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    BIOMARKER:

    HRD signature

    i
    Other names: HRD, Homologous Recombination Deficiency
    Related biomarkers:
    Others
    1year
    Niraparib in Tumors Metastatic to the CNS (clinicaltrials.gov)
    P2, N=20, Recruiting, Massachusetts General Hospital | Trial completion date: Dec 2026 --> Jun 2027 | Trial primary completion date: Dec 2024 --> Dec 2025
    Trial completion date • Trial primary completion date • Metastases
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • BAP1 (BRCA1 Associated Protein 1) • RAD51B (RAD51 Paralog B) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • RAD50 (RAD50 Double Strand Break Repair Protein) • PARP1 (Poly(ADP-Ribose) Polymerase 1) • BARD1 (BRCA1 Associated RING Domain 1) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • RAD54L (DNA Repair And Recombination Protein RAD54) • XRCC2 (X-Ray Repair Cross Complementing 2) • RAD54B (RAD54 Homolog B) • XRCC3 (X-Ray Repair Cross Complementing 3)
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    BRCA1 mutation • HRD • ATM mutation • PALB2 mutation • BAP1 mutation • BRIP1 mutation • HRD + BRCA1 mutation • RAD51C mutation • RAD51D mutation • RAD50 mutation • RAD51B mutation • BARD1 mutation • MRE11A mutation • RAD54L mutation • NBN mutation • HRD signature
    |
    Zejula (niraparib)
    1year
    Whole genome profiling of primary and metastatic adrenocortical carcinoma unravels significant molecular events. (PubMed, Pathol Res Pract)
    Comparative analysis between conventional and oncocytic ACC subtypes revealed no significant differences in mutation load, microsatellite instability, or specific gene enrichment. This comprehensive WGS analysis broadens the spectrum of genomic alterations in ACC, highlighting potential molecular targets and differences across subtypes that may inform future therapeutic strategies.
    Journal • Tumor mutational burden • Metastases
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    TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • HRD (Homologous Recombination Deficiency) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • RB1 (RB Transcriptional Corepressor 1) • NF1 (Neurofibromin 1) • JAK1 (Janus Kinase 1) • RAD51 (RAD51 Homolog A) • ZNF501 (Zinc Finger Protein 501)
    |
    TP53 mutation • HRD • HRD signature
    1year
    Optimizing Genomic Profiling: A Comparative Study of Chromosomal Microarray (CMA) and a 505-Gene NGS Panel for HRD Phenotype Assessment across Diverse Solid Tumor Types Using NxClinical (AMP 2024)
    NGS, with its capacity for comprehensive genomic analysis, excels in detecting diverse genetic alterations, offering superior resolution compared to CMA. This study supports the use of the PGDx elio tissue complete panel as a compelling alternative to CMA, showcasing its accuracy in assessing the HRD phenotype. The observed high concordance rate further enhances its value in the clinical diagnostic setting.
    Next-generation sequencing
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    HRD (Homologous Recombination Deficiency)
    |
    HRD • HRD signature
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    PGDx elio™ tissue complete assay
    1year
    Comparative Analysis of Variant Reporting and HRD Performance: Evaluating AVENIO Tumor Tissue CGP Automated Assay Against F1CDx Assay and PGDx elio Test (AMP 2024)
    The AVENIO CGP Assay demonstrated high agreement with 2 established CGP tests, F1CDx and PGDx, in variant reporting, and closely aligned with F1CDx in HRDsig analysis across various tissue types. These results highlight the assay's reliability and demonstrate its utility in translational research.
    Tumor mutational burden
    |
    HER-2 (Human epidermal growth factor receptor 2) • ALK (Anaplastic lymphoma kinase) • TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • NTRK2 (Neurotrophic tyrosine kinase, receptor, type 2) • HRD (Homologous Recombination Deficiency)
    |
    HER-2 amplification • HRD • ALK rearrangement • RET rearrangement • HRD signature
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    FoundationOne® CDx • AVENIO Tumor Tissue CGP Kit • PGDx elio™ tissue complete assay
    1year
    Analytical Validation of a Homologous Recombination Deficiency Signature (HRDsig) in Pan-Tumor Tissue Samples (AMP 2024)
    The analytical validation results demonstrate the high analytical concordance compared to an independent HRD biomarker, low false positive rate, high reproducibility, and robustness to interfering substances of HRDsig calling.
    Pan tumor
    |
    HRD (Homologous Recombination Deficiency)
    |
    HRD • HRD signature
    |
    FoundationOne® CDx
    1year
    Simplifying the AVENIO Tumor Tissue CGP Manual Workflow: Performance of HRD, TMB, and MSI Signature Detection (AMP 2024)
    As evidence for multi-biomarker and complex genomic signatures grows in precision oncology, molecular pathology labs must evolve their sequencing capabilities with the latest innovation. The new AVENIO Tumor Tissue CGP Kit V2 demonstrates high performance and incorporates faster workflows, higher throughput, improved bioinformatics algorithms, and successful incorporation of a new HRD signature.
    Tumor mutational burden
    |
    TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • HRD (Homologous Recombination Deficiency)
    |
    HRD • HRD signature • High HRD score
    |
    AVENIO Tumor Tissue CGP Kit
    1year
    Comprehensive Genomic Profiling in Oncology: Clinical Applications of Target-Enhanced Whole-Genome Sequencing (AMP 2024)
    TE-WGS enriches the genomic landscape accessible to clinicians, enhancing personalized treatment strategies in precision oncology through comprehensive and actionable genomic profiling.
    Clinical • Tumor mutational burden • Whole genome sequencing
    |
    TMB (Tumor Mutational Burden) • HRD (Homologous Recombination Deficiency)
    |
    HRD • HRD signature
    |
    CancerVision
    1year
    Prevalence of actionable genomic alterations (GA) and predictive value of tumor mutational burden (TMB) for immune checkpoint inhibitor (ICI) effectiveness in HR(+)HER2(-) metastatic breast cancer (MBC) (SABCS 2024)
    Background: Pembrolizumab, an anti-PD1 antibody ICI is an FDA-approved option for patients with HR(+)HER2(-) MBC who have exhausted standard of care options and have high TMB (≥10 mut/mb, FoundationOne®CDx)... About 70% of TBx harbor at least one GA with established clinical utility. Pts with TMB10+ vs. TMB<10 had more favorable PFS and rwOS on ICI.
    Checkpoint inhibition • Tumor mutational burden • PD(L)-1 Biomarker • MSi-H Biomarker • BRCA Biomarker • IO biomarker • Metastases
    |
    HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MSI (Microsatellite instability) • PTEN (Phosphatase and tensin homolog) • HRD (Homologous Recombination Deficiency) • AKT1 (V-akt murine thymoma viral oncogene homolog 1) • PALB2 (Partner and localizer of BRCA2) • NTRK (Neurotrophic receptor tyrosine kinase)
    |
    BRCA2 mutation • BRCA1 mutation • TMB-H • MSI-H/dMMR • PIK3CA mutation • HRD • PALB2 mutation • HRD + BRCA1 mutation • AKT1 mutation • HRD signature • BRCA1 fusion
    |
    FoundationOne® CDx
    |
    Keytruda (pembrolizumab)
    1year
    Single-Hit and Multi-hit PIK3CA Short Variant Genomic Alterations in Clinically Advanced Prostate Cancer: A Genomic Landscape Study. (PubMed, Target Oncol)
    Identification of multi-hit PIK3CA GA in CAPC highlights a potentially unique phenotype that may be associated with response to anti-PIK3CA targeted therapy and checkpoint inhibition, supporting relevant clinical trial designs.
    Journal • Tumor mutational burden • PD(L)-1 Biomarker • MSi-H Biomarker • BRCA Biomarker • IO biomarker • Metastases
    |
    PD-L1 (Programmed death ligand 1) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • BRCA2 (Breast cancer 2, early onset) • MSI (Microsatellite instability) • PTEN (Phosphatase and tensin homolog) • HRD (Homologous Recombination Deficiency)
    |
    PD-L1 expression • MSI-H/dMMR • PIK3CA mutation • HRD • PIK3CA wild-type • HRD signature
    |
    PD-L1 IHC 22C3 pharmDx
    1year
    PARPi-PANC: Niraparib As First Line Therapy with Metastatic Homologous Repair-deficient Pancreatic Cancer (clinicaltrials.gov)
    P2, N=0, Withdrawn, Centre Leon Berard | N=28 --> 0 | Recruiting --> Withdrawn
    Enrollment change • Trial withdrawal • Metastases
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • FANCA (FA Complementation Group A) • RAD51B (RAD51 Paralog B) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • BARD1 (BRCA1 Associated RING Domain 1) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • RAD54L (DNA Repair And Recombination Protein RAD54) • FANCL (FA Complementation Group L) • PPP2R2A (Protein Phosphatase 2, Regulatory Subunit B, Alpha) • FANCD2 (FA Complementation Group D2)
    |
    HRD signature
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    Zejula (niraparib)
    1year
    Analytic concordance of a novel pan-tumour HRD signature biomarker between AVENIO tumour tissue CGP Kit V2 and FoundationOneCDx (ECP 2024)
    The addition of HRDsig to the AVENIO® Tumour Tissue CGP Kit V2 provides a robust pan-tumour HRD biomarker, with a high degree of concordance to F1CDx, and provides a tissue biopsy CGP solution for translational and research clinical laboratories globally that does not require additional wet lab steps or samples. The high correlation values indicate similar scores by both assays and results in high PPA and NPA for HRDsig positivity across tumour types.
    Pan tumor • Discordant
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    HRD (Homologous Recombination Deficiency)
    |
    HRD • HRD signature
    |
    FoundationOne® CDx
    1year
    Triple-Negative Breast Cancer: Molecular Particularities Still a Challenge. (PubMed, Diagnostics (Basel))
    This ongoing research is essential for improving the management and outcomes of TNBC, which is a challenging and heterogeneous form of breast cancer. The findings of this research have practical implications for refining treatment strategies, particularly in selecting appropriate systemic therapies and integrating traditional treatment modalities like surgery and radiotherapy into comprehensive care plans for TNBC patients.
    Review • Journal
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    DRD (DNA Repair Deficiency)
    |
    DDR • DRD • HRD signature