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      Activating mutations of NOTCH1 in human T cell acute lymphoblastic leukemia.

      Science (New York, N.Y.)

      Adolescent, Alleles, Amino Acid Sequence, Amyloid Precursor Protein Secretases, Aspartic Acid Endopeptidases, Cell Cycle, Cell Line, Tumor, Child, Dimerization, Endopeptidases, metabolism, Frameshift Mutation, Humans, Leukemia-Lymphoma, Adult T-Cell, genetics, Molecular Sequence Data, Mutation, Mutation, Missense, Point Mutation, Protease Inhibitors, pharmacology, Protein Structure, Tertiary, Receptor, Notch1, Receptors, Cell Surface, chemistry, Sequence Deletion, Signal Transduction, Transcription Factors

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          Abstract

          Very rare cases of human T cell acute lymphoblastic leukemia (T-ALL) harbor chromosomal translocations that involve NOTCH1, a gene encoding a transmembrane receptor that regulates normal T cell development. Here, we report that more than 50% of human T-ALLs, including tumors from all major molecular oncogenic subtypes, have activating mutations that involve the extracellular heterodimerization domain and/or the C-terminal PEST domain of NOTCH1. These findings greatly expand the role of activated NOTCH1 in the molecular pathogenesis of human T-ALL and provide a strong rationale for targeted therapies that interfere with NOTCH signaling.

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          Journal
          15472075
          10.1126/science.1102160

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