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    GENE:

    DDX41 (DEAD-Box Helicase 41)

    i
    Other names: DDX41, DEAD-Box Helicase 41, ABS, DEAD (Asp-Glu-Ala-Asp) Box Polypeptide 41, Probable ATP-Dependent RNA Helicase DDX41, DEAD Box Protein Abstrakt Homolog, DEAD Box Protein 41, Abstrakt, MGC8828, DEAD-Box Protein Abstrakt, Putative RNA Helicase, MPLPF
    10d
    PIM1 Inhibition Alleviates Aspergillus fumigatus Keratitis by Regulating DDX41-Mediated STING Signaling Pathway. (PubMed, Invest Ophthalmol Vis Sci)
    Our findings reveal a novel mechanism by which PIM1 aggravates A. fumigatus keratitis through activation of the DDX41-STING signaling axis, highlighting PIM1 as a promising therapeutic target for FK.
    Journal
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    IL6 (Interleukin 6) • TNFA (Tumor Necrosis Factor-Alpha) • DDX41 (DEAD-Box Helicase 41) • PIM1 (Pim-1 Proto-Oncogene) • IL1B (Interleukin 1, beta) • IFNB1 (Interferon Beta 1)
    11d
    LEAH: Cohort Evaluation of Body Fluids Early Detection of Cancer in High-risk Individuals (clinicaltrials.gov)
    P=N/A, N=5909, Recruiting, Gustave Roussy, Cancer Campus, Grand Paris | Not yet recruiting --> Recruiting
    Enrollment open
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    TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • STK11 (Serine/threonine kinase 11) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • POLE (DNA Polymerase Epsilon) • RUNX1 (RUNX Family Transcription Factor 1) • BAP1 (BRCA1 Associated Protein 1) • ETV6 (ETS Variant Transcription Factor 6) • MLH1 (MutL homolog 1) • CDK4 (Cyclin-dependent kinase 4) • MSH2 (MutS Homolog 2) • SMAD4 (SMAD family member 4) • CDH1 (Cadherin 1) • SDHB (Succinate Dehydrogenase Complex Iron Sulfur Subunit B) • POLD1 (DNA Polymerase Delta 1) • RAD51C (RAD51 paralog C) • CEBPA (CCAAT Enhancer Binding Protein Alpha) • RAD51D (RAD51 paralog D) • DDX41 (DEAD-Box Helicase 41) • GATA2 (GATA Binding Protein 2) • DICER1 (Dicer 1 Ribonuclease III) • FLCN (Folliculin) • PRSS1 (Serine Protease 1) • SDHD (Succinate Dehydrogenase Complex Subunit D) • TXNIP (Thioredoxin Interacting Protein) • ANKRD26 (Ankyrin Repeat Domain Containing 26) • BMPR1A (Bone Morphogenetic Protein Receptor Type 1A) • HOXB13 (Homeobox B13)
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    TP53 mutation • PTEN deletion
    17d
    Leveraging paired germline and somatic analysis to improve the classification of DDX41 variants. (PubMed, Br J Haematol)
    Current ACMG and CanVIG-UK guidelines do not permit co-occurrence with recurrent somatic driver variants as evidence favouring pathogenicity, despite this being a convincing finding. This study proposes modifying certain rules as a basis for developing DDX41-specific guidance, as it will significantly impact decisions surrounding bone marrow transplantation.
    Journal
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    DDX41 (DEAD-Box Helicase 41)
    25d
    GFH009X2101: Study of SLS009 (Formerly GFH009) a Potent Highly Selective CDK9 Inhibitor in Patients With Hematologic Malignancies and High-Risk Newly Diagnosed AML (clinicaltrials.gov)
    P1/2, N=160, Recruiting, Sellas Life Sciences Group | Trial completion date: Dec 2025 --> Dec 2027 | Trial primary completion date: Dec 2025 --> Dec 2026
    Trial completion date • Trial primary completion date
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    PD-L1 (Programmed death ligand 1) • KRAS (KRAS proto-oncogene GTPase) • FLT3 (Fms-related tyrosine kinase 3) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • NPM1 (Nucleophosmin 1) • SF3B1 (Splicing Factor 3b Subunit 1) • ASXL1 (ASXL Transcriptional Regulator 1) • SRSF2 (Serine and arginine rich splicing factor 2) • BCOR (BCL6 Corepressor) • U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1) • STAG2 (Stromal Antigen 2) • DDX41 (DEAD-Box Helicase 41) • ZRSR2 (Zinc Finger CCCH-Type, RNA Binding Motif And Serine/Arginine Rich 2)
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    TP53 mutation • KRAS mutation • FLT3-ITD mutation • Chr del(17p) • IDH1 mutation • IDH2 mutation • FLT3 mutation • TP53 wild-type • NPM1 mutation • KRAS wild-type • Chr del(11q) • ASXL1 mutation • SF3B1 mutation • EZH2 mutation • NRAS wild-type • SRSF2 mutation • IDH wild-type
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    Venclexta (venetoclax) • azacitidine • tambiciclib (SLS009)
    30d
    MDS/AML-associated DDX41 helicase facilitates homologous recombination repair by potentially resolving R-loops. (PubMed, Nucleic Acids Res)
    Using DDX41 knockout (KO) cells, we found that these cells were sensitive to bleomycin, camptothecin, and UV...Moreover, increased and prolonged RPA and reduced RAD51 foci were found in DDX41 KO and DDX41-R525H expressing cells, indicating a defect in the transition from end resection to RAD51 filament assembly. Overall, our results suggest that DDX41 utilizes its unwinding activity to resolve R-loops, which may play a key role in HR-based repair, and dysregulation of this pathway may lead to MDS/AML.
    Journal
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    HRD (Homologous Recombination Deficiency) • RAD51 (RAD51 Homolog A) • DDX41 (DEAD-Box Helicase 41)
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    bleomycin
    1m
    Somatic and germline genetic testing pathways in haematological malignancies: Best practice consensus guidelines from the 2025 national meeting organised by UK Cancer Genetics Group (UKCGG), CanGene-CanVar and the NHS England Haematological Oncology Working Group. (PubMed, Br J Haematol)
    The meeting specifically focussed on TP53, DDX41, myeloproliferative neoplasm driver genes, non-single nucleotide variation and identification of gene carriers for addition to the National Inherited Cancer Predisposition Register (NICPR) through the National Disease Registration Service (NDRS). Using the format of a pre-workshop survey followed by structured discussion and in-meeting polling, high-level consensus was achieved for UK best practice across these areas.
    Journal
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    TP53 (Tumor protein P53) • DDX41 (DEAD-Box Helicase 41)
    2ms
    Refinement of the classification of DDX41 variants through analysis of aggregated clinical datasets. (PubMed, Leukemia)
    These results were integrated into an online tool to facilitate the consistent application of criteria. Overall, this comprehensive analysis of DDX41-ASC provides an evidence framework to inform the development of DDX41-specific curation guidelines.
    Journal
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    DDX41 (DEAD-Box Helicase 41)
    2ms
    DDX41 facilitates PD-L1-mediated immune escape in OSCC via the phase separation and activation STING pathway. (PubMed, NPJ Precis Oncol)
    Finally, clinical sample analysis revealed that DDX41 expression is associated with poor prognosis in OSCC patients and correlates with downstream proteins. Our results identify a novel mechanism by which DDX41, functioning as a cytosolic DNA sensor, promotes PD-L1-mediated tumor immune escape in OSCC via sustaining the STING-TBK1-NF-κB signaling pathway, providing both a potential therapeutic target and diagnostic indicator for this malignancy.
    Journal • PD(L)-1 Biomarker • IO biomarker
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    PD-L1 (Programmed death ligand 1) • STING (stimulator of interferon response cGAMP interactor 1) • DDX41 (DEAD-Box Helicase 41)
    2ms
    LEAH: Cohort Evaluation of Body Fluids Early Detection of Cancer in High-risk Individuals (clinicaltrials.gov)
    P=N/A, N=5909, Not yet recruiting, Gustave Roussy, Cancer Campus, Grand Paris | Initiation date: Jun 2025 --> Feb 2026
    Trial initiation date
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    TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • STK11 (Serine/threonine kinase 11) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • POLE (DNA Polymerase Epsilon) • RUNX1 (RUNX Family Transcription Factor 1) • BAP1 (BRCA1 Associated Protein 1) • ETV6 (ETS Variant Transcription Factor 6) • MLH1 (MutL homolog 1) • CDK4 (Cyclin-dependent kinase 4) • MSH2 (MutS Homolog 2) • SMAD4 (SMAD family member 4) • CDH1 (Cadherin 1) • SDHB (Succinate Dehydrogenase Complex Iron Sulfur Subunit B) • POLD1 (DNA Polymerase Delta 1) • RAD51C (RAD51 paralog C) • CEBPA (CCAAT Enhancer Binding Protein Alpha) • RAD51D (RAD51 paralog D) • DDX41 (DEAD-Box Helicase 41) • GATA2 (GATA Binding Protein 2) • DICER1 (Dicer 1 Ribonuclease III) • FLCN (Folliculin) • PRSS1 (Serine Protease 1) • SDHD (Succinate Dehydrogenase Complex Subunit D) • TXNIP (Thioredoxin Interacting Protein) • ANKRD26 (Ankyrin Repeat Domain Containing 26) • BMPR1A (Bone Morphogenetic Protein Receptor Type 1A) • HOXB13 (Homeobox B13)
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    TP53 mutation • PTEN deletion
    2ms
    Biallelic germline variants in the hematologic malignancy predisposition gene DDX41 cause retinal dystrophy through dysregulation of retinal homeostasis. (PubMed, medRxiv)
    The dysregulated pathways chiefly involved cell morphogenesis and junction formation, consistent with immunohistological analyses of widespread architectural disruption and nuclear disorganization, identifying MCs as a site of dysfunction. Together, these findings establish for the first time the involvement of DDX41 in LCA/EOSRD and provide new insights into the role of helicases in retinal homeostasis.
    Journal
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    DDX41 (DEAD-Box Helicase 41)
    2ms
    CPX-351 Selectively Benefits Patients with AML and Myelodysplasia-Related Mutations in the Pivotal Randomized Trial. (PubMed, Blood Adv)
    The OS benefit of CPX-351 observed in the trial was driven by AML-MR with no benefit of CPX-351 in TP53-AML, where the primary prognostic factor was allelic state. Clinical Trial Information: NCT01696084.
    Journal
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    TP53 (Tumor protein P53) • DDX41 (DEAD-Box Helicase 41)
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    TP53 mutation
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    Vyxeos (cytarabine/daunorubicin liposomal formulation)