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    GENE:

    ATM (ATM serine/threonine kinase)

    i
    Other names: ATM, ATA, ATC, ATD, ATDC, TEL1, TELO1, ATM serine/threonine kinase
    5d
    Comprehensive genomic analysis of non-BRCA familial breast cancer in an Arab population. (PubMed, NPJ Breast Cancer)
    PRS assessment identified four PRSs with good discriminatory power (AUC > 0.690), with PGS003738 showing the highest performance (AUC = 0.702, top decile OR = 3.57). These findings highlight the need for population-specific genetic studies to improve breast cancer risk stratification in Arab populations.
    Journal • BRCA Biomarker
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    TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • PALB2 (Partner and localizer of BRCA2) • BRCA (Breast cancer early onset) • CHEK1 (Checkpoint kinase 1) • BARD1 (BRCA1 Associated RING Domain 1)
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    BRCA2 mutation • BRCA1 mutation
    5d
    High diffuse bone marrow uptake in 18F-FDG PET/CT may reflect the diverse mutational characteristics of multiple myeloma. (PubMed, Korean J Intern Med)
    Patients with high DU showed diverse mutational characteristics, which may reflect the heterogeneous nature of MM and contribute to inferior survival outcomes.
    Retrospective data • Journal
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    TP53 (Tumor protein P53) • ATM (ATM serine/threonine kinase) • HUWE1 (HECT UBA And WWE Domain Containing E3 Ubiquitin Protein Ligase 1) • PABPC1 (Poly(A) Binding Protein Cytoplasmic 1)
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    TP53 mutation • ATM mutation
    6d
    Distinct Association of MRE11 and ATM Co-Expression With Clinical Outcomes in Laryngeal Cancer. (PubMed, Oncology)
    High immunohistochemical expression of MRE11 and ATM proteins was associated with earlier clinical stages and better treatment outcomes in laryngeal carcinoma, particularly when both proteins were elevated. The results point to the potential of MRE11 and ATM as predictors of treatment response, but more extensive molecular and clinical research would be needed to gain a more detailed insight.
    Clinical data • Journal
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    ATM (ATM serine/threonine kinase) • MRE11A (MRE11 homolog, double strand break repair nuclease)
    6d
    STELLA: A Study of ART0380 for the Treatment of Advanced or Metastatic Solid Tumors (clinicaltrials.gov)
    P1/2, N=442, Recruiting, Artios Pharma Ltd | Trial completion date: Dec 2026 --> Dec 2027
    Trial completion date
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    ATM (ATM serine/threonine kinase) • HRD (Homologous Recombination Deficiency) • BRCA (Breast cancer early onset)
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    HRD • BRCA mutation
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    gemcitabine • irinotecan • alnodesertib (ART0380)
    8d
    Case Report: Ataxia telangiectasia with severe hemorrhagic cystitis. (PubMed, Front Pediatr)
    AT patients may be at risk for delayed, potentially life-threatening hemorrhagic cystitis, particularly following cyclophosphamide exposure. Cystoscopy is essential for diagnosis and enables timely endoscopic management.
    Journal
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    ATM (ATM serine/threonine kinase)
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    cyclophosphamide
    13d
    Metastatic Pancreatic Adenocarcinoma with Germline BLM and Somatic ATM Mutations: A Case Report and Review of DNA Damage Response. (PubMed, Ann Case Rep)
    The patient was treated with an oxaliplatin-based regimen (mFOLFOX6), modified due to comorbidities, achieving disease stabilization...The presence of pathogenic variants in DNA damage response (DDR) genes (BLM and ATM) suggests a defect in homologous recombination, providing a rationale for platinum-based therapy. We discuss the implications of BLM mutations on therapeutic selection, potential immune checkpoint interactions, and the role of synthetic lethality in management.
    Journal • BRCA Biomarker
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • BLM (BLM RecQ Like Helicase)
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    BRCA2 mutation • BRCA1 mutation • ATM mutation
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    5-fluorouracil • oxaliplatin • leucovorin calcium
    16d
    Prognostic Significance of DNA Repair Gene mRNA Expression in Early-Stage Breast Cancer: Insights into Clinical Relevance. (PubMed, Oncol Res)
    Finally, high levels of WRN mRNA expression correlated with significantly longer MFS compared to low mRNA expression levels (p = 0.009, Log Rank). This study underscores the prognostic significance of moderate penetrance breast cancer risk variant genes, such as ATM, BLM, and WRN, for survival outcomes in eBC.
    Journal • BRCA Biomarker
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    ATM (ATM serine/threonine kinase) • BRCA (Breast cancer early onset) • WRN (WRN RecQ Like Helicase) • RECQL (RecQ Like Helicase)
    16d
    Adult-type epithelial neoplasms in children and adolescents-A retrospective analysis on a subgroup of very rare tumors. (PubMed, Indian J Cancer)
    Adult-type epithelial neoplasms in children and adolescents are distinct entities, characterized by unique biological behaviors and genetic signatures. Treatment approaches should integrate principles from adult oncology and collaborative studies are essential to define the epidemiology, for staging and prognostic markers, and also to develop pediatric-specific treatment protocols for these malignancies.
    Retrospective data • Journal
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    TP53 (Tumor protein P53) • ATM (ATM serine/threonine kinase)
    16d
    Integrating breast tumour homologous recombination deficiency status to aid germline BRCA1 and BRCA2 variant classification. (PubMed, EBioMedicine)
    Analysis across multiple tumour whole-genome sequencing datasets has shown that HR status prediction algorithms can separate profiles for BRCA1 and BRCA2 pathogenic variants and provide further evidence at increased weight to aid in the classification of germline BRCA1 and BRCA2 variants. Tumour sequencing offers a promising strategy for reducing the uncertainty in germline variant interpretation.
    Journal • BRCA Biomarker
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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) • ATM (ATM serine/threonine kinase) • HRD (Homologous Recombination Deficiency) • PALB2 (Partner and localizer of BRCA2) • 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)
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    HRD
    17d
    DNA Repair gene alterations and efficacy from gemcitabine and nab-paclitaxel with/without durvalumab and tremelimumab in metastatic pancreatic ductal adenocarcinoma. (PubMed, Nat Commun)
    Partial response was observed in 7/11 (63.64%) patients with concurrent DNA damage repair gene mutations in the immunotherapy arm. As a prospective study in PDAC identifying a potential biomarker beyond mismatch repair deficiency for benefit from immunotherapy, these data highlight an actionable subgroup of mPDAC.
    Journal • BRCA Biomarker • PD(L)-1 Biomarker • IO biomarker
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    BRCA1 (Breast cancer 1, early onset) • ATM (ATM serine/threonine kinase) • FANCA (FA Complementation Group A)
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    BRCA1 mutation • ATM mutation
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    Imfinzi (durvalumab) • gemcitabine • albumin-bound paclitaxel • Imjudo (tremelimumab-actl)
    20d
    BabyTears: Low Dose Exemestane vs Low Dose Tamoxifen in Post-menopausal Women at High Risk for Breast Cancer. (clinicaltrials.gov)
    P2, N=95, Recruiting, Andrea DeCensi | N=70 --> 95
    Enrollment change
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    ER (Estrogen receptor) • ATM (ATM serine/threonine kinase) • CHEK2 (Checkpoint kinase 2) • IGFBP3 (Insulin-like growth factor binding protein 3)
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    tamoxifen • exemestane
    21d
    Clinical and Molecular Characterization of Clear Cell Adenocarcinoma of the Urinary Tract: A Multi-Institutional Study. (PubMed, Am J Surg Pathol)
    However, there was no statistical significance in the progression-free survival between cases with epithelial and mesenchymal phenotypes. CCA-UT are aggressive tumors with a heterogeneous molecular profile, underscoring the role of molecular analysis in identifying potential therapeutic options for the treatment of this pernicious tumor.
    Clinical • Journal • Tumor mutational burden • BRCA Biomarker
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    HER-2 (Human epidermal growth factor receptor 2) • TMB (Tumor Mutational Burden) • ATM (ATM serine/threonine kinase) • ARID1A (AT-rich interaction domain 1A) • NF1 (Neurofibromin 1) • KMT2C (Lysine Methyltransferase 2C) • ATRX (ATRX Chromatin Remodeler) • BRCA (Breast cancer early onset) • ARID1B (AT-Rich Interaction Domain 1B)
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    ATM mutation • ARID1A mutation • BRCA mutation