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    BIOMARKER:

    ATM mutation

    i
    Other names: ATM, ATA, ATC, ATD, ATDC, TEL1, TELO1, ATM serine/threonine kinase
    Entrez ID:
    472
    Related biomarkers:
    Expression
    Mutation
    CNA
    Others
    Related tests:
    2d
    DDRiver Solid Tumours 301: Tuvusertib (M1774) in Participants With Metastatic or Locally Advanced Unresectable Solid Tumors (DDRiver Solid Tumors 301) (clinicaltrials.gov)
    P1, N=161, Active, not recruiting, EMD Serono Research & Development Institute, Inc. | Trial completion date: Jan 2027 --> Jul 2026 | Trial primary completion date: Jan 2027 --> Jul 2026
    Trial completion date • Trial primary completion date • First-in-human
    |
    ARID1A (AT-rich interaction domain 1A) • ATRX (ATRX Chromatin Remodeler)
    |
    ATM mutation • ARID1A mutation
    |
    Zejula (niraparib) • tuvusertib (M1774)
    3d
    Genomic characterization of DNA damage response pathway mutations reveals their adverse impact on EGFR-TKI efficacy in non-small cell lung cancer. (PubMed, Respir Res)
    Our study demonstrates a substantial prevalence of DDR mutations and their association with inferior EGFR-TKI efficacy, highlighting the importance of genomic profiling of DDR mutations to identify this high-risk subpopulation in EGFR-mutant NSCLC.
    Journal • Tumor mutational burden • BRCA Biomarker
    |
    TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • HRD (Homologous Recombination Deficiency) • MSH3 (MutS Homolog 3)
    |
    TP53 mutation • EGFR mutation • TMB-H • ATM mutation • TP53 wild-type
    3d
    KNIGHTS: High-Risk Metachronous Oligometastatic Prostate Cancer Trial (clinicaltrials.gov)
    P2, N=88, Active, not recruiting, University of Maryland, Baltimore | Recruiting --> Active, not recruiting
    Enrollment closed
    |
    TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • CHEK2 (Checkpoint kinase 2) • FANCA (FA Complementation Group A) • RAD51B (RAD51 Paralog B) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • CD4 (CD4 Molecule) • RAD54L (DNA Repair And Recombination Protein RAD54)
    |
    TP53 mutation • BRCA2 mutation • BRCA1 mutation • ATM mutation • PALB2 mutation • CHEK2 mutation • BRIP1 mutation • RAD51B mutation • RAD54L mutation
    |
    Zejula (niraparib) • abiraterone acetate • prednisone
    16d
    NCI-2018-01648: Ceralasertib (AZD6738) Alone and in Combination With Olaparib or Durvalumab in Patients With Solid Tumors (clinicaltrials.gov)
    P2, N=83, Active, not recruiting, Rahul Aggarwal | Recruiting --> Active, not recruiting
    Enrollment closed
    |
    MSI (Microsatellite instability) • ATM (ATM serine/threonine kinase) • ARID1A (AT-rich interaction domain 1A) • UGT1A1 (UDP glucuronosyltransferase family 1 member A1)
    |
    ATM mutation
    |
    Lynparza (olaparib) • Imfinzi (durvalumab) • ceralasertib (AZD6738)
    18d
    A Phase I/II Study of Sacituzumab Govitecan Plus Berzosertib in Small Cell Lung Cancer, Extra-Pulmonary Small Cell Neuroendocrine Cancer and Homologous Recombination-Deficient Cancers Resistant to PARP Inhibitors (clinicaltrials.gov)
    P1/2, N=35, Active, not recruiting, National Cancer Institute (NCI) | Recruiting --> Active, not recruiting | N=120 --> 35
    Enrollment closed • Enrollment change
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • CDK12 (Cyclin dependent kinase 12) • BRCA (Breast cancer early onset) • CHEK2 (Checkpoint kinase 2) • RAD51B (RAD51 Paralog B) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • CHEK1 (Checkpoint kinase 1) • BARD1 (BRCA1 Associated RING Domain 1) • RAD54L (DNA Repair And Recombination Protein RAD54) • FANCL (FA Complementation Group L) • PPP2R2A (Protein Phosphatase 2, Regulatory Subunit B, Alpha)
    |
    BRCA1 mutation • ATM mutation • PALB2 mutation • CDK12 mutation • CHEK2 mutation • BRIP1 mutation • RAD51C mutation • RAD51D mutation • RAD51B mutation • BARD1 mutation • CHEK1 mutation • RAD54L mutation
    |
    berzosertib (M6620) • Trodelvy (sacituzumab govitecan-hziy)
    26d
    Risk of Radiation-Associated Contralateral Breast Cancer in Germline Mutation Carriers: A Meta-Analysis and Systematic Review. (PubMed, Cancers (Basel))
    Rate ratio (RR) analysis showed a significant risk for ATM (2.98), while overall RR indicated more than a two-fold increased CBC risk with radiotherapy (RR = 2.70 common-effect; 2.53 random-effects). Radiotherapy significantly increases contralateral breast cancer risk, particularly in ATM and CHEK2 carriers, emphasizing the importance of personalized genetic risk stratification in treatment decisions.
    Retrospective data • Review • Journal • BRCA Biomarker
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • CHEK2 (Checkpoint kinase 2)
    |
    BRCA1 mutation • ATM mutation • CHEK2 mutation
    26d
    A Pancreatic Cancer Screening Study in Hereditary High Risk Individuals (clinicaltrials.gov)
    P=N/A, N=200, Recruiting, Nuvance Health | Trial completion date: Nov 2026 --> Nov 2030 | Trial primary completion date: Nov 2026 --> Nov 2030
    Trial completion date • Trial primary completion date
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2)
    |
    BRCA1 mutation • ATM mutation • PALB2 mutation
    1m
    Pembrolizumab for high TMB castration-resistant prostate cancer: A precision medicine case report. (PubMed, Int Cancer Conf J)
    Initially diagnosed with BRAF V600E-mutated melanoma, he received Dabrafenib and Trametinib...Despite initial treatment with Triptorelin, Docetaxel, and Abiraterone, disease progression occurred...This case illustrates the value of precision medicine and the role of liquid biopsy in guiding immunotherapy decisions for complex oncological cases. It supports the relevance of molecular profiling in selecting effective treatments beyond standard indications.
    Journal • Tumor mutational burden • BRCA Biomarker • PD(L)-1 Biomarker • IO biomarker
    |
    BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • BRCA2 (Breast cancer 2, early onset)
    |
    TP53 mutation • BRAF V600E • TMB-H • BRAF V600 • ATM mutation
    |
    Keytruda (pembrolizumab) • Mekinist (trametinib) • Tafinlar (dabrafenib) • docetaxel • abiraterone acetate • triptorelin
    1m
    Genetic Predisposition to Pancreatic Cancer: A Systematic Review of Hereditary Syndromes and Familial Aggregation. (PubMed, Cancers (Basel))
    Identifying high-risk individuals is crucial for effective genetic counseling, testing, and potential screening programs to facilitate early diagnosis and improve outcomes. Future research should prioritize large prospective cohorts, screening programs, and the integration of emerging technologies, such as AI-assisted imaging.
    Review • Journal • BRCA Biomarker
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • STK11 (Serine/threonine kinase 11) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2)
    |
    BRCA2 mutation • BRCA1 mutation • ATM mutation • STK11 mutation
    2ms
    Niraparib in Patients With Pancreatic Cancer (clinicaltrials.gov)
    P2, N=32, Completed, Dana-Farber Cancer Institute | Active, not recruiting --> Completed
    Trial completion
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • CHEK2 (Checkpoint kinase 2)
    |
    BRCA2 mutation • BRCA1 mutation • ATM mutation • PALB2 mutation • CHEK2 mutation
    |
    Zejula (niraparib)
    2ms
    Remarkable response to radiation in a non-enhancing diffuse pediatric-type high-grade glioma with germline ATM mutation: The role of PET imaging and integrated histological and molecular analysis. (PubMed, Neurooncol Adv)
    The patient received craniospinal radiation with a boost and concurrent temozolomide. She achieved rapid and significant neurologic recovery of function with KPS increasing to 90, accompanied by radiographic improvement. This case highlights the utility of PET/MRI in biopsy planning and underscores the importance of integrated histological and molecular diagnosis for management of non-enhancing gliomas.
    Journal
    |
    ATM (ATM serine/threonine kinase)
    |
    ATM mutation • IDH wild-type
    |
    temozolomide
    2ms
    Molecular Genetic Demonstration of the Evolution of Transformed Mycosis Fungoides: A Clinicopathological and Molecular Case Study. (PubMed, J Cutan Pathol)
    Many of the mutations described implicate driver mutations in advanced-stage MF and have been associated with poor survival. While there is no evidence suggesting a singular mutation for the pathogenesis of LCT, the constellation of mutations may be responsible for histologic progression to LCT.
    Journal
    |
    TP53 (Tumor protein P53) • NRAS (Neuroblastoma RAS viral oncogene homolog) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • TET2 (Tet Methylcytosine Dioxygenase 2) • IKZF1 (IKAROS Family Zinc Finger 1) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1) • CARD11 (Caspase Recruitment Domain Family Member 11) • CDK6 (Cyclin-dependent kinase 6)
    |
    TP53 mutation • ATM mutation • TET2 mutation