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    GENE:

    ATM (ATM serine/threonine kinase)

    i
    Other names: ATM, ATA, ATC, ATD, ATDC, TEL1, TELO1, ATM serine/threonine kinase
    1d
    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
    6d
    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
    9d
    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)
    9d
    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)
    9d
    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
    10d
    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)
    13d
    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
    14d
    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
    15d
    Targeting the FNIP2-SERCA2b axis improves metabolic and mitochondrial defects in Ataxia Telangiectasia. (PubMed, Cell Death Dis)
    This metabolic reprogramming prevents glycogen accumulation and improves survival in AT primary cells. Our findings provide novel insights into AT pathophysiology and indicate the FNIP2-SERCA2b axis as a novel potential target for mitigating the systemic effects of AT and improving outcomes in this complex disease.
    Journal
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    ATM (ATM serine/threonine kinase)
    22d
    Early-onset colorectal cancer in pediatric patient. (PubMed, Turk J Surg)
    Pediatric-onset colorectal cancer should be considered in the differential diagnosis of children presenting with persistent gastrointestinal symptoms, as delayed recognition may lead to advanced disease. Genetic counseling plays a crucial role in management, underscoring the need for surgeon awareness and multidisciplinary collaboration.
    Journal
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    KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • NRAS (Neuroblastoma RAS viral oncogene homolog) • ATM (ATM serine/threonine kinase)
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    KRAS mutation • BRAF mutation • NRAS mutation
    25d
    D5330C00004: Ascending Doses of Ceralasertib in Combination With Chemotherapy and/or Novel Anti Cancer Agents (clinicaltrials.gov)
    P1/2, N=357, Active, not recruiting, AstraZeneca | Trial completion date: Dec 2025 --> Jun 2026
    Trial completion date
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    HER-2 (Human epidermal growth factor receptor 2) • ATM (ATM serine/threonine kinase) • HRD (Homologous Recombination Deficiency) • BRCA (Breast cancer early onset) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D)
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    HER-2 negative • HRD • PALB2 mutation • RAD51C mutation • BRCA mutation
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    Lynparza (olaparib) • carboplatin • Imfinzi (durvalumab) • ceralasertib (AZD6738) • saruparib (AZD5305)
    27d
    SPORE: A Study of Pembrolizumab and Olaparib for People With Metastatic Pancreatic Ductal Adenocarcinoma and Homologous Recombination Deficiency or Exceptional Treatment Response to Platinum-Based Therapy (clinicaltrials.gov)
    P2, N=63, Active, not recruiting, Memorial Sloan Kettering Cancer Center | Trial completion date: Jan 2026 --> Jan 2027 | Trial primary completion date: Jan 2026 --> 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) • ATM (ATM serine/threonine kinase) • BAP1 (BRCA1 Associated Protein 1) • 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) • RAD50 (RAD50 Double Strand Break Repair Protein) • BARD1 (BRCA1 Associated RING Domain 1) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • ABRAXAS1 (Abraxas 1 BRCA1 A Complex Subunit 2) • FANCC (FA Complementation Group C)
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    MSK-IMPACT
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    Keytruda (pembrolizumab) • Lynparza (olaparib)