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    GENE:

    ATM (ATM serine/threonine kinase)

    i
    4d
    The breast tumor immune microenvironment of DNA double-strand break repair pathogenic variant carriers is enriched with tumor-associated macrophages. (PubMed, Cancer Epidemiol Biomarkers Prev)
    These results support further characterization of macrophage characteristics and abundance in the breast tumor microenvironment of DSB repair-related pathogenic variant carriers.
    Journal • BRCA Biomarker
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • PALB2 (Partner and localizer of BRCA2) • CHEK2 (Checkpoint kinase 2) • 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)) • FANCM (FA Complementation Group M) • STAT1 (Signal Transducer And Activator Of Transcription 1) • RECQL (RecQ Like Helicase) • FANCC (FA Complementation Group C)
    5d
    Long-Term Survival Following Chemoradiation in Locoregional Recurrent Germline ATM Mutated Pancreatic Ductal Adenocarcinoma. (PubMed, Adv Radiat Oncol)
    No abstract available
    Journal
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    ATM (ATM serine/threonine kinase)
    |
    ATM mutation
    10d
    ATM is associated with the prognosis of colorectal cancer: a systematic review. (PubMed, Front Oncol)
    Low ATM expression level may be a marker of poor survival in colorectal cancer and contributes to resistance to therapy. Targeting related factors in these pathways to sensitize tumors to treatment is a potential therapeutic strategy, and monitoring ATM status could be a valuable guide independent of the immunotherapy or chemotherapy strategy used.
    Review • Journal • IO biomarker
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    ATM (ATM serine/threonine kinase)
    13d
    Atypical Fibroxanthoma-Like Melanoma: A Rare Subtype of High-Cumulative Sun Damage Melanoma With Partial Dedifferentiation and an Aggressive Molecular Profile. (PubMed, Cureus)
    The high tumor mutational burden and aggressive molecular profile align with the reported poor prognosis of dedifferentiated melanomas. Recognizing this rare variant is critical for accurate diagnosis, effective patient management, and prognosis assessment.
    Journal • Tumor mutational burden
    |
    TMB (Tumor Mutational Burden) • NRAS (Neuroblastoma RAS viral oncogene homolog) • ATM (ATM serine/threonine kinase) • NF1 (Neurofibromin 1) • TERT (Telomerase Reverse Transcriptase) • PBRM1 (Polybromo 1) • FAT1 (FAT atypical cadherin 1) • SOX10 (SRY-Box 10)
    |
    TMB-H • NRAS mutation • ATM mutation
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    DecisionDx®-Melanoma
    15d
    Dual inhibition of ATR and DNA-PKcs radiosensitizes ATM-mutant prostate cancer. (PubMed, Oncogene)
    Compound B effectively radiosensitized ATM-deficient CRPC in vitro and in vivo, and impacted replication fork dynamics. Overall, dual targeting of both ATR and DNA-PKcs is necessary to block DDR in ATM-deficient CRPC, and Compound B could be utilized as a novel therapy in combination with irradiation in these patients.
    Journal
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    ATM (ATM serine/threonine kinase) • AVEN (Apoptosis And Caspase Activation Inhibitor) • RUVBL1 (RuvB Like AAA ATPase 1)
    |
    ATM mutation
    15d
    Genomic analysis of small renal masses reveals mutations linked with renal cell carcinoma and fast-growing tumors. (PubMed, J Cancer Res Clin Oncol)
    Genomic biomarkers may improve risk stratification and management of patients with SRMs, however a more extensive genomic analysis of SRMs is still needed.
    Journal
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    KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • ATM (ATM serine/threonine kinase) • HNF1A (HNF1 Homeobox A)
    |
    TP53 mutation • KRAS mutation • ATM mutation
    15d
    Analysis of germline-somatic mutational connections in colorectal cancer reveals differential tumorigenic patterns and a novel predictive marker for germline mutation carriers. (PubMed, Cancer Lett)
    Our findings elucidate different germline tumorigenic patterns not driven by deficient MMR. Somatic ERBB2 amplification in CRC can serve as an indicator for germline genetic testing when traditional risk features are absent.
    Journal • BRCA Biomarker
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    HER-2 (Human epidermal growth factor receptor 2) • TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • HRD (Homologous Recombination Deficiency) • ARID1A (AT-rich interaction domain 1A) • CHEK2 (Checkpoint kinase 2) • KDM6A (Lysine Demethylase 6A)
    |
    TP53 mutation • HER-2 amplification • ARID1A mutation
    16d
    A woman with a pleural mesothelioma and an inherited ATM mutation-a case report. (PubMed, Ann Transl Med)
    Awareness of ATM mutations can optimize therapeutic strategies, particularly regarding RT choices, in managing this challenging malignancy. Integrating genetic insights into clinical practice holds promise for enhancing treatment outcomes and refining management strategies in PM and related conditions.
    Journal • IO biomarker
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    ATM (ATM serine/threonine kinase)
    |
    ATM mutation
    18d
    RECLASSIFICATION OF ATM MISSENSE VARIANTS OF UNCERTAIN SIGNIFICANCE BY INTEGRATING RESULTS FROM SYSTEMATIC FUNCTIONAL ASSAYS INTO AN ACMG POINTS-BASED FRAMEWORK. (PubMed, Clin Cancer Res)
    We have established functional assays as a reliable tool that will better interpret the clinical impact of ATM variants and guide improved cancer prevention measures for carriers.
    Journal
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    ATM (ATM serine/threonine kinase)
    19d
    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: Mar 2025 --> Dec 2025 | Recruiting --> Active, not recruiting
    Enrollment closed • Trial completion date
    |
    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)
    |
    HER-2 negative • HRD • PALB2 mutation • RAD51C mutation • BRCA mutation
    |
    Lynparza (olaparib) • carboplatin • Imfinzi (durvalumab) • ceralasertib (AZD6738) • saruparib (AZD5305)
    20d
    Pembrolizumab and olaparib in a cisplatin-refractory testicular cancer patient with a high TMB: first case report. (PubMed, Ther Adv Urol)
    In addition, the patient developed an immune-related pneumonitis with a fatal outcome 3 months later. NGS with subsequent targeted treatment possibilities might present a helpful step toward precision medicine in GCT patients who have exhausted all other conventional treatment options, and genetic testing should therefore be offered to patients prior to progression.
    Journal • Tumor mutational burden • PARP Biomarker • PD(L)-1 Biomarker
    |
    PD-L1 (Programmed death ligand 1) • TMB (Tumor Mutational Burden) • ATM (ATM serine/threonine kinase)
    |
    PD-L1 expression • TMB-H
    |
    Keytruda (pembrolizumab) • Lynparza (olaparib) • cisplatin
    23d
    Anticancer potential of purified laccase enzyme from Trametes versicolor: specific cytotoxicity against thyroid and endometrial cancer cells. (PubMed, Mol Biol Rep)
    Our results emphasize the specific cytotoxicity and molecular mechanisms underlying the anti-cancer effect of laccase and demonstrate that laccase is capable of selectively targeting cancer cells and causing apoptosis and DNA damage. This study demonstrates the potential of laccase as a novel enzymatic therapeutic for the treatment of thyroid and endometrial cancer and warrants further investigation into its clinical application and efficacy.
    Journal
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    BCL2 (B-cell CLL/lymphoma 2) • ATM (ATM serine/threonine kinase) • RAD51 (RAD51 Homolog A) • BAX (BCL2-associated X protein)
    24d
    Mutant KRAS and GATA6 Stratify Survival in Patients Treated with Chemotherapy for Pancreatic Adenocarcinoma: A Prospective Cohort Study. (PubMed, Cancers (Basel))
    Plasma mutant KRAS ctDNA concentrations and GATA6 expression could serve as significant prognostic biomarkers in patients with PA, potentially guiding therapeutic decisions and prognostication.
    Journal • BRCA Biomarker
    |
    KRAS (KRAS proto-oncogene GTPase) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • GATA6 (GATA Binding Protein 6) • DCK (Deoxycytidine Kinase 2) • SLC29A1 (Solute Carrier Family 29 Member 1) • CA 19-9 (Cancer antigen 19-9)
    |
    KRAS mutation • ATM mutation
    25d
    Rare germline ATM variants predispose to secondary cancer in chronic lymphocytic leukaemia patients. (PubMed, Cancer Commun (Lond))
    No abstract available
    Journal
    |
    ATM (ATM serine/threonine kinase)
    25d
    Breast tumors from ATM pathogenic variant carriers display a specific genome-wide DNA methylation profile. (PubMed, Breast Cancer Res)
    We showed that breast tumors that arise in women who carry an ATM PV display a specific genome-wide DNA methylation profile. Specifically, the methylation pattern of 27 key gene promoters was predictive of ATM PV status of the women. These genes may also represent new medical prevention and therapeutic targets for these women.
    Journal
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    ATM (ATM serine/threonine kinase)
    25d
    Pathogenic germline variants in cancer predisposition genes in patients with multiple primary cancers in an Asian population and the role of extended panel genetic testing. (PubMed, ESMO Open)
    Patients with MPC were more likely to harbour a PGV. Extended testing improved PGV detection rates, particularly for less well-known cancer predisposition genes.
    Journal • BRCA Biomarker
    |
    TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • HRD (Homologous Recombination Deficiency) • PALB2 (Partner and localizer of BRCA2) • TET2 (Tet Methylcytosine Dioxygenase 2) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • CHEK2 (Checkpoint kinase 2) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • MBD4 (Methyl-CpG Binding Domain 4, DNA Glycosylase) • BARD1 (BRCA1 Associated RING Domain 1) • DDX41 (DEAD-Box Helicase 41) • FANCL (FA Complementation Group L) • CTNNA1 (Catenin Alpha 1) • RECQL4( RecQ Like Helicase 4) • SPINK1 (Serine peptidase inhibitor, kazal type 1) • CDKN1C (Cyclin Dependent Kinase Inhibitor 1C) • TNFRSF13B (TNF Receptor Superfamily Member 13B)
    28d
    Combining the RCAS/tv-a retrovirus and CRISPR/Cas9 gene editing systems to generate primary mouse models of diffuse midline glioma. (PubMed, Neoplasia)
    Quantification of gRNA barcodes and CRISPR editing events revealed that all tumors contained cells with various disruptions of all target genes and suggested a multiclonal origin for the tumors as well as stronger selection for Trp53 disruption compared to disruption of the other genes. This mouse modeling approach will streamline midline glioma research and enable complex experiments to understand tumor evolution and therapeutics.
    Preclinical • Journal
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    TP53 (Tumor protein P53) • PTEN (Phosphatase and tensin homolog) • ATM (ATM serine/threonine kinase) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A)
    1m
    UK-based clinical testing programme for somatic and germline BRCA1/2, ATM and CDK12 mutations in prostate cancer: first results. (PubMed, BMJ Oncol)
    BRCA2 and CDK12 somatic PVs do not appear to be mutually exclusive. BRCA1 does not appear to be a significant contributor to prostate cancer progression.
    Journal • BRCA Biomarker
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • PALB2 (Partner and localizer of BRCA2) • CDK12 (Cyclin dependent kinase 12)
    |
    CDK12 mutation
    1m
    Fibroblast-based radiosensitivity assays as a clinically valuable tool for (severe) combined immunodeficiency syndromes. (PubMed, Mutat Res Genet Toxicol Environ Mutagen)
    While both ATM defective fibroblasts clearly showed increased radiation-induced MN yields, one of the two fibroblast cell lines could not be identified as radiosensitive based on residual γH2AX focus levels. This study suggests that combining the fibroblast MN assay and γH2AX focus test can effectively exclude in vitro radiosensitivity in patients with a suspicion of radiosensitive (S)CID, particularly when lymphocyte-based radiosensitivity testing is not feasible.
    Journal
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    ATM (ATM serine/threonine kinase) • RAG1 (Recombination Activating 1)
    1m
    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 2025 --> Jan 2026 | Trial primary completion date: Jan 2025 --> Jan 2026
    Trial completion date • Trial primary completion date
    |
    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)
    |
    MSK-IMPACT
    |
    Keytruda (pembrolizumab) • Lynparza (olaparib)
    1m
    Causative Genes of Homologous Recombination Deficiency (HRD)-Related Breast Cancer and Specific Strategies at Present. (PubMed, Curr Oncol)
    Therefore, a large-scale database, including clinical information and a long-term follow-up should be established, after which a periodical assessment is mandatory. The clinical behavior of each gene should be clarified based on a large-scale database, or, in other words, real-world data.
    Review • Journal • BRCA Biomarker • PARP Biomarker
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    ATM (ATM serine/threonine kinase) • HRD (Homologous Recombination Deficiency) • ARID1A (AT-rich interaction domain 1A) • PALB2 (Partner and localizer of BRCA2) • ATRX (ATRX Chromatin Remodeler) • BRCA (Breast cancer early onset) • CHEK2 (Checkpoint kinase 2) • RAD51C (RAD51 paralog C) • BARD1 (BRCA1 Associated RING Domain 1)
    |
    HRD • BRCA mutation
    1m
    SETD1A-dependent EME1 transcription drives PARPi sensitivity in HR deficient tumour cells. (PubMed, Br J Cancer)
    Loss of SETD1A or EME1 drives cellular resistance to Olaparib in certain genetic contexts and may help explain why patients develop resistance to PARP inhibitors in the clinic.
    Journal • BRCA Biomarker • PARP Biomarker
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • SETD1A (SET Domain Containing 1A)
    |
    Lynparza (olaparib)
    1m
    Beyond the BRCA1/2 genes in ovarian cancer: the role of germline pathogenic variants in the ATM gene. (PubMed, Mol Biol Rep)
    Carriers of heterozygous pathogenic variants in the ATM gene have an increased risk of neoplasms incidence, mostly breast but also of OC with an absolute estimated risk of 2-3 times greater than the general population. For these patients there is not well-established evidence of benefit in risk reducing bilateral Salpingo-oophorectomy.
    Journal • BRCA Biomarker
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase)
    2ms
    Comprehensive genomic profiling of Chinese lung cancer characterizes germline-somatic mutation interactions influencing cancer risk. (PubMed, J Transl Med)
    This study underscores the prevalence of germline mutations in Chinese lung cancer patients, identifying significant associations with clinical characteristics and somatic mutation profiles. The findings highlight the importance of considering germline mutations in lung cancer treatment and the potential benefits of personalized therapy based on genetic susceptibility.
    Journal • BRCA Biomarker • PD(L)-1 Biomarker • IO biomarker
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    PD-L1 (Programmed death ligand 1) • TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • mTOR (Mechanistic target of rapamycin kinase) • MSH6 (MutS homolog 6) • CHEK2 (Checkpoint kinase 2)
    |
    PD-L1 expression • TP53 mutation • ATM mutation • CHEK2 mutation
    2ms
    Cellpose as a reliable method for single-cell segmentation of autofluorescence microscopy images. (PubMed, Sci Rep)
    Masks generated from ATM and manual segmentation also maintain similar means, variances, and effect sizes between treatments for the ORR and FLIM parameters. Overall, the Cellpose ATM provides a fast, reliable, reproducible, and accurate method to segment single cells in autofluorescence microscopy images such that functional changes in cells are accurately captured in both 2D and 3D culture.
    Journal
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    ATM (ATM serine/threonine kinase)
    2ms
    Mutations in homologous recombination repair genes in patients with metastatic endometrial cancer: association with clinical characteristics and prognosis. (PubMed, J Gynecol Oncol)
    Somatic HRR mutations are detected in 11.8% of metastatic EC. Compared with noncarriers, HRR mutation carriers in metastatic EC have higher proportions of endometrioid carcinoma, POLEmut, and dMMR subtypes, and unique metastatic patterns. However, the prognoses are similar regardless of HRR status.
    Journal • BRCA Biomarker
    |
    TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • HRD (Homologous Recombination Deficiency) • PALB2 (Partner and localizer of BRCA2) • CDK12 (Cyclin dependent kinase 12) • 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)
    |
    TP53 mutation • MSI-H/dMMR • ATM mutation • PALB2 mutation • CDK12 mutation • CHEK2 mutation • BRIP1 mutation • RAD51C mutation • RAD51D mutation • BARD1 mutation
    2ms
    Defective DNA Repair: A Putative Nexus Linking Immunological Diseases, Neurodegenerative Disorders, and Cancer. (PubMed, Mutagenesis)
    This highlights the versatility of the DDR pathway in multifactorial diseases. However, the specific mechanisms that regulate DDR to initiate distinct pathogenic processes remain to be elucidated.
    Journal
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    ATM (ATM serine/threonine kinase) • RAD51B (RAD51 Paralog B) • WNT3 (Wnt Family Member 3)
    2ms
    Higher Selective Targeting of Telomeric Multimeric G-quadruplex by Natural Product Berberine. (PubMed, Curr Med Chem)
    This study provides a hypothetical basis for the development of natural products targeting telomeric G4 as antitumor drugs.
    Journal
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    ATM (ATM serine/threonine kinase) • ETV6 (ETS Variant Transcription Factor 6)
    2ms
    Association of Prior PARP Inhibitor Exposure with Clinical Outcomes after 177Lu-PSMA-617 in Men with Castration-resistant Prostate Cancer and Mutations in DNA Homologous Recombination Repair Genes. (PubMed, Eur Urol Oncol)
    PARPi exposure is associated with inferior LuPSMA outcomes, particularly for patients with BRCA2 alterations. These findings suggest potential cross-resistance and underscore the need for prospective studies assessing the optimal sequencing of these agents.
    Clinical data • Journal • BRCA Biomarker • PARP Biomarker
    |
    BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • HRD (Homologous Recombination Deficiency)
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    Pluvicto (lutetium Lu 177 vipivotide tetraxetan)
    2ms
    Retrospective Study of Genetic Testing Results Reveals Pathogenic Variants Beyond BRCA1/2 in Hereditary Breast and Ovarian Cancer Cases in New Brunswick: Implications for Future Care. (PubMed, Cancer Med)
    This study demonstrates a distinct profile in hereditary breast cancer genetics in a previously uncharacterized population, thus adding to existing knowledge of population genetics in Atlantic Canada.
    Retrospective data • Journal • BRCA Biomarker
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • CHEK2 (Checkpoint kinase 2)
    2ms
    Pterostilbene Suppressed Cell Viability, Induced Apoptosis and Autophagy of Cisplatin-resistant Gastric Cancer Cells. (PubMed, Anticancer Res)
    Our results suggested that PTS is a promising phytochemical for GC therapy, particularly against cisplatin resistance.
    Journal
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    ATM (ATM serine/threonine kinase) • HIF1A (Hypoxia inducible factor 1, alpha subunit) • ATR (Ataxia telangiectasia and Rad3-related protein) • CASP3 (Caspase 3) • CASP9 (Caspase 9) • PI3K (Phosphoinositide 3-kinases)
    |
    cisplatin
    2ms
    PARP inhibitor-based treatment in metastatic, castration-resistant prostate cancer (mCRPC): A systematic review and meta-analysis. (PubMed, BJUI Compass)
    PARPi-based therapy represents a compelling treatment option for HRR+ mCRPC, mainly BRCA1/2-mutated patients. However, further biomarker analysis are needed in order to identify other responsive patients across the different disease settings.
    Clinical • Retrospective data • Journal • BRCA Biomarker • PARP Biomarker
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • AR (Androgen receptor) • HRD (Homologous Recombination Deficiency)
    |
    ATM mutation
    2ms
    OPTIMUM: Olaparib with or Without Durvalumab for DDR Gene Mutated Biliary Tract Cancer Following Platinum-based Chemotherapy (clinicaltrials.gov)
    P2, N=62, Recruiting, Asan Medical Center | Trial completion date: Dec 2025 --> Dec 2026 | Trial primary completion date: Dec 2024 --> Dec 2025
    Trial completion date • Trial primary completion date
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • POLE (DNA Polymerase Epsilon) • BAP1 (BRCA1 Associated Protein 1) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • BRCA (Breast cancer early onset) • 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) • RAD51D (RAD51 paralog D) • CHEK1 (Checkpoint kinase 1) • BARD1 (BRCA1 Associated RING Domain 1) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • XRCC2 (X-Ray Repair Cross Complementing 2) • FANCD2 (FA Complementation Group D2) • GEN1 (GEN1 Holliday junction 5' flap endonuclease)
    |
    ATM mutation • CHEK2 mutation • BRIP1 mutation • BARD1 mutation
    |
    Lynparza (olaparib) • Imfinzi (durvalumab)
    2ms
    The Ataxia-telangiectasia mutated (ATM) is the most important gene for repairing the DNA in Myelodysplastic Neoplasm. (PubMed, DNA Repair (Amst))
    The findings suggest that ATM is frequently silenced or downregulated in MDS due to methylation or mutations, contributing to the progression to AML. This highlights ATM's potential role in the disease's advancement and as a target for future therapeutic strategies.
    Journal • BRCA Biomarker
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • RAD51 (RAD51 Homolog A) • XPC (XPC Complex Subunit, DNA Damage Recognition And Repair Factor) • XPA (XPA, DNA Damage Recognition And Repair Factor)
    2ms
    NCI-2018-01648: Ceralasertib (AZD6738) Alone and in Combination With Olaparib or Durvalumab in Patients With Solid Tumors (clinicaltrials.gov)
    P2, N=89, Recruiting, Rahul Aggarwal | Trial completion date: Jul 2025 --> Sep 2027 | Trial primary completion date: Jul 2025 --> Sep 2027
    Trial completion date • Trial primary completion date
    |
    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)
    2ms
    Adjusting for Ascertainment Bias in Meta-Analysis of Penetrance for Cancer Risk. (PubMed, Stat Med)
    The overall estimated BC risk for individuals with pathogenic variants are (1) 5.77% (3.22%-9.67%) by age 50 and 26.13% (20.31%-32.94%) by age 80 for ATM; (2) 12.99% (6.48%-22.23%) by age 50, and 44.69% (34.40%-55.80%) by age 80 for PALB2. The proposed method allows meta-analyses to include studies with ascertainment bias, resulting in inclusion of more studies and thereby more accurate estimates.
    Retrospective data • Journal
    |
    ATM (ATM serine/threonine kinase) • PALB2 (Partner and localizer of BRCA2)
    2ms
    NTRK gene fusion and molecular pathological characteristics of mismatch repair deficient colorectal cancer (PubMed, Zhonghua Bing Li Xue Za Zhi)
    Its diffusely strong expression is highly suggestive of NTRK1 gene fusion. TPM3-NTRK1 gene fusion is a common form of NTRK gene fusion in dMMR colorectal cancer.
    Journal • Mismatch repair • Tumor mutational burden • MSi-H Biomarker
    |
    EGFR (Epidermal growth factor receptor) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • ALK (Anaplastic lymphoma kinase) • TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • NRAS (Neuroblastoma RAS viral oncogene homolog) • MSI (Microsatellite instability) • KIT (KIT proto-oncogene, receptor tyrosine kinase) • ROS1 (Proto-Oncogene Tyrosine-Protein Kinase ROS) • NTRK1 (Neurotrophic tyrosine kinase, receptor, type 1) • ATM (ATM serine/threonine kinase) • RNF43 (Ring Finger Protein 43) • TPM3 (Tropomyosin 3) • NTRK (Neurotrophic receptor tyrosine kinase)
    |
    TP53 mutation • BRAF V600E • EGFR mutation • TMB-H • MSI-H/dMMR • NRAS mutation • BRAF V600 • ATM mutation • KIT mutation • ALK mutation • NTRK fusion
    2ms
    Therapeutic Potential of Lappula patula Extracts on Germline Development and DNA Damage Responses in C. elegans. (PubMed, Pharmaceuticals (Basel))
    Lappula patula extracts exhibit potent nematocidal and cytotoxic properties, suggesting their potential for cancer therapy. The observed DNA damage and apoptosis in C. elegans emphasize the extract's promising role in anti-cancer drug development. Further studies are needed to explore the therapeutic potential of these compounds in clinical settings.
    Journal
    |
    ATM (ATM serine/threonine kinase)
    3ms
    Germline variants detected by multigene panel testing in patients with suspected hereditary breast cancer. (PubMed, Surg Today)
    VUSs are frequently identified during testing and it is important to monitor these individuals because VUS evaluations can change over time.
    Journal • BRCA Biomarker
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • PALB2 (Partner and localizer of BRCA2) • MLH1 (MutL homolog 1) • CDH1 (Cadherin 1) • CHEK2 (Checkpoint kinase 2)
    3ms
    Comparison of genetic mutations of gastric cancer diagnosed before or after H. pylori eradication and between differentiated and undifferentiated types using next-generation sequencing. (PubMed, Dig Dis)
    Several definite genetic mutations involved in GC were observed. Mutations were less frequent in post-eradication differentiated GC. However, because of small number of cases analyzed to identify carcinogenic differences, further analysis with a large number of cases and with strictly grading GC samples is needed.
    Journal • Next-generation sequencing
    |
    TP53 (Tumor protein P53) • ATM (ATM serine/threonine kinase) • CTNNB1 (Catenin (cadherin-associated protein), beta 1)
    |
    TP53 mutation • ATM mutation • CTNNB1 mutation
    |
    Ion AmpliSeq™ Cancer Hotspot Panel v2
    3ms
    Preliminary Evaluation of Screening for Pancreatic Cancer in Patients with Inherited Genetic Risk (clinicaltrials.gov)
    P=N/A, N=200, Recruiting, Abramson Cancer Center at Penn Medicine | Trial completion date: May 2028 --> May 2030 | Trial primary completion date: May 2026 --> May 2028
    Trial completion date • Trial primary completion date
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • PALB2 (Partner and localizer of BRCA2)
    |
    BRCA2 mutation • BRCA1 mutation • ATM mutation • PALB2 mutation
    3ms
    Breast Cancer Susceptibility Gene Sequence Variations and Development of Contralateral Breast Cancer. (PubMed, JAMA Netw Open)
    In this case-control study of CBC, deleterious variants in breast cancer susceptibility genes were differentially associated with ER-specific CBC development. Germline variation profile may inform estimates of outcomes for ER-specific CBC subtypes.
    Journal • BRCA Biomarker
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    ER (Estrogen receptor) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • CHEK2 (Checkpoint kinase 2)
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    ER positive • ER negative