Gene Variant Detail

Gene NOTCH1
Variant mutant
Impact List unknown
Protein Effect unknown
Gene Variant Descriptions NOTCH1 mutant indicates and unspecified mutation in the NOTCH1 gene.
Associated Drug Resistance

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No Variant Reference Transcript is Available.
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Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

Sorting

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

Molecular Profile Protein Effect Treatment Approaches
NOTCH1 mutant unknown
NOTCH1 mut RB1 wild-type
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
NOTCH1 mutant mantle cell lymphoma predicted - resistant Ibrutinib + Venetoclax Phase II Actionable In a Phase II trial (AIM), distinct molecular profiles were identified in mantle cell lymphoma patients responded to Imbruvica (ibrutinib) and Venclexta (venetoclax) combination therapy compared to those did not respond, with all patients harboring mutations in NSD2 (n=4), UBR5 (n=3), KMT2D (n=3), and 12 of 13 patients harboring mutations in ATM responded to the therapy, while SMARCA4 (n=4), CCND1 (n=2), and NOTCH1 (n=3) alterations were exclusively observed in nonresponders (PMID: 30455436; NCT02471391). 30455436
NOTCH1 mutant triple-receptor negative breast cancer sensitive PF-03084014 Preclinical - Pdx Actionable In a preclinical study, PF-03084014 treatment resulted in tumor regression in patient-derived xenograft models of triple receptor negative breast cancer harboring NOTCH1 mutations (PMID: 25564152). 25564152
NOTCH1 mut RB1 wild-type T-cell adult acute lymphocytic leukemia sensitive JQ1 + Ribociclib Preclinical - Cell culture Actionable In a preclinical study, the combination of Kisqali (ribociclib) and JQ1 resulted in an additive effect in a T-cell acute lymphoblastic leukemia cell line harboring wild-type RB1 and a NOTCH1 mutation in culture (PMID: 28151717). 28151717
NOTCH1 mut RB1 wild-type T-cell adult acute lymphocytic leukemia decreased response Asparaginase + Ribociclib Preclinical - Cell culture Actionable In a preclinical study, the addition of Kisqali (ribociclib) to Elspar (asparaginase) resulted in an antagonistic effect in a T-cell acute lymphoblastic leukemia cell line harboring wild-type RB1 and a NOTCH1 mutation in culture (PMID: 28151717). 28151717
NOTCH1 mut RB1 wild-type T-cell adult acute lymphocytic leukemia decreased response Mercaptopurine + Ribociclib Preclinical - Cell culture Actionable In a preclinical study, the addition of Kisqali (ribociclib) to Purixan (mercaptopurine) resulted in an antagonistic effect in a T-cell acute lymphoblastic leukemia cell line harboring wild-type RB1 and a NOTCH1 mutation in culture (PMID: 28151717). 28151717
NOTCH1 mut RB1 wild-type T-cell adult acute lymphocytic leukemia sensitive Dexamethasone + Ribociclib Preclinical - Cell line xenograft Actionable In a preclinical study, the combination of Kisqali (ribociclib) and Adexone (dexamethasone) treatment in a T-cell acute lymphoblastic leukemia cell line harboring wild-type RB1 and a NOTCH1 mutation resulted in decreased cell viability and reduced phosphorylation of Rb1 in culture, and a greater survival benefit in xenograft models when compared to Kisqali (ribociclib) alone (PMID: 28151717). 28151717
NOTCH1 mut RB1 wild-type T-cell adult acute lymphocytic leukemia sensitive Prednisolone + Ribociclib Preclinical - Cell culture Actionable In a preclinical study, the combination of Kisqali (ribociclib) and Omnipred (prednisolone) resulted in a synergistic effect in a T-cell acute lymphoblastic leukemia cell line harboring wild-type RB1 and a NOTCH1 mutation in culture (PMID: 28151717). 28151717
NOTCH1 mut RB1 wild-type T-cell adult acute lymphocytic leukemia sensitive Ribociclib Preclinical - Cell culture Actionable In a preclinical study, a T-cell acute lymphoblastic leukemia cell line co-harboring wild-type RB1 and a NOTCH1 mutation demonstrated sensitivity to treatment with Kisqali (ribociclib) in culture, resulting in inhibition of cell growth (PMID: 28151717). 28151717
NOTCH1 mut RB1 wild-type T-cell adult acute lymphocytic leukemia sensitive Everolimus + Ribociclib Preclinical - Cell culture Actionable In a preclinical study, the combination of Kisqali (ribociclib) and Afinitor (everolimus) treatment in a T-cell acute lymphoblastic leukemia cell line harboring wild-type RB1 and a NOTCH1 mutation resulted in decreased Rb1 phosphorylation and a greater inhibition of cell growth compared to either agent alone in culture (PMID: 28151717). 28151717
NOTCH1 mut RB1 wild-type T-cell adult acute lymphocytic leukemia decreased response Methotrexate + Ribociclib Preclinical - Cell culture Actionable In a preclinical study, the addition of Kisqali (ribociclib) to Methotrexate resulted in an antagonistic effect in a T-cell acute lymphoblastic leukemia cell line harboring wild-type RB1 and a NOTCH1 mutation in culture (PMID: 28151717). 28151717
NOTCH1 mut RB1 wild-type T-cell adult acute lymphocytic leukemia sensitive Bortezomib + Ribociclib Preclinical - Cell culture Actionable In a preclinical study, the combination of Kisqali (ribociclib) and Velcade (bortezomib) resulted in an additive effect in a T-cell acute lymphoblastic leukemia cell line harboring wild-type RB1 and a NOTCH1 mutation in culture (PMID: 28151717). 28151717