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    GENE:

    BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1)

    i
    Other names: BRCA1 Interacting Protein C-Terminal Helicase 1, BRCA1-Associated C-Terminal Helicase 1, BRCA1/BRCA2-Associated Helicase 1, ATP-Dependent RNA Helicase BRIP1, Fanconi Anemia Group J Protein, BACH1, FANCJ, BRCA1-Binding Helicase-Like Protein BACH1, BRCA1-Interacting Protein 1, Protein FACJ, BRCA1 Interacting Protein C-terminal Helicase 1
    7d
    Clinical and Prognostic Relevance of BRIP1 Expression in Colorectal Cancer: Evidence from TCGA and Korean Cohorts. (PubMed, Medicina (Kaunas))
    Lower BRIP1 mRNA expression is significantly associated with aggressive clinicopathological features and poor prognosis in CRC. BRIP1 may serve as a promising biomarker for risk stratification and a potential therapeutic target in the management of CRC.
    Journal • BRCA Biomarker
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    BRCA1 (Breast cancer 1, early onset) • MSI (Microsatellite instability) • CEACAM5 (CEA Cell Adhesion Molecule 5) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1)
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    BRIP1 mutation
    7d
    The Genetic and Molecular Analyses of Rare Candidate Germline BRIP1/FANCJ Variants Implicated in Hereditary Breast and Ovarian Cancers. (PubMed, Int J Mol Sci)
    Of the five reported BRIP1 variants, p.Thr266Met, p.Pro696Leu and c.2990_2993delCAAA; p.Thr997ArgfsTer61, which were predicted to be damaging, conferred cellular sensitivity to mitomycin C and cisplatin unlike p.Ser139Ala and p.Ala406Ser. Collectively, our investigation implicates BRIP1 c.797C>T; p.Thr266Met, c.2087C>T; p.Pro696Leu and c.2990_2993delCAAA; p.Thr997ArgfsTer61 as deleterious variants in OC and BC.
    Journal
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    BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1)
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    cisplatin • mitomycin
    11d
    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)
    11d
    NePtune: Study of Neoadjuvant PARP Inhibition Followed by Radical Prostatectomy in Patients With Unfavorable Intermediate-Risk or High-Risk Prostate Cancer With Select HRR Gene Alterations (clinicaltrials.gov)
    P2, N=32, Recruiting, Rana McKay, MD | Trial primary completion date: Dec 2025 --> Mar 2026
    Trial primary completion date
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • CDK12 (Cyclin dependent kinase 12) • CHEK2 (Checkpoint kinase 2) • 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) • RAD54L2 (RAD54 Like 2)
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    Lynparza (olaparib) • triptorelin • goserelin acetate • leuprolide acetate for depot suspension
    12d
    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
    14d
    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)
    15d
    A novel oncogenic nonsense mutation of SMARCA4 and genetic characteristic analysis of SMARCA4 (BRG1)-deficient undifferentiated tumor of the bladder. (PubMed, Virchows Arch)
    This suggests that besides SMARCA4 deficiency, alterations in other genes may cooperatively contribute to the tumorigenesis of bladder undifferentiated tumors. These findings provide a reference for subsequent exploration of precise diagnostic and prognostic assessment and treatment strategies for this disease.
    Journal • IO biomarker
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    TP53 (Tumor protein P53) • CCND1 (Cyclin D1) • FGF19 (Fibroblast growth factor 19) • KMT2D (Lysine Methyltransferase 2D) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • KMT2C (Lysine Methyltransferase 2C) • FGF3 (Fibroblast growth factor 3) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • FGF4 (Fibroblast growth factor 4) • GLI1 (GLI Family Zinc Finger 1) • STAG2 (Stromal Antigen 2) • FLT4 (Fms-related tyrosine kinase 4) • RICTOR (RPTOR Independent Companion Of MTOR Complex 2) • EPHA3 (EPH receptor A3)
    22d
    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)
    22d
    NCI-2017-02296: Testing Olaparib in Patients With Advanced or Metastatic (Cancer That Has Spread) Bladder Cancer and Other Genitourinary Tumors With DNA-Repair Genetic Changes (clinicaltrials.gov)
    P2, N=60, Recruiting, National Cancer Institute (NCI) | Trial completion date: Dec 2025 --> Dec 2026 | Trial primary completion date: Dec 2025 --> Dec 2026
    Trial completion date • Trial primary completion date • Tumor mutational burden
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    TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • ABL1 (ABL proto-oncogene 1) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • STK11 (Serine/threonine kinase 11) • NPM1 (Nucleophosmin 1) • POLE (DNA Polymerase Epsilon) • CCND1 (Cyclin D1) • BAP1 (BRCA1 Associated Protein 1) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • ATRX (ATRX Chromatin Remodeler) • CHEK2 (Checkpoint kinase 2) • SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1) • RAD51 (RAD51 Homolog A) • FANCA (FA Complementation Group A) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • POLD1 (DNA Polymerase Delta 1) • CHEK1 (Checkpoint kinase 1) • BARD1 (BRCA1 Associated RING Domain 1) • FANCL (FA Complementation Group L) • BRD4 (Bromodomain Containing 4) • DOT1L (DOT1 Like Histone Lysine Methyltransferase) • FANCE (FA Complementation Group E) • FANCG (FA Complementation Group G) • IKBKE (Inhibitor Of Nuclear Factor Kappa B Kinase Subunit Epsilon) • FANCC (FA Complementation Group C)
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    PALB2 mutation • BRIP1 mutation
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    FoundationOne® CDx • FoundationOne® Liquid CDx
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    Lynparza (olaparib)
    23d
    Leveraging tumor multigene panel testing to identify germline variants in gynecologic cancers: A retrospective evaluation of an algorithm-based approach. (PubMed, Gynecol Oncol)
    A conservative (specificity-focused) tumor-guided algorithm demonstrated high positive predictive value for identifying germline pathogenic variants and may provide a cost-effective means of prioritizing genetic counselling and germline testing in resource-limited settings.
    Retrospective data • Journal • BRCA Biomarker
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PALB2 (Partner and localizer of BRCA2) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • 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)
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    RAD51D mutation
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    TruSight Oncology 500 Assay
    24d
    BACH1 promotes lactate metabolism by transcriptionally upregulating LDHA and MCT4 expression to inhibit ferroptosis in intrahepatic cholangiocarcinoma cells. (PubMed, Cell Signal)
    Additional investigations confirm that BACH1 specifically mitigates cisplatin-triggered tumor cell death by regulating the "BACH1-LDHA/McT4-lactate metabolism-ferroptosis inhibition" axis, leading to cisplatin resistance in ICC cells. Our findings revealed that through this regulatory axis, BACH1 induces cisplatin resistance and may serve as a therapeutic target in ICC.
    Journal
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    LDHA (Lactate dehydrogenase A) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • BACH1 (BTB Domain And CNC Homolog 1)
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    cisplatin