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    GENE:

    HRD (Homologous Recombination Deficiency)

    i
    Other names: HRD, Homologous Recombination Deficiency, HRR, Homologous recombination repair
    1d
    Spatial immune profiling complements genomic sequencing in biliary tract cancer: hypothesis-generating use cases. (PubMed, ESMO Gastrointest Oncol)
    In contrast, a patient with loss of BAP1 was linked to a CD8+ T-cell enriched tumor microenvironment, classified as spatially immune enriched and responded long-term to subsequent immune checkpoint inhibition and tyrosine kinase inhibition therapy. These observations provide a rationale for integrated genomic and spatial immune profiling in BTC, which will require further prospective validation.
    Journal • BRCA Biomarker • IO biomarker
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    BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • CD8 (cluster of differentiation 8) • BAP1 (BRCA1 Associated Protein 1)
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    BRCA2 mutation • HRD
    2d
    Comparative Analysis of Homologous Recombination Repair Status Across Gynecologic and Breast Cancers in Chinese Populations. (PubMed, Curr Cancer Drug Targets)
    The mutational patterns affecting homologous recombination repair differ across gynecologic and breast cancers. Further research into cancer-specific HRD mechanisms is warranted.
    Journal • Tumor mutational burden • BRCA Biomarker • PARP Biomarker
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    TP53 (Tumor protein P53) • 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) • HRD (Homologous Recombination Deficiency) • JAK2 (Janus kinase 2) • PALB2 (Partner and localizer of BRCA2) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • BRCA (Breast cancer early onset) • EPHA5 (EPH Receptor A5)
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    TP53 mutation • BRCA2 mutation • BRCA1 mutation • PIK3CA mutation • HRD • PALB2 mutation • BRCA mutation
    2d
    Investigating the contribution of rare non-coding variants in BRCA1, BRCA2 and PALB2 to hereditary breast cancer. (PubMed, NPJ Breast Cancer)
    Tumor sequencing of 42 high-priority variants identified 11 (26.2%) with wild-type allele loss and high homologous recombination deficiency. Functional CRISPR/Cas9 knock-in assays in MCF10A cells confirmed that two deep intronic variants created aberrant splice sites, disrupted splicing and impacted transcript expression.
    Journal • BRCA Biomarker
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • PALB2 (Partner and localizer of BRCA2)
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    HRD
    3d
    Immunotherapy advancements in high-grade serous ovarian cancer: From promise to practice. (PubMed, Crit Rev Oncol Hematol)
    ADCs are leading current clinical advances. Future priorities include biomarker-driven trial designs, strategic treatment sequencing, and innovative combination strategies to maximize therapeutic benefit while minimizing toxicity.
    Review • Journal • Tumor mutational burden • PARP Biomarker • PD(L)-1 Biomarker • IO biomarker
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    PD-L1 (Programmed death ligand 1) • TMB (Tumor Mutational Burden) • HRD (Homologous Recombination Deficiency) • FOLR1 ( Folate receptor alpha )
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    PD-L1 expression • HRD
    4d
    Survival in Patients With Low Expression of Wild-Type Homologous Recombination Genes: Refining the Homologous Recombination Paradigm in Colorectal Cancer. (PubMed, JCO Precis Oncol)
    Low BLM RNA expression is associated with improved survival after treatment with DNA-damaging agents, whereas low RAD51 expression shows a favorable but nonsignificant trend. These findings are exploratory and suggest that RNA-based HR gene expression may warrant further investigation as a potential prognostic biomarker in metastatic CRC.
    Journal • MSi-H Biomarker
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    MSI (Microsatellite instability) • HRD (Homologous Recombination Deficiency) • RAD51 (RAD51 Homolog A)
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    MSI-H/dMMR • HRD
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    5-fluorouracil • oxaliplatin • irinotecan • leucovorin calcium
    4d
    Differential sensitivity of MCPH1- and BRCA2-deficient cancer cells to PARP-1 inhibition. (PubMed, PLoS One)
    In contrast, BRCA2-deficient cells showed a far greater defect in HRR and consistent sensitivity to both PARP-1 inhibitors, which was not enhanced by co-depletion of MCPH1. These data suggest that the magnitude of HRR defect in cancer cells influences PARP-1 inhibitor sensitivity and BRCA2 retains significant functionality in the absence of MCPH1.
    Journal
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • RAD51 (RAD51 Homolog A)
    4d
    Real-world outcomes following PARP inhibitor maintenance in ovarian cancer by BRCA status: a retrospective cohort study. (PubMed, ESMO Real World Data Digit Oncol)
    The study underscores previous concerns that initiating PARPi in the first line may impact treatment duration and intervals for subsequent therapies in patients with ovarian cancer. Future investigations should explore the interplay of PARPi maintenance in the first-line setting, HRD status, and response to subsequent platinum-based therapies.
    Retrospective data • Journal • Real-world evidence • BRCA Biomarker • PARP Biomarker
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    HRD (Homologous Recombination Deficiency) • BRCA (Breast cancer early onset)
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    HRD • BRCA mutation
    4d
    How artificial intelligence applied to digital pathology could guide treatment personalization in breast cancer. (PubMed, ESMO Real World Data Digit Oncol)
    Continued effort to address these barriers and improve AI reliability are crucial. Emerging AI tools, including agent-driven systems, point towards the potential integration of CP into routine clinical workflow practice, even though clinical validation has not yet been established.
    Review • Journal
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    PD-L1 (Programmed death ligand 1) • ER (Estrogen receptor) • PGR (Progesterone receptor) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency)
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    HRD
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    Oncotype DX Breast Recurrence Score®Test
    4d
    Roles of ADP-Ribosyltransferases in Cancer. (PubMed, Oncol Res)
    Four PARP inhibitors, olaparib, niraparib, rucaparib, are approved by the Food and Drug Administration (FDA) approved. Despite these advances, selective inhibitors for ARTs remain underexplored. Ongoing research focuses on overcoming PARP inhibitor resistance, improving biomarker-driven patient selection, and expanding therapeutic strategies that target ART-related pathways.
    Review • Journal • BRCA Biomarker • PARP Biomarker
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • CD8 (cluster of differentiation 8) • PARP2 (Poly(ADP-Ribose) Polymerase 2)
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    BRCA2 mutation • HRD
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    Lynparza (olaparib) • Zejula (niraparib) • Rubraca (rucaparib)
    5d
    Clinicopathologic and molecular predictors of survival in BRCA-deficient tubo-ovarian high-grade serous carcinoma. (PubMed, Nat Commun)
    BRCA1-deficient tumors in short survivors have evidence of immunosuppressive c-kit signaling and EMT. Our findings confirm that outcome is not determined by BRCA status alone, but rather a combination of co-occurring genomic alterations, the extent of DNA repair deficiency, and the tumor-immune microenvironment.
    Journal • BRCA Biomarker
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    PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MYC (V-myc avian myelocytomatosis viral oncogene homolog) • KIT (KIT proto-oncogene, receptor tyrosine kinase) • HRD (Homologous Recombination Deficiency) • NF1 (Neurofibromin 1) • BRCA (Breast cancer early onset) • RAD21 (RAD21 Cohesin Complex Component) • DRD (DNA Repair Deficiency)
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    HRD • DDR • BRCA mutation
    6d
    Sacituzumab Govitecan With Bevacizumab Compared to Usual Chemotherapy (Carboplatin, Pegylated Liposomal Doxorubicin and Bevacizumab) for Treating Recurrent Platinum-Sensitive Ovarian Cancer After PARP Inhibitor Maintenance Therapy (clinicaltrials.gov)
    P2, N=87, Not yet recruiting, National Cancer Institute (NCI)
    New P2 trial • Platinum sensitive
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency)
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    BRCA2 mutation • BRCA1 mutation • HRD
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    Avastin (bevacizumab) • carboplatin • gemcitabine • pegylated liposomal doxorubicin • Trodelvy (sacituzumab govitecan-hziy) • Aybintio (bevacizumab biosimilar) • Vegzelma (bevacizumab-adcd) • Avzivi (bevacizumab-tnjn) • Myocet (non-pegylated liposomal doxorubicin) • Duomeisu (pegylated liposomal doxorubicin)