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    BIOMARKER:

    MDM4 mutation

    i
    Other names: MDM4, The mouse double minute 4, MDM4 Regulator Of P53, Mdm2-Like P53-Binding Protein, MDM4, P53 Regulator, Double Minute 4, Human Homolog Of; P53-Binding Protein, P53-Binding Protein Mdm4, Double Minute 4 Protein
    Entrez ID:
    4194
    Related biomarkers:
    Expression
    Mutation
    CNA
    over1year
    CLINICAL AND GENOMIC LANDSCAPE OF OVARIAN CLEAR CELL CARCINOMA (IGCS 2022)
    Our study revealed the correlation of the characteristics of somatic mutations in OCCC with its clinical outcomes, and identified high-frequency mutated genes related to prognosis, recurrence and platinum resistance, which provided important implications for future molecular diagnosis and targeted therapy for OCCC.
    Clinical
    |
    TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • ARID1A (AT-rich interaction domain 1A) • POLE (DNA Polymerase Epsilon) • CD8 (cluster of differentiation 8) • PDGFRB (Platelet Derived Growth Factor Receptor Beta) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • KMT2C (Lysine Methyltransferase 2C) • MUC16 (Mucin 16, Cell Surface Associated) • MDM4 (The mouse double minute 4) • CUL4A (Cullin 4A) • MECOM (MDS1 And EVI1 Complex Locus) • ARID2 (AT-Rich Interaction Domain 2) • CASP8 (Caspase 8) • DAXX (Death-domain associated protein) • LZTR1 (Leucine Zipper Like Transcription Regulator 1)
    |
    TP53 mutation • TMB-H • PIK3CA mutation • ARID1A mutation • POLE mutation • MDM4 mutation
    2years
    Differences in the Molecular Profile between Primary Breast Carcinomas and Their Cutaneous Metastases. (PubMed, Cancers (Basel))
    The TN molecular type has a greater risk of developing skin metastases. There are phenotypic changes and additional molecular alterations in skin metastases compared to the corresponding primary breast tumors in nearly half of the patients. Although these changes do not follow a specific pattern and varied from patient to patient, they could impact on the treatment. More studies with larger patient and sample cohorts are needed.
    Journal
    |
    TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • MDM4 (The mouse double minute 4)
    |
    TP53 mutation • PIK3CA mutation • MDM4 mutation
    2years
    Analysis of immune landscape in hepatocellular carcinoma patients with MDM2/4 mutations (AACR 2022)
    Analysis of immune cell infiltration revealed that almost all of these immune cells we detected were less infiltrated into tumor tissue of patients with MDM2/4 mutation than without MDM2/4 mutation. What’s more, the most significant difference between patients with and without MDM2/4 alteration was infiltration of CD56dim NK cells (p<0.001).Conclusion The poor response to ICI monotherapy may associated with the high proportion of alteration in gene MDM2/4, which was characterized by low infiltration of immune cells, especially effective NK cells.
    Clinical • IO biomarker
    |
    CD8 (cluster of differentiation 8) • MDM2 (E3 ubiquitin protein ligase) • MDM4 (The mouse double minute 4) • CD68 (CD68 Molecule)
    |
    MDM2 mutation • MDM4 mutation
    over2years
    Genomic evidence suggests that cutaneous neuroendocrine carcinomas can arise from squamous dysplastic precursors. (PubMed, Mod Pathol)
    The shift to neuroendocrine phenotype is associated with loss of Rb protein expression, decrease in global H3K27Me3, and increased expression of Merkel cell genes such as SOX2. Our findings suggest an epidermal origin of MCC in this setting, and to our knowledge provide the first molecular evidence that intraepithelial squamous dysplasia may represent a direct precursor for small cell carcinoma.
    Journal
    |
    TP53 (Tumor protein P53) • HRAS (Harvey rat sarcoma viral oncogene homolog) • RB1 (RB Transcriptional Corepressor 1) • HLA-A (Major Histocompatibility Complex, Class I, A) • FBXW7 (F-Box And WD Repeat Domain Containing 7) • MDM4 (The mouse double minute 4) • SOX2 • MYCL (MYCL Proto-Oncogene BHLH Transcription Factor)
    |
    TP53 mutation • RB1 mutation • HRAS mutation • FBXW7 mutation • MDM4 mutation
    almost3years
    Genomic and transcriptomic analyses of breast cancer primaries and matched metastases in AURORA, the Breast International Group (BIG) molecular screening initiative. (PubMed, Cancer Discov)
    ESCAT tier I/II alterations were detected in 51% of patients and matched therapy was used in 7%. Integration of multi-omics analyses in clinical practice could impact treatment strategies in MBC.
    Journal
    |
    HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • MYC (V-myc avian myelocytomatosis viral oncogene homolog) • PTEN (Phosphatase and tensin homolog) • RB1 (RB Transcriptional Corepressor 1) • ARID1A (AT-rich interaction domain 1A) • CDH1 (Cadherin 1) • MDM4 (The mouse double minute 4) • GATA1 (GATA Binding Protein 1)
    |
    TP53 mutation • TMB-H • HER-2 negative • PIK3CA mutation • PTEN mutation • ARID1A mutation • MYC amplification • RB1 mutation • ARID1A deletion • MDM4 amplification • MDM4 mutation