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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
    2d
    Skin cancer risk in hereditary mixed cancer syndromes. (PubMed, Hered Cancer Clin Pract)
    This review consolidates existing evidence and suggests that mixed cancer syndromes, especially LFS, LS, and HBOC but also pathogenic ATM and CHEK2 variants may predispose individuals to skin cancers, warranting tailored screening and preventive measures. On the basis of emerging evidence, we recommend dermatologic evaluation and individualized UV protection strategies for patients with reviewed hereditary cancer syndromes to reduce skin cancer risk and enhance early detection.
    Review • Journal
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    CHEK2 (Checkpoint kinase 2) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1)
    3d
    NIRADO: Basket Trial Exploring the Efficacy and Safety of the Combination of Niraparib and Dostarlimab (clinicaltrials.gov)
    P2, N=51, Terminated, Gustave Roussy, Cancer Campus, Grand Paris | Trial completion date: Dec 2027 --> Feb 2025 | Suspended --> Terminated; Abandon of the partner, GSK
    Trial completion date • Trial termination • Pan tumor • Platinum sensitive
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    HER-2 (Human epidermal growth factor receptor 2) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • ARID1A (AT-rich interaction domain 1A) • PBRM1 (Polybromo 1) • CDK12 (Cyclin dependent kinase 12) • 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) • RAD51D (RAD51 paralog D) • ARID2 (AT-Rich Interaction Domain 2) • BARD1 (BRCA1 Associated RING Domain 1) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • RAD54L (DNA Repair And Recombination Protein RAD54) • DRD (DNA Repair Deficiency)
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    HER-2 positive • HER-2 amplification • DDR • CDK12 mutation • CHEK2 mutation • BRIP1 mutation • RAD51C mutation • RAD51D mutation • BARD1 mutation
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    Zejula (niraparib) • Jemperli (dostarlimab-gxly)
    4d
    ARIANES: Efficacy and Safety of the Combination of Rucaparib (PARP Inhibitor) and Atezolizumab (Anti-PD-L1 Antibody) in Patients With DNA Repair-deficient or Platinum-sensitive Solid Tumors (clinicaltrials.gov)
    P2, N=130, Terminated, Gustave Roussy, Cancer Campus, Grand Paris | Suspended --> Terminated; Bankruptcy of partner: Clovis
    Trial termination • Pan tumor • Platinum sensitive
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • CDK12 (Cyclin dependent kinase 12) • 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) • IL2 (Interleukin 2) • RAD51D (RAD51 paralog D) • BARD1 (BRCA1 Associated RING Domain 1) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • RAD54L (DNA Repair And Recombination Protein RAD54) • DRD (DNA Repair Deficiency)
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    DDR • CDK12 mutation • CHEK2 mutation • BRIP1 mutation • RAD51C mutation • RAD51D mutation • BARD1 mutation
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    Tecentriq (atezolizumab) • Rubraca (rucaparib)
    4d
    Pediatric Oncology Patients With Germline Pathogenic Variants in Adult-Onset Cancer Predisposition Genes. (PubMed, JCO Precis Oncol)
    These findings contribute to the literature suggesting that, rarely, GPV in aoCPG may contribute to cancer diagnoses in children, raising the question of how tumors in these cases may present differently in children than adults. Increased knowledge about potential childhood cancer risks related to what have historically been considered aoCPG could modify predictive genetic testing recommendations for children and enhance existing cancer screening protocols.
    Journal • Tumor mutational burden
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    TMB (Tumor Mutational Burden) • CHEK2 (Checkpoint kinase 2) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1)
    6d
    Crucial Contribution of BACH1 to Bladder Cancer Progression via Upregulating Epithelial-Mesenchymal Transition Pathway. (PubMed, Cancer Sci)
    Furthermore, in vivo mouse allograft experiments showed that Bach1 knockout cells exhibited reduced tumor growth and fewer lung metastases, accompanied by altered expression of EMT markers and modulation of cytokine-driven immune signaling. Collectively, these findings suggest that BACH1 plays a crucial role in BC progression and metastasis, at least in part, through two complementary mechanisms, EMT activation and immune microenvironment modulation via cytokine signaling.
    Journal
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    BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • BACH1 (BTB Domain And CNC Homolog 1)
    7d
    Transvaginal Ultrasound and Photoacoustic Imaging of Ovary (clinicaltrials.gov)
    P=N/A, N=310, Recruiting, Washington University School of Medicine | Trial completion date: Jan 2028 --> Jan 2027 | Trial primary completion date: Jan 2028 --> 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) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • EPCAM (Epithelial cell adhesion molecule) • BARD1 (BRCA1 Associated RING Domain 1)
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    BARD1 mutation
    7d
    Synergistic inhibition of CHK1 and MUS81 to combat replication stress resistance in high-risk neuroblastoma. (PubMed, Sci Rep)
    In the absence of specific FANCJ-targeting compounds, we evaluated the phenotypic and molecular effects of pharmacological inhibition of the MUS81 endonuclease, which functions downstream of FANCJ in restarting stalled replication forks. When combined with CHK1 inhibition, we observed synergistic effects on neuroblastoma cell growth and survival, supporting further development of on-target MUS81 inhibitors for in vivo preclinical testing and future clinical trials aimed at overcoming replication stress resistance in high-risk neuroblastoma.
    Journal • Tumor mutational burden
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    TMB (Tumor Mutational Burden) • MYCN (MYCN Proto-Oncogene BHLH Transcription Factor) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • CHEK1 (Checkpoint kinase 1) • MUS81 (MUS81 Structure-Specific Endonuclease Subunit)
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    TMB-L
    8d
    Novel Therapeutic Strategy for Renal Cell Carcinoma: Niclosamide Enhances Sunitinib Efficacy via DNA Repair and Cell Cycle Pathways. (PubMed, Int J Mol Sci)
    Tyrosine kinase inhibitors (TKIs), such as sunitinib and sorafenib, are standard treatments for renal cell carcinoma (RCC). RNA sequencing (RNA-seq) and bioinformatic analyses showed that niclosamide modulated critical pathways, including BRIP1- and FANCA-mediated DNA repair and E2F2-regulated cell cycle progression. These findings provide proof-of-concept that niclosamide enhances TKI efficacy through modulation of DNA repair and cell cycle pathways, supporting the rationale for DNA damage response (DDR)-targeted combination strategies in RCC.
    Journal
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    FANCA (FA Complementation Group A) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • E2F2 (E2F Transcription Factor 2)
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    sorafenib • sunitinib • niclosamide
    11d
    The cell cycle regulator PLK1 promotes murine melanoma progression by regulating the transcription factor BACH1. (PubMed, PLoS Biol)
    Moreover, the PLK1/BACH1 axis confers resistance to Vemurafenib, a BRAFV600E inhibitor, in melanoma. In light of this finding, we attempted an innovative pharmacological combination targeting both BRAFV600E and PLK1, identifying a synergistic efficiency to this approach to suppress tumor growth. Overall, we have discovered a novel function of PLK1 that is independent of the cell cycle, which could pave new ways for melanoma therapies.
    Preclinical • Journal
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    PTEN (Phosphatase and tensin homolog) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • PLK1 (Polo Like Kinase 1) • BACH1 (BTB Domain And CNC Homolog 1)
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    BRAF V600E
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    Zelboraf (vemurafenib)
    23d
    An Intervention to Increase Genetic Testing in Families Who May Share a Gene Mutation Related to Cancer Risk and An Intervention to Help Patients and Their Primary Care Providers Stay Up-to-date About Uncertain Genetic Test Results (clinicaltrials.gov)
    P=N/A, N=1000, Recruiting, Memorial Sloan Kettering Cancer Center | N=2060 --> 1000
    Enrollment change
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • POLE (DNA Polymerase Epsilon) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • SMAD4 (SMAD family member 4) • CHEK2 (Checkpoint kinase 2) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • POLD1 (DNA Polymerase Delta 1) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • EPCAM (Epithelial cell adhesion molecule) • BARD1 (BRCA1 Associated RING Domain 1) • BMPR1A (Bone Morphogenetic Protein Receptor Type 1A)
    1m
    BACH1 promotes hepatocellular carcinoma progression by targeting PDP1 towards the PI3K-AKT-mTOR signaling activation. (PubMed, Bioorg Chem)
    Downregulation of either BACH1 or PDP1 suppressed the PI3K-AKT-mTOR signaling pathway, and a PI3K activator effectively reversed the inhibition of HCC cell proliferation induced by BACH1 or PDP1 downregulation. Collectively, our present study reveals a novel regulatory axis of BACH1-PDP1-PI3K-AKT-mTOR, thereby providing potential intervention targets and a theoretical basis for the molecular precision therapy of HCC.
    Journal
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    BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • BACH1 (BTB Domain And CNC Homolog 1) • PDP1 (Pyruvate Dehydrogenase Phosphatase Catalytic Subunit 1)
    1m
    Salpingectomy in individuals at high risk for tubo-ovarian cancer - consensus and precaution. (PubMed, Am J Obstet Gynecol)
    In this clinical opinion we describe that while RRS+DO has been associated with improved menopause-related quality of life and reduced cancer worry, its efficacy in cancer risk reduction has not been established. We explain the importance of offering RRS+DO within clinical trials whenever possible.
    Journal
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PALB2 (Partner and localizer of BRCA2) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D)