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Gene CTNNB1
Variant act mut
Impact List unknown
Protein Effect gain of function
Gene Variant Descriptions CTNNB1 act mut indicates that this variant results in a gain of function in the Ctnnb1 protein. However, the specific amino acid change has not been identified.
Associated Drug Resistance
Category Variants Paths

CTNNB1 mutant CTNNB1 act mut

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No Variant Reference Transcript is Available.
No transcript is Available.

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. 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 on a longer phrase with spaces (i.e. "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.
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
CTNNB1 act mut lung non-small cell carcinoma predicted - resistant Osimertinib Case Reports/Case Series Actionable In a retrospective analysis, activating CTNNB1 mutations including S37F/C (n=5), D32V (n=1), G34V (n=1), and T41I (n=1) were identified in 8 of 100 patients with non-small cell lung cancer at treatment discontinuation of Tagrisso (osimertinib) (PMID: 31839416). 31839416
CTNNB1 act mut desmoid tumor sensitive Imatinib Clinical Study - Cohort Actionable In a retrospective analysis, patients with desmoid fibromatosis harboring CTNNB1 activating exon 3 mutations demonstrated a greater progression arrest rate at 6 months compared to patients with CTNNB1 wild-type tumor when treated with Gleevec (imatinib) (PMID: 26861905). 26861905
CTNNB1 act mut hepatocellular carcinoma decreased response unspecified PD-1 antibody Clinical Study - Cohort Actionable n a clinical study, treatment with immune checkpoint antibodies, including anti-PD-1, anti-PD-L1, or anti-CTLA-4 monotherapy or combinations of anti-PD-1 with anti-CTLA-4, anti-LAG3, or anti-KIR, was less effective in hepatocellular carcinoma patients with Wnt pathway mutations in CTNNB1 or AXIN1 compared to patients without Wnt pathway mutations, with 0% (0/10) vs. 53% (9/17) achieving disease control, respectively, and shorter progression-free survival (2.0 mo vs. 7.4 mo) (PMID: 30373752; NCT01775072). 30373752
CTNNB1 act mut hepatocellular carcinoma decreased response unspecified PD-L1 antibody Clinical Study - Cohort Actionable In a clinical study, treatment with immune checkpoint antibodies, including anti-PD-1, anti-PD-L1, or anti-CTLA-4 monotherapy or combinations of anti-PD-1 with anti-CTLA-4, anti-LAG3, or anti-KIR, was less effective in hepatocellular carcinoma patients with Wnt pathway mutations in CTNNB1 or AXIN1 compared to patients without Wnt pathway mutations, with 0% (0/10) vs. 53% (9/17) achieving disease control, respectively, and shorter progression-free survival (2.0 mo vs. 7.4 mo) (PMID: 30373752; NCT01775072). 30373752
CTNNB1 act mut hepatocellular carcinoma decreased response unspecified CTLA4 antibody Clinical Study - Cohort Actionable In a clinical study, treatment with immune checkpoint antibodies, including anti-PD-1, anti-PD-L1, or anti-CTLA-4 monotherapy or combinations of anti-PD-1 with anti-CTLA-4, anti-LAG3, or anti-KIR, was less effective in hepatocellular carcinoma patients with Wnt pathway mutations in CTNNB1 or AXIN1 compared to patients without Wnt pathway mutations, with 0% (0/10) vs. 53% (9/17) achieving disease control, respectively, and shorter progression-free survival (2.0 mo vs. 7.4 mo) (PMID: 30373752; NCT01775072). 30373752
CTNNB1 act mut hepatocellular carcinoma decreased response unspecified CTLA4 antibody + unspecified PD-1 antibody Clinical Study - Cohort Actionable In a clinical study, treatment with immune checkpoint antibodies, including anti-PD-1, anti-PD-L1, or anti-CTLA-4 monotherapy or combinations of anti-PD-1 with anti-CTLA-4, anti-LAG3, or anti-KIR, was less effective in hepatocellular carcinoma patients with Wnt pathway mutations in CTNNB1 or AXIN1 compared to patients without Wnt pathway mutations, with 0% (0/10) vs. 53% (9/17) achieving disease control, respectively, and shorter progression-free survival (2.0 mo vs. 7.4 mo) (PMID: 30373752; NCT01775072). 30373752
CTNNB1 act mut Advanced Solid Tumor predicted - sensitive CC-91516 Preclinical - Patient cell culture Actionable In a preclinical study, CC-91516 treatment induced apoptosis and inhibited viability of cancer cells harboring CTNNB1 activating mutations, and inhibited ex vivo colony formation from patient-derived xenograft (PDX) models in culture (Cancer Res 2022;82(12_Suppl):Abstract nr 1180). detail...
CTNNB1 act mut hepatocellular carcinoma sensitive WNTinib Preclinical Actionable In a preclinical study, WNTinib increased survival in a mouse model of CTNNB1-driven hepatocellular carcinoma (PMID: 37537299). 37537299