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    GENE:

    NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin))

    i
    Other names: NBN, Nibrin, Nijmegen Breakage Syndrome 1 (Nibrin), Cell Cycle Regulatory Protein P95, NBS1, NBS, P95, P95 Protein Of The MRE11/RAD50 Complex, Nijmegen Breakage Syndrome Protein 1, AT-V1, AT-V2, ATV
    4d
    SPORE: A Study of Pembrolizumab and Olaparib for People With Metastatic Pancreatic Ductal Adenocarcinoma and Homologous Recombination Deficiency or Exceptional Treatment Response to Platinum-Based Therapy (clinicaltrials.gov)
    P2, N=63, Active, not recruiting, Memorial Sloan Kettering Cancer Center | Trial completion date: Jan 2026 --> Jan 2027 | Trial primary completion date: Jan 2026 --> Jan 2027
    Trial completion date • Trial primary completion date
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • BAP1 (BRCA1 Associated Protein 1) • CHEK2 (Checkpoint kinase 2) • RAD51 (RAD51 Homolog A) • FANCA (FA Complementation Group A) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • RAD50 (RAD50 Double Strand Break Repair Protein) • BARD1 (BRCA1 Associated RING Domain 1) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • ABRAXAS1 (Abraxas 1 BRCA1 A Complex Subunit 2) • FANCC (FA Complementation Group C)
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    MSK-IMPACT
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    Keytruda (pembrolizumab) • Lynparza (olaparib)
    4d
    Risk of ovarian cancer in women with a pathogenic or likely pathogenic variant in NBN: a systematic review and meta-analysis. (PubMed, Am J Obstet Gynecol)
    There is a clear association between an NBN pathogenic variant and ovarian cancer in the White-population, and this may be stronger with non-high-grade serous carcinoma compared to high-grade serous carcinoma. Further data is required to confirm the association with family history or establish any association in the non-White population. NBN pathogenic variants could be combined with other non-genetic and genetic (polygenic-risk-score) ovarian cancer risk factors using complex ovarian cancer risk-prediction models going forward, to identify several NBN-positive women at an ovarian cancer risk level for offering surgical prevention.
    Retrospective data • Review • Journal
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    NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin))
    5d
    PARPi-PANC: Niraparib as First Line Therapy With Metastatic Homologous Repair-deficient Pancreatic Cancer (clinicaltrials.gov)
    P2, N=2, Terminated, Centre Leon Berard | Withdrawn --> Terminated; Study not feasible, patient accrual rate too low.
    Trial termination
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    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)
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    Zejula (niraparib)
    12d
    Targeted gene sequencing and bioinformatics analysis of a patient with gallbladder adenosquamous carcinoma: a case report. (PubMed, Front Oncol)
    Comparative analyses with other gallbladder carcinoma subtypes revealed GBASC to have distinct clinical phenotypes, molecular alterations, functional characteristics, and enriched signaling pathways. Moreover, there is an urgent need for standardized treatment protocols.
    Journal • Tumor mutational burden • IO biomarker
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    EGFR (Epidermal growth factor receptor) • TMB (Tumor Mutational Burden) • KMT2A (Lysine Methyltransferase 2A) • KMT2D (Lysine Methyltransferase 2D) • NF2 (Neurofibromin 2) • CDK6 (Cyclin-dependent kinase 6) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • LATS2 (Large Tumor Suppressor Kinase 2) • RECQL4( RecQ Like Helicase 4) • EXT1 (Exostosin Glycosyltransferase 1)
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    EGFR mutation • ATM mutation
    26d
    Prevalence and Clinical Associations of Germline DDR Variants in Prostate Cancer: Real-World Evidence from a 122-Patient Turkish Cohort. (PubMed, Genes (Basel))
    Germline DDR alterations-most notably in BRCA2, CHEK2, and ATM-were present in a substantial subset of Turkish men with PCa and showed a non-significant trend toward clustering in higher-grade disease. The high prevalence of VUS reflects limited genomic annotation in under-represented populations and underscores the need for longitudinal reinterpretation. These data support the clinical value of incorporating germline DDR testing into risk assessment and familial counseling, while larger cohorts integrating somatic profiling are needed to refine genotype-phenotype associations.
    Journal • HEOR • Real-world evidence • BRCA Biomarker
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • CHEK2 (Checkpoint kinase 2) • RAD50 (RAD50 Double Strand Break Repair Protein) • MSH3 (MutS Homolog 3) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin))
    30d
    Niraparib in Tumors Metastatic to the CNS (clinicaltrials.gov)
    P2, N=20, Active, not recruiting, Massachusetts General Hospital | Trial primary completion date: Dec 2025 --> Dec 2026
    Trial primary completion date
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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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    HRD • ATM mutation • PALB2 mutation • BRIP1 mutation • RAD51C mutation • RAD51D mutation • RAD51B mutation • BARD1 mutation • RAD54L mutation
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    Zejula (niraparib)
    1m
    Nivolumab + Docetaxel + ADT in mHSPC Patients With DDRD or Inflamed Tumors (clinicaltrials.gov)
    P2, N=60, Active, not recruiting, Xiao X. Wei, MD | Trial completion date: Dec 2025 --> Jun 2026
    Trial completion date
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    PD-L1 (Programmed death ligand 1) • BRCA1 (Breast cancer 1, early onset) • MSI (Microsatellite instability) • CD8 (cluster of differentiation 8) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • CDK12 (Cyclin dependent kinase 12) • CHEK2 (Checkpoint kinase 2) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • ABRAXAS1 (Abraxas 1 BRCA1 A Complex Subunit 2) • GEN1 (GEN1 Holliday junction 5' flap endonuclease)
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    PD-L1 expression • MSI-H/dMMR
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    OncoPanel™ Assay
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    Opdivo (nivolumab) • docetaxel • goserelin acetate • Firmagon (degarelix) • leuprolide acetate for depot suspension
    1m
    Phosphoproteome landscape of ARID1A and its implications in DNA damage response and breast cancer pathogenesis. (PubMed, Discov Oncol)
    This study enhances our understanding of ARID1A regulatory mechanisms, highlighting its phosphorylation as a key driver of breast cancer biology. Future research should validate these kinase-substrate interactions and explore their transcriptional and chromatin-level impacts to develop precision therapies for ARID1A-dysregulated cancers.
    Journal
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    ER (Estrogen receptor) • ARID1A (AT-rich interaction domain 1A) • PBRM1 (Polybromo 1) • TOP2A (DNA topoisomerase 2-alpha) • CHEK2 (Checkpoint kinase 2) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • BRD4 (Bromodomain Containing 4) • TP53BP1 (Tumor Protein P53 Binding Protein 1) • MAPK14 (Mitogen-Activated Protein Kinase 14) • MAPK9 (Mitogen-Activated Protein Kinase 9)
    1m
    Fluzoparib as Adjuvant Treatment in Patients With Germline Homologous Recombination Repair (HRR) Mutated Primary Breast Cancer (Flamenco) (clinicaltrials.gov)
    P2, N=334, Not yet recruiting, Fudan University
    New P2 trial • IO biomarker
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    HER-2 (Human epidermal growth factor receptor 2) • PGR (Progesterone receptor) • RAD51 (RAD51 Homolog A) • 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) • RAD51D (RAD51 paralog D) • BARD1 (BRCA1 Associated RING Domain 1) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • RAD54L (DNA Repair And Recombination Protein RAD54) • FANCM (FA Complementation Group M) • RAD52 (RAD52 Homolog DNA Repair Protein) • RPA1 (Replication Protein A1) • PARP2 (Poly(ADP-Ribose) Polymerase 2)
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    HER-2 negative • PALB2 mutation • PGR positive • BRIP1 mutation • RAD51C mutation • RAD51D mutation • RAD51B mutation • BARD1 mutation • RAD54L mutation
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    capecitabine • AiRuiYi (fluzoparib)
    1m
    Genetic tumor syndromes in female cancer: insights into inherited cancer predisposition and clinical implications. (PubMed, Arch Gynecol Obstet)
    This review provides a comprehensive overview of hereditary tumor syndromes predisposing to breast and gynecologic malignancies, with a focus on genetic basis, associated cancer risks, and implications for clinical management. By delineating these syndromes, it aims to assist clinicians in recognizing hereditary cancer predisposition and in guiding affected individuals within routine senologic and gynecologic practice.
    Review • Journal • BRCA Biomarker • PARP Biomarker
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • 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) • CHEK2 (Checkpoint kinase 2) • 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)) • DICER1 (Dicer 1 Ribonuclease III)
    2ms
    TBCRC 048: Olaparib In Metastatic Breast Cancer (clinicaltrials.gov)
    P2, N=114, Active, not recruiting, Beth Israel Deaconess Medical Center | Trial completion date: Dec 2025 --> Jun 2026
    Trial completion date
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    PGR (Progesterone receptor) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • BRCA (Breast cancer early onset) • CHEK2 (Checkpoint kinase 2) • FANCA (FA Complementation Group A) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • RAD50 (RAD50 Double Strand Break Repair Protein) • RAD51D (RAD51 paralog D) • BARD1 (BRCA1 Associated RING Domain 1) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • FANCF (FA complementation group F) • FANCM (FA Complementation Group M) • FANCD2 (FA Complementation Group D2) • FANCE (FA Complementation Group E) • FANCC (FA Complementation Group C)
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    HR positive • PALB2 mutation • PGR positive • BRCA mutation
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    Lynparza (olaparib)
    2ms
    Complex Relationships Between Homologous Recombination Deficiency (HRD) Score and Mutational Status of Homologous Recombination Repair (HRR) Genes in Prostate Carcinomas. (PubMed, Int J Mol Sci)
    The majority of CDK12-mutated tumors exhibited a distinct type of copy number variations (CNV)-a tandem duplication phenotype. Our study suggests that the selection of PC patients for PARPi treatment requires a significant revision of existing attitudes towards tumor genetic profiling.
    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) • PALB2 (Partner and localizer of BRCA2) • CDK12 (Cyclin dependent kinase 12) • CHEK2 (Checkpoint kinase 2) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • FANCM (FA Complementation Group M)
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    HRD • ATM mutation • PALB2 mutation • CDK12 mutation • CHEK2 mutation • BRIP1 mutation