Weichert, MD; on behalf of the German HRD assay Harmonization Consortium |
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| 520 | |a Purpose - Poly(ADP-ribose) polymerase inhibitors (PARPi) have shown promising clinical results in the treatment of ovarian cancer. Analysis of biomarker subgroups consistently revealed higher benefits for patients with homologous recombination deficiency (HRD). The test that is most often used for the detection of HRD in clinical studies is the Myriad myChoice assay. However, other assays can also be used to assess biomarkers, which are indicative of HRD, genomic instability (GI), and BRCA1/2 mutation status. Many of these assays have high potential to be broadly applied in clinical routine diagnostics in a time-effective decentralized manner. Here, we compare the performance of a multitude of alternative assays in comparison with Myriad myChoice in high-grade serous ovarian cancer (HGSOC). - Methods - DNA from HGSOC samples was extracted from formalin-fixed paraffin-embedded tissue blocks of cases previously run with the Myriad myChoice assay, and GI was measured by multiple molecular assays (CytoSNP, AmoyDx, Illumina TSO500 HRD, OncoScan, NOGGO GISv1, QIAseq HRD Panel and whole genome sequencing), applying different bioinformatics algorithms. - Results - Application of different assays to assess GI, including Myriad myChoice, revealed high concordance of the generated scores ranging from very substantial to nearly perfect fit, depending on the assay and bioinformatics pipelines applied. Interlaboratory comparison of assays also showed high concordance of GI scores. - Conclusion - Assays for GI assessment not only show a high concordance with each other but also in correlation with Myriad myChoice. Thus, almost all of the assays included here can be used effectively to assess HRD-associated GI in the clinical setting. This is important as PARPi treatment on the basis of these tests is compliant with European Medicines Agency approvals, which are methodologically not test-bound. | ||
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