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    BIOMARKER:

    DDR

    1d
    Clinical, Radiological and Molecular Genetic Findings in Six New Cases with Rothmund-Thomson Syndrome: Evidence for a Founder RECQL4 Variant. (PubMed, Klin Padiatr)
    Our findings highlight the value of combining dermatological, radiological, and molecular assessments for accurate diagnosis and counseling. The recurrence of the same variant in unrelated families from one region suggests a founder effect.
    Journal
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    DRD (DNA Repair Deficiency) • RECQL4( RecQ Like Helicase 4)
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    DDR
    12d
    Radiation-induced sarcoma after glioma resection in patients with Li-Fraumeni syndrome: illustrative cases. (PubMed, J Neurosurg Case Lessons)
    These cases represent the first definitive report of cranial RIS following glioma chemoradiation therapy in patients with LFS. The short latency and aggressive nature of these tumors at the irradiated site highlight the need for proactive follow-up in patients with LFS after chemoradiation therapy to screen for RIS and improve outcomes through timely intervention. https://thejns.org/doi/10.3171/CASE25588.
    Journal
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    TP53 (Tumor protein P53) • DRD (DNA Repair Deficiency)
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    TP53 mutation • DDR
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    temozolomide
    13d
    Cockayne syndrome mutation in XPG activate the integrated stress response. (PubMed, Hum Genet)
    We identified RNA polymerase I transcription and rRNA maturation defects, a highly phosphorylated eukaryotic initiation factor 2 alpha (eIF2alpha), and a shift from cap- to internal ribosomal entry site (IRES) translation, indicating an activated integrated stress response in CS. Disturbances in ribosomal biogenesis and translational control might thus contribute to the development of CS.
    Journal
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    DRD (DNA Repair Deficiency)
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    DDR
    14d
    Fanconi Anemia Complementation Group C Gene (FANCC) Association with Hereditary and Sporadic Renal Tumors. (PubMed, Oncologist)
    Somatic and germline mutations in FANCC occur in an exceedingly small subset of clinically advanced RT but at similar rate to other cancers, and genomic landscape does not appear to be different from RT with wild-type FANCC. Germline testing is warranted, as we see high frequency of germline FANCC mutations.
    Journal • MSi-H Biomarker
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    MSI (Microsatellite instability) • DRD (DNA Repair Deficiency) • FANCC (FA Complementation Group C)
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    MSI-H/dMMR • DDR
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    FoundationOne® CDx
    22d
    A vicious cycle inducer in gastric pathogenesis: implication of Helicobacter pylori. (PubMed, Arch Microbiol)
    The infection further impairs host defenses by disrupting tumor suppressor pathways such as p53, dysregulating immune signaling of NF-κB and JAK/STAT, which results in immune evasion through arginine depletion and impaired antigen presentation. By elucidating the coordinated interplay among virulence factors, DNA damage response impairment, and immune modulation, this review highlights potential intervention nodes that may help disrupt persistent infection and ultimately reduce the risk of H. pylori-associated gastric cancer.
    Review • Journal
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • DRD (DNA Repair Deficiency)
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    DDR
    24d
    Evaluating carboplatin and PARP inhibitor combination efficacy using high-grade serous carcinoma spheroids and organoids. (PubMed, Cancer Biol Ther)
    Currently, olaparib is approved as maintenance therapy for BRCA1/2-mutated HGSC, and niraparib is approved for platinum-sensitive recurrent disease. Overall, first-line carboplatin treatment remains ideal, yet there may be select utility for PARPi prior to chemotherapy. Using patient-derived tumor models such as spheroids and organoids may provide insights for on-going and future clinical trials to enhance therapeutic outcomes for HGSC patients.
    Journal • BRCA Biomarker • PARP Biomarker
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • RAD51 (RAD51 Homolog A) • DRD (DNA Repair Deficiency)
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    DDR
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    Lynparza (olaparib) • carboplatin • Zejula (niraparib)
    1m
    Phenotypic POLE variant classification identifies patients who may have favorable prognosis and benefit from immunotherapy. (PubMed, J Mol Diagn)
    pPOLE have been incorporated into treatment guidelines for several malignancies and are an important predictor of immunotherapy response. This study provides biological insight to guide classification and clinical management of patients with tumors harboring pPOLE.
    Journal • Tumor mutational burden • MSi-H Biomarker • IO biomarker
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    TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • POLE (DNA Polymerase Epsilon) • DRD (DNA Repair Deficiency)
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    MSI-H/dMMR • DDR • POLE mutation
    1m
    Combine mitochondrial-targeted gene therapy and chemotherapy to treat triple-negative breast cancer. (PubMed, J Exp Clin Cancer Res)
    Post-treatment analyses confirmed mitochondrial depolarization, downregulation of DNA replication, cytokine upregulation, and immune cell infiltration in tumor. These findings highlight the potential of mitochondria-targeted gene therapy combined with chemotherapy as a powerful and innovative strategy for TNBC treatment.
    Journal • PARP Biomarker
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    CD276 (CD276 Molecule) • DRD (DNA Repair Deficiency)
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    DDR
    1m
    Karyotypic Profiling of Induced Pluripotent Stem Cells Derived from a Xeroderma Pigmentosum Group C Patient. (PubMed, Cells)
    This temporal divergence in genomic integrity highlights how culture pressures drive chromosomal evolution in XP-C iPSCs independently of initial reprogramming. Our findings emphasize that XP-C iPSCs require continuous genomic surveillance and provide a model for investigating how DNA repair deficiencies interact with in vitro culture stress.
    Journal
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    XPC (XPC Complex Subunit, DNA Damage Recognition And Repair Factor) • DRD (DNA Repair Deficiency)
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    DDR
    2ms
    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)
    2ms
    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)
    2ms
    Targeting WEE1 in ARID1A/TP53 Concurrent Mutant Colorectal Cancer by Exploiting RLoop Accumulation and DNA Repair Deficiencies. (PubMed, Adv Sci (Weinh))
    Moreover, though CRISPR knockout screening, it is found that concurrent AKT blockade significantly augmented the antitumor effects of the WEE1 inhibitor. In conclusion, WEE1 inhibition offers a promising therapeutic strategy for ARID1A/TP53 concurrent mutant CRC.
    Journal
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    TP53 (Tumor protein P53) • ARID1A (AT-rich interaction domain 1A) • DRD (DNA Repair Deficiency) • ATF3 (Activating Transcription Factor 3)
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    TP53 mutation • ARID1A mutation • DDR