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    BIOMARKER:

    PRKDC mutation

    i
    Other names: PRKDC, Protein Kinase, DNA-Activated, Catalytic Subunit, Protein Kinase, DNA-Activated, Catalytic Subunit, DNA-Dependent Protein Kinase Catalytic Subunit, DNA-PKcs, DNPK1, P460, Protein Kinase, DNA-Activated, Catalytic Polypeptide, DNA-PK Catalytic Subunit, DNA-PKC, DNAPKc, DNAPK, HYRC1, XRCC7, HYRC, P350, Hyper-Radiosensitivity Of Murine Scid Mutation, Complementing 1, IMD26
    Entrez ID:
    5591
    over1year
    Molecular evolution of intestinal-type early gastric cancer according to Correa cascade. (PubMed, J Biomed Res)
    Additionally, the retrospective validation study of 39 patients diagnosed with LGIN indicated that PRKDC mutations, in addition to TP53 mutations, may drive LGIN progression to HGIN or EGC. In conclusion, the current study unveils the genomic evolution across the Correa cascade of intestinal-type gastric cancer, elucidates the underlying molecular mechanisms of gastric carcinogenesis, and provides some evidence for potential personalized gastric cancer surveillance.
    Journal
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    TP53 (Tumor protein P53) • PRKDC (Protein Kinase, DNA-Activated, Catalytic Subunit) • PCLO (Piccolo Presynaptic Cytomatrix Protein)
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    TP53 mutation • PRKDC mutation
    over2years
    Characterization of DNA Damage Response-Associated Somatic Mutations in Borderline Resectable and Locally Advanced Pancreatic Cancer. (PubMed, Int J Radiat Oncol Biol Phys)
    Herein, we characterized the frequency of somatic mutations associated with DSB repair genes in patients with BRPC/LAPC. Data analysis on outcomes related to radiation response in patients with mutations in DDR pathways is ongoing, but will likely also benefit from multi-institutional efforts to increase the power to answer this question.
    Journal • BRCA Biomarker • Metastases
    |
    KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • PALB2 (Partner and localizer of BRCA2) • SMAD4 (SMAD family member 4) • RAD51B (RAD51 Paralog B) • RAD50 (RAD50 Double Strand Break Repair Protein) • MRE11A (MRE11 homolog, double strand break repair nuclease) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • RAD54L (DNA Repair And Recombination Protein RAD54) • PRKDC (Protein Kinase, DNA-Activated, Catalytic Subunit)
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    TP53 mutation • KRAS mutation • BRCA2 mutation • BRCA1 mutation • ATM mutation • PALB2 mutation • CDKN2A mutation • SMAD4 mutation • RAD50 mutation • RAD51B mutation • BLM mutation • RAD54L mutation • NBN mutation • PRKDC mutation • RAD51 mutation
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    FoundationOne® CDx
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    gemcitabine • 5-fluorouracil • albumin-bound paclitaxel • irinotecan • leucovorin calcium
    over2years
    Characterization of DNA Damage Response-Associated Somatic Mutations in Borderline Resectable and Locally Advanced Pancreatic Cancer (ASTRO 2023)
    Chemotherapy consisted of modified FOLFIRINOX or gemcitabine/nab-paclitaxel, and patients were treated with SBRT in 33 Gy in 5 fractions... Herein, we characterized the frequency of somatic mutations associated with DSB repair genes in patients with BRPC/LAPC. Data analysis on outcomes related to radiation response in patie nts with mutations in DDR pathways is ongoing, but will likely also benefit from multi-institutional efforts to increase the power to answer this question .
    BRCA Biomarker • Metastases
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    KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • PALB2 (Partner and localizer of BRCA2) • SMAD4 (SMAD family member 4) • RAD51B (RAD51 Paralog B) • RAD50 (RAD50 Double Strand Break Repair Protein) • MRE11A (MRE11 homolog, double strand break repair nuclease) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • RAD54L (DNA Repair And Recombination Protein RAD54) • PRKDC (Protein Kinase, DNA-Activated, Catalytic Subunit)
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    TP53 mutation • KRAS mutation • BRCA2 mutation • BRCA1 mutation • ATM mutation • PALB2 mutation • CDKN2A mutation • SMAD4 mutation • RAD50 mutation • RAD51B mutation • BLM mutation • RAD54L mutation • NBN mutation • PRKDC mutation • RAD51 mutation
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    FoundationOne® CDx
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    gemcitabine • 5-fluorouracil • albumin-bound paclitaxel • irinotecan • leucovorin calcium
    almost4years
    Molecular and immune landscape of FH-mutated cancers. (ASCO 2022)
    FH alterations are found in multiple cancers. A41V was the most common VUS mutation and is associated with a distinct molecular profile compared to K477dup-mt and R233-mt tumors; it was associated with worse survival in all-comers and after chemotherapy compared to P+LP mutations. This highlights the significance of this mutation and the need for further investigation into how this specific and other FH mutations contribute to cancer progression and treatment outcomes.
    PD(L)-1 Biomarker • MSi-H Biomarker • IO biomarker
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    PD-L1 (Programmed death ligand 1) • TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • FBXW7 (F-Box And WD Repeat Domain Containing 7) • CREBBP (CREB binding protein) • FH (Fumarate Hydratase) • DICER1 (Dicer 1 Ribonuclease III) • PRKDC (Protein Kinase, DNA-Activated, Catalytic Subunit)
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    TMB-H • MSI-H/dMMR • FBXW7 mutation • CREBBP mutation • PRKDC mutation
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    PD-L1 IHC 22C3 pharmDx • VENTANA PD-L1 (SP142) Assay • PD-L1 IHC 28-8 pharmDx
    almost4years
    Braf-altered microsatellite-stable metastatic colorectal cancer: A niche for immunotherapy (AACR 2022)
    BRAF-mutated malignancies represent a sub-population of MSS CRC with higher TMB, which could benefit from a combination of regorafenib and nivolumab therapy.
    PD(L)-1 Biomarker • IO biomarker
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    BRAF (B-raf proto-oncogene) • TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • CTLA4 (Cytotoxic T-Lymphocyte Associated Protein 4) • PRKDC (Protein Kinase, DNA-Activated, Catalytic Subunit)
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    TMB-H • BRAF mutation • BRAF V600 • PRKDC mutation
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    Opdivo (nivolumab) • Stivarga (regorafenib)
    over4years
    [VIRTUAL] PRKDC Mutations Recurrently Found in Non - Small Cell Lung Cancer in East Asian Patients (IASLC-WCLC 2021)
    Conclusion BCOR, TP53, ARID1A, KRAS gene accompanied may have less correlation with PRKDC mutation in NSCLC patients. Next generation sequencing provides a simplified strategy and reasonably high detection rate for PRKDC mutation, which suggested application of the strategies into clinical molecular diagnostics.
    Clinical
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    KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • ARID1A (AT-rich interaction domain 1A) • BCOR (BCL6 Corepressor) • PRKDC (Protein Kinase, DNA-Activated, Catalytic Subunit)
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    TP53 mutation • ARID1A mutation • BCOR mutation • PRKDC mutation
    over4years
    CSF3R T618I, SETBP1 G870S, SRSF2 P95H, and ASXL1 Q780* tetramutation co-contribute to myeloblast transformation in a chronic neutrophilic leukemia. (PubMed, Ann Hematol)
    The patient did not use a JAK-STAT pathway inhibitor (ruxolitinib) but started on hydroxyurea and alpha-interferon and developed pruritus after 4 months of diagnosis and nasal hemorrhage 1 month later. We repeated NGS and found that three additional mutations were detected: ASXL1, PRKDC, MYOM2; variant allele frequency (VAF) of the prior mutations in CSF3R, SETBP1, and SRSF2 increased. The concurrence of CSF3RT618I, ASXL1, SETBP1, and SRSF2 mutation may be a mutationally detrimental combination and contribute to disease progression and AML transformation, as well as the nonspecific treatment of hydroxyurea and alpha-interferon, but the significance and role of PRKDC and MYOM2 mutations were not undetermined.
    Journal
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    NRAS (Neuroblastoma RAS viral oncogene homolog) • JAK2 (Janus kinase 2) • ASXL1 (ASXL Transcriptional Regulator 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • SRSF2 (Serine and arginine rich splicing factor 2) • CSF3R (Colony Stimulating Factor 3 Receptor) • U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1) • SETBP1 (SET Binding Protein 1) • CALR (Calreticulin) • PRKDC (Protein Kinase, DNA-Activated, Catalytic Subunit)
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    ASXL1 mutation • SRSF2 mutation • U2AF1 mutation • SETBP1 mutation • CSF3R T618I • SRSF2 P95H • PRKDC mutation
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    Jakafi (ruxolitinib) • hydroxyurea
    almost5years
    [VIRTUAL] Analysis of DNA damage repair gene alterations and their association with tumor mutation burden in 1427 hepatocellular carcinoma patients (AACR 2021)
    This is the largest study to clarify the landscape of DDR gene mutations in hepatocellular carcinoma. This study confirms that mutations in DDR genes are relatively common and are correlated with higher tumor mutation burden. This also indicates not all DDR genes are equal since mutations of certain individual genes were associated with higher TMB whereas others were not; further studies are needed to confirm this.
    Clinical • Tumor Mutational Burden • BRCA Biomarker • PARP Biomarker • IO biomarker
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    TMB (Tumor Mutational Burden) • 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) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • ERCC1 (Excision repair cross-complementation group 1) • PMS2 (PMS1 protein homolog 2) • CHEK2 (Checkpoint kinase 2) • RAD51 (RAD51 Homolog A) • FANCA (FA Complementation Group A) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • POLD1 (DNA Polymerase Delta 1) • RAD50 (RAD50 Double Strand Break Repair Protein) • CHEK1 (Checkpoint kinase 1) • BARD1 (BRCA1 Associated RING Domain 1) • MRE11A (MRE11 homolog, double strand break repair nuclease) • FANCF (FA complementation group F) • FANCL (FA Complementation Group L) • MUTYH (MutY homolog) • FANCD2 (FA Complementation Group D2) • FANCG (FA Complementation Group G) • PRKDC (Protein Kinase, DNA-Activated, Catalytic Subunit) • FANCC (FA Complementation Group C)
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    TMB-H • FANCA mutation • RAD50 mutation • BLM mutation • FANCF mutation • FANCG mutation • PRKDC mutation • RAD51 mutation • CHEK1 expression