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    BIOMARKER:

    PBRM1 mutation + SETD2 mutation

    i
    Other names: SETD2, SET Domain Containing 2, Histone Lysine Methyltransferase, HIF-1, KMT3A, HYPB, Histone-Lysine N-Methyltransferase SETD2, Protein-Lysine N-Methyltransferase SETD2, Huntingtin-Interacting Protein B, Lysine N-Methyltransferase 3A, Huntingtin Yeast Partner B, SET Domain Containing 2, KIAA1732, P231HBP, HIP-1, SET2, Huntingtin Interacting Protein 1, Huntingtin-Interacting Protein 1, SET Domain-Containing Protein 2, FLJ23184, HSPC069, HBP231, SETD2, HSET2, HIF1, LLS, PBRM1, Polybromo 1, BAF180
    Entrez ID:
    55193; 29072
    Related biomarkers:
    Expression
    Mutation
    CNA
    Fusion
    Others
    over1year
    Molecular portraits of clear cell ovarian and endometrial carcinoma with comparison to clear cell renal cell carcinoma. (PubMed, Gynecol Oncol)
    Gynecologic and renal CCC demonstrate separate and disparate somatic profiles. However, OCCC and ECCC are diseases with similar profiles. TMB and MSI analyses indicate that a subset of OCCC may benefit from immunotherapy. Prospective clinical trials are needed and are underway to examine targeted therapies in these gynecologic disease subtypes.
    Journal • Tumor Mutational Burden • MSi-H Biomarker • IO biomarker
    |
    TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • PTEN (Phosphatase and tensin homolog) • ARID1A (AT-rich interaction domain 1A) • PBRM1 (Polybromo 1) • VHL (von Hippel-Lindau tumor suppressor) • SETD2 (SET Domain Containing 2, Histone Lysine Methyltransferase) • KDM5C (Lysine Demethylase 5C)
    |
    TP53 mutation • MSI-H/dMMR • PTEN mutation • ARID1A mutation • PBRM1 mutation • VHL mutation • SETD2 mutation • PBRM1 mutation + SETD2 mutation
    over2years
    T and NK cell abundance defines two distinct subgroups of renal cell carcinoma. (PubMed, Oncoimmunology)
    Genomic analysis confirmed the typical ccRCC mutation profile including VHL, PBRM1, and SETD2 mutations, and revealed PBRM1 as a uniquely mutated gene in the CD3 subgroup. Approximately half of the RCC tumors have a high infiltration of NK cells associated with a lower number of tumor infiltrating lymphocytes, lower PD-1 expression, a distinct transcriptomic and mutation profile, providing insights to the immunological heterogeneity of RCC which may impact treatment responses to immunological therapies.
    Journal • PD(L)-1 Biomarker • IO biomarker
    |
    CD8 (cluster of differentiation 8) • PD-1 (Programmed cell death 1) • PBRM1 (Polybromo 1) • IFNG (Interferon, gamma) • LAG3 (Lymphocyte Activating 3) • TNFA (Tumor Necrosis Factor-Alpha) • SETD2 (SET Domain Containing 2, Histone Lysine Methyltransferase)
    |
    PBRM1 mutation • VHL mutation • PD-1 expression • CD8 expression • LAG3 expression • SETD2 mutation • PBRM1 mutation + SETD2 mutation
    over3years
    Genomic characterization of clear cell renal cell carcinoma using targeted gene sequencing. (PubMed, Oncol Lett)
    Overall, the present study provided data confirming gene alteration in Taiwanese patients with ccRCC and showed some differences when compared with Western countries. Further comprehensive genomic and epigenomic studies, as well as downstream validation, are necessary to evaluate the impact of these differences.
    Journal • BRCA Biomarker
    |
    TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • PTEN (Phosphatase and tensin homolog) • PBRM1 (Polybromo 1) • BAP1 (BRCA1 Associated Protein 1) • KMT2C (Lysine Methyltransferase 2C) • SETD2 (SET Domain Containing 2, Histone Lysine Methyltransferase) • KDM5C (Lysine Demethylase 5C)
    |
    PTEN mutation • PBRM1 mutation • BAP1 mutation • SETD2 mutation • PBRM1 mutation + SETD2 mutation