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    BIOMARKER:

    MAD1L1 mutation

    i
    Other names: MAD1L1, Mitotic Arrest Deficient 1 Like 1, TXBP181, MAD1, Mitotic Spindle Assembly Checkpoint Protein MAD1, Mitotic Arrest Deficient 1-Like Protein 1, Mitotic Checkpoint MAD1 Protein Homolog, MAD1 Mitotic Arrest Deficient Like 1, Tax-Binding Protein 181, MAD1-Like Protein 1, TP53I9, PIG9, MAD1 (Mitotic Arrest Deficient, Yeast, Homolog)-Like 1, Mitotic-Arrest Deficient 1, Yeast, Homolog-Like 1, MAD1 Mitotic Arrest Deficient-Like 1 (Yeast), Tumor Protein P53 Inducible Protein 9, HMAD1
    Entrez ID:
    8379
    Related biomarkers:
    Fusion
    Associations

    News

    Trials
    2years
    Biallelic germline mutations in MAD1L1 induce a syndrome of aneuploidy with high tumor susceptibility. (PubMed, Sci Adv)
    MAD1L1 mutations resulted in specific clonal expansions of γδ T cells with chromosome 18 gains and enhanced cytotoxic profile as well as intermediate B cells with chromosome 12 gains and transcriptomic signatures characteristic of leukemia cells. These data point to MAD1L1 mutations as the cause of a new variant of mosaic variegated aneuploidy with systemic inflammation and unprecedented tumor susceptibility.
    Journal
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    MAD1L1 (Mitotic Arrest Deficient 1 Like 1)
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    MAD1L1 mutation