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|Protein Effect||gain of function|
|Gene Variant Descriptions||NOTCH1 act mut indicates that this variant results in a gain of function in the Notch1 protein. However the specific amino acid change has not been identified.|
|Associated Drug Resistance|
|Molecular Profile||Indication/Tumor Type||Response Type||Therapy Name||Approval Status||Evidence Type||Efficacy Evidence||References|
|NOTCH1 act mut||acute lymphoblastic leukemia||sensitive||Brontictuzumab||Preclinical - Pdx||Actionable||In a preclinical study, xenograft models of patient-derived acute lymphocytic leukemia cells harboring NOTCH1 activating muatations demonstrated better response to Brontictuzumab (OMP-52M51) compared to NOTCH1 wild-type models (PMID: 23774673).||23774673|
|NOTCH1 act mut||colorectal cancer||sensitive||PF-03084014||Preclinical - Cell culture||Actionable||In a preclinical study, the gamma secretase inhibitor PF-03084014 reduced Notch1 cleavage, decreased activation of Notch targets, and increased apoptosis in colorectal cancer cell lines exhibiting increased Notch activation (PMID: 23868008).||23868008|
|NOTCH1 act mut||breast cancer||sensitive||Brontictuzumab||Preclinical - Pdx||Actionable||In a preclinical study, Brontictuzumab (OMP-52M51) inhibited tumor growth and reduced cancer stem cells in xenograft models of tumor derived from a breast cancer patient harboring activating NOTCH1 mutations (Cancer Res 2013;73(8 Suppl):Abstract nr 3728).||detail...|
|NOTCH1 act mut||T-cell adult acute lymphocytic leukemia||predicted - sensitive||Dexamethasone + Ribociclib||Preclinical - Pdx||Actionable||In a preclinical study, the combination of Kisqali (ribociclib) and Adexone (dexamethasone) resulted in reduced leukemia burden and a greater survival benefit in a NOTCH1 activated T-cell acute lymphoblastic leukemia patient derived xenograft (PDX) model when compared to control or either agent alone (PMID: 28151717).||28151717|