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    BIOMARKER:

    CDKN2A deletion + MTAP deletion

    i
    Other names: CDKN2A, ARF, CDK4I, CDKN2, CMM2, INK4, INK4a, MLM, MTS1, p14, p14ARF, p16, p16INK4a, p19, p19Arf, Cyclin-dependent kinase inhibitor 2A, MTAP, Methylthioadenosine Phosphorylase, S-Methyl-5'-Thioadenosine Phosphorylase, MSAP, 5’-Methylthioadenosine Phosphorylase, MTA Phosphorylase, MTAPase, C86fus, Epididymis Secretory Sperm Binding Protein, Epididymis Luminal Protein 249, MeSAdo Phosphorylase, HEL-249, DMSMFH, DMSFH, LGMBF, BDMF
    Entrez ID:
    1029; 4507
    Related biomarkers:
    Expression
    Mutation
    CNA
    Others
    2ms
    MTAP protein status is highly concordant with CDKN2A fluorescent in situ hybridization and allows stratification of the luminal subtype in muscle-invasive bladder cancer. (PubMed, Histopathology)
    Our findings highlight CDKN2A HD and MTAP loss as prevalent genetic alterations in MIBC and mUC, particularly within the luminal-URO subtype and FGFR3-mutated, p53-normal/wildtype tumours. MTAP IHC can serve as a surrogate marker for 9p21.3 HD, highlighting its clinical relevance and potential as a therapeutic target and predictive biomarker in MIBC.
    Journal • Discordant
    |
    TP53 (Tumor protein P53) • FGFR3 (Fibroblast growth factor receptor 3) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • MTAP (Methylthioadenosine Phosphorylase)
    |
    TP53 mutation • TP53 wild-type • FGFR3 mutation • CDKN2A deletion • CDKN2A deletion + MTAP deletion
    over4years
    [VIRTUAL] In search of novel Synthetic Lethality (SL) anti-cancer drug targets: MTAP Genomic Alterations (GA) in human malignancies (ESMO 2020)
    Legal entity responsible for the study: Foundation Medicine Inc. Funding: Foundation Medicine Inc.
    Tumor mutational burden • PD(L)-1 Biomarker • PARP Biomarker • MSi-H Biomarker • BRCA Biomarker • IO biomarker
    |
    EGFR (Epidermal growth factor receptor) • HER-2 (Human epidermal growth factor receptor 2) • PD-L1 (Programmed death ligand 1) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • PTEN (Phosphatase and tensin homolog) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • ARID1A (AT-rich interaction domain 1A) • CCND1 (Cyclin D1) • MTAP (Methylthioadenosine Phosphorylase) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • SMAD4 (SMAD family member 4) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • BRCA (Breast cancer early onset) • PRMT5 (Protein Arginine Methyltransferase 5)
    |
    PD-L1 expression • TMB-H • MSI-H/dMMR • PD-L1 overexpression • KRAS G12C • HER-2 amplification • CDKN2A deletion • KRAS G12 • HER-2 amplification + PD-L1 expression • BRAF amplification • CDKN2A deletion + MTAP deletion
    |
    FoundationOne® CDx • PD-L1 IHC 22C3 pharmDx