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    BIOMARKER:

    TERT mutation + TP53 mutation

    i
    Other names: TERT, Telomerase Reverse Transcriptase, Telomerase-Associated Protein 2, Telomerase Catalytic Subunit, HEST2, EST2, TCS1, TP2, TRT, PFBMFT1, DKCA2, DKCB4, CMM9, HTR, TP53, Tumor Protein P53, Cellular Tumor Antigen P53, Phosphoprotein P53, Tumor Protein P53, Antigen NY-CO-13, Transformation-Related Protein 53, Mutant Tumor Protein 53, P53 Tumor Suppressor, Tumor Suppressor P53, Tumor Protein 53, BMFS5, TRP53, BCC7, LFS1
    Entrez ID:
    7157; 7015
    Related biomarkers:
    Expression
    Mutation
    CNA
    Fusion
    Others
    7ms
    Anaplastic thyroid cancer:Improved understanding of what remains a deadly disease. (PubMed, Surgeon)
    The prognosis of ATC remains dismal. Recent development and approval of targeted therapies offers hope of improved oncologic outcomes with further data eagerly awaited surrounding the impact of these targeted therapies.
    Review • Journal
    |
    TP53 (Tumor protein P53) • PTEN (Phosphatase and tensin homolog) • TERT (Telomerase Reverse Transcriptase) • PI3K (Phosphoinositide 3-kinases)
    |
    TP53 mutation • BRAF mutation • PTEN mutation • TERT mutation • TERT mutation + TP53 mutation
    |
    Mekinist (trametinib) • Tafinlar (dabrafenib)
    1year
    Follicular thyroid cancer harboring TERT and TP53 mutations: A case report. (PubMed, Asian J Surg)
    No abstract available
    Journal
    |
    TP53 (Tumor protein P53) • TERT (Telomerase Reverse Transcriptase)
    |
    TP53 mutation • TERT mutation • TERT mutation + TP53 mutation
    1year
    Distinct IDH1/2-associated Methylation Profile and Enrichment of TP53 and TERT Mutations Distinguish Dedifferentiated Chondrosarcoma from Conventional Chondrosarcoma. (PubMed, Cancer Res Commun)
    We uncover a significant alteration of IDH-associated methylation profile in DDCS, which we propose is key to the progression to dedifferentiation. In this context, the potential effect of the use of IDH inhibitors is unclear but important to address, as clinical trials of selective IDH1 inhibitors showed worse outcome in DDCS.
    Journal
    |
    TP53 (Tumor protein P53) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • TERT (Telomerase Reverse Transcriptase) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B)
    |
    TP53 mutation • IDH2 mutation • CDKN2A mutation • TERT mutation • TERT promoter mutation • TERT mutation + TP53 mutation
    over1year
    Reversal of Idh-dependent Global Hypermethylation and Enrichment of TP53 and TERT Mutations Distinguish Dedifferentiated Chondrosarcoma from Conventional Chondrosarcoma on Integrated Genomic Profiling (AMP 2022)
    Genomic profiling revealed enrichment of TP53, TERT promoter, and CDKN2A/CDKN2B alterations in DDCS. Integrated methylation and gene expression analysis revealed reversal of IDH1/2-dependent global hypermethylation as an early event in DDCS, underpinning an important role in the pathogenesis of dedifferentiation in chondrosarcomas.
    Clinical • Tumor mutational burden
    |
    TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • TERT (Telomerase Reverse Transcriptase) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B)
    |
    TP53 mutation • IDH2 mutation • CDKN2A mutation • TERT mutation • TERT promoter mutation • TERT mutation + TP53 mutation
    |
    MSK-IMPACT