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    BIOMARKER:

    ATM deletion

    i
    Other names: ATM, ATA, ATC, ATD, ATDC, TEL1, TELO1, ATM serine/threonine kinase
    Entrez ID:
    472
    Related biomarkers:
    Expression
    Mutation
    Others
    1year
    An Atypical Presentation of Dyskeratosis Congenita in a Child With a Familial RTEL1 Mutation. (PubMed, Pediatr Dermatol)
    Malignant progression of oral leukoplakia to squamous cell carcinoma (SCC) is rare in DC, especially in younger patients, and cutaneous SCC is only reported in 1.5% of cases of DC. Here we report a case of a 12-year-old female with a familial heterozygous RTEL1 (regulator of telomere elongation helicase 1) gene mutation associated with a severe phenotype of DC characterized by multiple cutaneous SCCs.
    Journal
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    DKC1 (Dyskerin Pseudouridine Synthase 1)
    |
    ATM deletion
    almost2years
    Germline variants of DNA repair and immune genes in lymphoma from lymphoma-cancer families. (PubMed, Int J Cancer)
    In DLBCLs with germline PTVs of ATM, deletion and insertion in CD58 were further revealed. Thus, in lymphoma-cancer families, we identified germline defects of both DNA repair and immune genes in lymphoma patients.
    Journal
    |
    ATM (ATM serine/threonine kinase) • HRD (Homologous Recombination Deficiency) • BCL6 (B-cell CLL/lymphoma 6) • CD58 (CD58 Molecule)
    |
    HRD • ATM deletion
    almost2years
    Evaluation of a real-world clinico-genomics database of patients with upper gastrointestinal (GI) malignancies in Japan. (ASCO-GI 2024)
    As part of a nationwide cancer genome screening project, J-SCRUM GI SCREEN database provides comprehensive genomic information for Asian population (Japan). The prevalence of key actionable gene alterations in each tumor type was highly comparable between J-SCRUM GI-SCREEN and TCGA data.
    Clinical • Real-world evidence • BRCA Biomarker • Genomic data • Real-world
    |
    HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • MET (MET proto-oncogene, receptor tyrosine kinase) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MYC (V-myc avian myelocytomatosis viral oncogene homolog) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • NFE2L2 (Nuclear Factor, Erythroid 2 Like 2)
    |
    TP53 mutation • KRAS mutation • BRCA2 mutation • BRCA1 mutation • HER-2 amplification • PIK3CA mutation • MET amplification • KRAS G12D • ATM mutation • KRAS G12V • MYC amplification • CDKN2A mutation • ATM deletion • KRAS G12 • NFE2L2 mutation • KRAS deletion
    2years
    A Phase 2 Study of Acalabrutinib, Umbralisib, and Ublituximab (AU2) in Treatment-Naïve and Relapsed or Refractory Chronic Lymphocytic Leukemia (CLL) (ASH 2023)
    Immune-related adverse events were frequently observed and required dose reduction of umbralisib in 38% of the patients but most were then able to stay on therapy. Longer follow-up is required to determine durability of remission off therapy.
    P2 data • IO biomarker
    |
    TP53 (Tumor protein P53) • ATM (ATM serine/threonine kinase) • NOTCH1 (Notch 1) • SF3B1 (Splicing Factor 3b Subunit 1) • IGH (Immunoglobulin Heavy Locus) • PIK3CD (Phosphatidylinositol-4 5-Bisphosphate 3-Kinase Catalytic Subunit Delta)
    |
    TP53 mutation • ATM mutation • NOTCH1 mutation • SF3B1 mutation • ATM deletion • TS 12
    |
    Calquence (acalabrutinib) • Ukoniq (umbralisib) • Briumvi (ublituximab-xiiy)
    2years
    First-in-human Study of ATR Inhibitor BAY1895344 in Patients With Advanced Solid Tumors and Lymphomas (clinicaltrials.gov)
    P2, N=229, Completed, Bayer | Recruiting --> Completed | Trial completion date: Apr 2025 --> Sep 2023
    Trial completion • Trial completion date • Metastases
    |
    HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • PGR (Progesterone receptor) • ATM (ATM serine/threonine kinase)
    |
    ER positive • HR positive • HER-2 negative • ATM deletion • PGR positive • ATM expression • ATM positive
    |
    elimusertib (BAY 1895344)
    2years
    Landscape of ESR1 mutations in advanced breast cancer using circulating tumor DNA (ctDNA) next-generation sequencing (NGS) in Asia and Middle East (AME) (ESMO Asia 2023)
    Two pts each had homozygous deletions in ATM, BRCA2 and CHEK2; another had FGFR2 fusion (FGFR2-KIAA1598). Conclusions Comprehensive ctDNA NGS can identify ESR1 mutations along with co-alterations that may inform therapeutic decisions for patients with ABC in AME.
    BRCA Biomarker • Next-generation sequencing • Circulating tumor DNA • Metastases
    |
    EGFR (Epidermal growth factor receptor) • HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • MET (MET proto-oncogene, receptor tyrosine kinase) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • FGFR2 (Fibroblast growth factor receptor 2) • FGFR1 (Fibroblast growth factor receptor 1) • CCND1 (Cyclin D1) • CHEK2 (Checkpoint kinase 2) • GATA3 (GATA binding protein 3) • SHTN1 (Shootin 1)
    |
    TP53 mutation • ER positive • HER-2 amplification • PIK3CA mutation • MET amplification • FGFR2 mutation • FGFR2 fusion • ER mutation • ATM deletion • ER D538G • BRCA2 deletion • ESR1 mutation • BRCA1 deletion
    |
    Guardant360® CDx
    2years
    SF3B1 mutation and ATM deletion co-drive leukemogenesis via centromeric R-loop dysregulation. (PubMed, J Clin Invest)
    Aberrant splicing of key genes involved in R-loop processing underlies augmentation of cen-R-loop as overexpression of the normal isoform, but not the altered form, mitigates mitotic stress in SF3B1 mutant cells. Our study underscores the critical role of novel splice variants in linking RNA splicing dysregulation and CIN, and highlights cen-R-loop augmen-tation as a key mechanism for leukemogenesis.
    Journal
    |
    SF3B1 (Splicing Factor 3b Subunit 1)
    |
    ATM mutation • SF3B1 mutation • ATM deletion • ATM deletion + SF3B1 mutation • ATM expression
    over2years
    miR-18a expression correlates with ATM and p53 levels and poor prognosis in lymphomas. (PubMed, J Cancer)
    The results indicate that the deletion of ATM and p53 downstream of miR-18a is closely associated with the development of lymphoma. Thus, these biomarkers may serve as key prognostic biomarkers for lymphomas.
    Journal
    |
    TP53 (Tumor protein P53) • MIR18A (MicroRNA 18a)
    |
    TP53 deletion • ATM deletion • TP53 expression • ATM expression
    over2years
    First-in-human Study of ATR Inhibitor BAY1895344 in Patients With Advanced Solid Tumors and Lymphomas (clinicaltrials.gov)
    P2, N=239, Recruiting, Bayer | Trial completion date: Apr 2024 --> Apr 2025
    Trial completion date • Metastases
    |
    HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • PGR (Progesterone receptor) • ATM (ATM serine/threonine kinase)
    |
    ER positive • HR positive • HER-2 negative • ATM deletion • PGR positive • ATM expression • ATM positive
    |
    elimusertib (BAY 1895344)