^
    21d
    Integrative sWGS: A New Paradigm for HRD Detection in Ovarian Cancer. (PubMed, Int J Mol Sci)
    This first comprehensive analysis of Romanian ovarian cancer patients suggests that integrating sWGS-based genomic instability assessment with BRCA testing can improve HRD detection and reflects the heterogeneity of HR-pathway variants. Preliminary clinical observations were consistent with known HRD-associated treatment responses, although larger studies are needed to confirm these findings.
    Journal • BRCA Biomarker • PARP Biomarker • PD(L)-1 Biomarker • IO biomarker
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    TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MSI (Microsatellite instability) • ATM (ATM serine/threonine kinase) • HRD (Homologous Recombination Deficiency) • BRCA (Breast cancer early onset) • CHEK2 (Checkpoint kinase 2) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • BARD1 (BRCA1 Associated RING Domain 1)
    |
    HRD • BRCA wild-type
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    Myriad myChoice® CDx
    25d
    Validation of the SOPHiA DDM HRD Solution as a Companion Diagnostic for PARPi Access in Australia. (PubMed, J Mol Diagn)
    Neither inconclusiveness nor discordance were associated with sample related factors. These findings indicate that the SOPHiA HRD assay can provide results broadly interchangeable with Myriad myChoice, though caution is warranted when assigning HRD status to borderline GI values.
    Journal • Companion diagnostic • BRCA Biomarker • PARP Biomarker • BRCA Companion diagnostic • PARP Companion diagnostic
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • BRCA (Breast cancer early onset)
    |
    HRD • BRCA mutation
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    Myriad myChoice® CDx • SOPHiA DDM HRD Solution
    2ms
    Evaluation of the 1021-HRD assay compared to established HRD testing platforms in ovarian cancer. (PubMed, Transl Oncol)
    Its combined format and accessibility render it well-suited for real-world use in personalized ovarian cancer care. Its additional capacity to reveal more extensive tumor genomic alterations improves clinical decision-making and underscores the importance of integrating HRD scoring with comprehensive molecular profiling in personalized oncology.
    Journal • BRCA Biomarker • PARP Biomarker
    |
    HRD (Homologous Recombination Deficiency) • BRCA (Breast cancer early onset)
    |
    HRD • BRCA wild-type
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    Myriad myChoice® CDx
    2ms
    Clinical and molecular determinants of response to maintenance olaparib for primary and recurrent epithelial ovarian carcinoma. (PubMed, Clin Transl Oncol)
    LT response to olaparib for primary maintenance is common, and more frequently observed in patients with a complete response to platinum-based chemotherapy. BRCA2 mutations conferred exceptional benefit to olaparib. Durable benefit was more commonly observed in patient's receiving frontline maintenance olaparib.
    Journal • BRCA Biomarker • PARP Biomarker
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency)
    |
    HRD
    |
    Myriad myChoice® CDx
    |
    Lynparza (olaparib)
    5ms
    Homologous Recombination Deficiency in Ovarian and Breast Cancers: Biomarkers, Diagnosis, and Treatment. (PubMed, Curr Issues Mol Biol)
    Regional variations (e.g., Asian cohorts) and disparities in access underscore the need for standardized, cost-effective diagnostics. Future priorities include validating novel biomarkers (SBS39, miR-622) and combination therapies (PARPi with ATR inhibitors) to overcome resistance and broaden HRD's applicability across cancers.
    Review • Journal • BRCA Biomarker • PARP Biomarker
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • PALB2 (Partner and localizer of BRCA2) • BRCA (Breast cancer early onset) • RAD51 (RAD51 Homolog A) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • MIR622 (MicroRNA 622) • SETD1A (SET Domain Containing 1A)
    |
    HRD
    |
    FoundationOne® CDx • Myriad myChoice® CDx
    7ms
    Geneva Homologous Recombination Deficiency Test Is Predictive of Survival Benefit From Olaparib and Bevacizumab Maintenance in Ovarian Cancer. (PubMed, JCO Precis Oncol)
    The Geneva HRD test predicts PFS and OS benefit from olaparib + bevacizumab. The potential detrimental effect of olaparib + bevacizumab on OS in the HRD-negative population is hypothesis-generating and needs to be confirmed prospectively.
    Clinical • Journal
    |
    HRD (Homologous Recombination Deficiency)
    |
    HRD
    |
    Myriad myChoice® CDx
    |
    Avastin (bevacizumab) • Lynparza (olaparib)
    7ms
    Homologous recombination deficiency (HRD) tests for ovarian cancer: a multicenter French phase II study (HERO). (PubMed, BMC Cancer)
    Use of next-generation sequencing (NGS) to identify clinically actionable genomic targets has been incorporated into routine clinical practice in the management of advanced solid tumors and in particular ovarian cancer. Developing new assays is part of the missions of the molecular genetics platforms to improve accessibility and reduce cost compared to non-academic assays.
    P2 data • Journal • PARP Biomarker
    |
    HRD (Homologous Recombination Deficiency) • MUC16 (Mucin 16, Cell Surface Associated)
    |
    HRD
    |
    Myriad myChoice® CDx
    |
    Avastin (bevacizumab) • Lynparza (olaparib)
    8ms
    Niraparib and Selenium for the Treatment of Recurrent BRCA Negative Platinum Resistant Ovarian Cancer (clinicaltrials.gov)
    P1/2, N=0, Withdrawn, City of Hope Medical Center | N=45 --> 0 | Not yet recruiting --> Withdrawn
    Enrollment change • Trial withdrawal • Platinum resistant
    |
    BRCA (Breast cancer early onset)
    |
    BRCA wild-type
    |
    Myriad myChoice® CDx
    |
    Zejula (niraparib)
    9ms
    Whole-exome sequencing provides assessment of homologous recombination deficiency for identification of PARPi-responsive ovarian tumors. (PubMed, Gynecol Oncol)
    The use of a WES assay to assess BRCA results, along with a GSS method incorporating gLOH and LST, produced a HRD test that is predictive for PARPi therapy.
    Journal • BRCA Biomarker • PARP Biomarker
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • BRCA (Breast cancer early onset)
    |
    HRD • BRCA wild-type • BRCA mutation
    |
    Myriad myChoice® CDx • OncoScan™ CNV Assay
    10ms
    BRCA1 Promoter Methylation in Ovarian Cancer: Clinical Relevance and a Novel Diagnostic Approach Using Fragment Analysis. (PubMed, Cancer Sci)
    BRCA1-FAM is a simple and highly accurate method for evaluating BRCA1 promoter methylation. This approach may potentially enhance the precision of personalized therapies for ovarian cancer.
    Journal • BRCA Biomarker • PARP Biomarker • BRCA Companion diagnostic • PARP Companion diagnostic
    |
    BRCA1 (Breast cancer 1, early onset) • HRD (Homologous Recombination Deficiency)
    |
    HRD
    |
    Myriad myChoice® CDx
    10ms
    Robust assessment of HRD genomic instability by OncoScan microarrays. (PubMed, J Mol Diagn)
    The availability of HRD determination has doubled the number of patients eligible for PARP therapy. The assay can be conveniently performed on individual samples, and the open-access online platform facilitates HRD determination without the need for specialized bioinformatics support.
    Journal • PARP Biomarker
    |
    HRD (Homologous Recombination Deficiency)
    |
    HRD
    |
    Myriad myChoice® CDx • OncoScan™ CNV Assay
    11ms
    Evaluative Methodology for HRD Testing: Development of Standard Tools for Consistency Assessment. (PubMed, Genomics Proteomics Bioinformatics)
    This study also identified specific challenges in ASCNV detection in HRD-related regions and the profound impact of high ploidy on consistency. The established HRD reference materials and datasets provide a robust toolkit for objective evaluation of HRD testing.
    Journal
    |
    HRD (Homologous Recombination Deficiency)
    |
    HRD
    |
    Myriad myChoice® CDx