Gene Variant Detail

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Gene CTNNB1
Variant P44L
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions CTNNB1 P44L does not lie within any known functional domains of the Ctnnb1 protein (UniProt.org). P44L confers a gain of function to Ctnnb1 as it results in decreased serine phosphorylation of Ctnnb1 in cell culture and increased transcriptional activity in a reporter assay compared to wild-type Ctnnb1 (PMID: 31970420).
Associated Drug Resistance

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Transcript NM_001098210.1
gDNA chr3:g.41224643C>T
cDNA c.131C>T
Protein p.P44L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_024453358.1 chr3:g.41224643C>T c.131C>T p.P44L RefSeq GRCh38/hg38
XM_006712985.1 chr3:g.41224643C>T c.131C>T p.P44L RefSeq GRCh38/hg38
NM_001098210 chr3:g.41224643C>T c.131C>T p.P44L RefSeq GRCh38/hg38
XM_017005738 chr3:g.41224643C>T c.131C>T p.P44L RefSeq GRCh38/hg38
NM_001098209 chr3:g.41224643C>T c.131C>T p.P44L RefSeq GRCh38/hg38
XM_024453357.1 chr3:g.41224643C>T c.131C>T p.P44L RefSeq GRCh38/hg38
NM_001904 chr3:g.41224643C>T c.131C>T p.P44L RefSeq GRCh38/hg38
NM_001904.3 chr3:g.41224643C>T c.131C>T p.P44L RefSeq GRCh38/hg38
XM_024453356.1 chr3:g.41224643C>T c.131C>T p.P44L RefSeq GRCh38/hg38
XM_017005738.1 chr3:g.41224643C>T c.131C>T p.P44L RefSeq GRCh38/hg38
XM_006712985 chr3:g.41224643C>T c.131C>T p.P44L RefSeq GRCh38/hg38
XM_005264886 chr3:g.41224643C>T c.131C>T p.P44L RefSeq GRCh38/hg38
NM_001098209.1 chr3:g.41224643C>T c.131C>T p.P44L RefSeq GRCh38/hg38
NM_001098210.1 chr3:g.41224643C>T c.131C>T p.P44L RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
CTNNB1 act mut hepatocellular carcinoma decreased response 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 patients with Wnt pathway mutations in CTNNB1 or AXIN1 compared to patients without mutations in this pathway, with 0% (0/10) vs. 53% (9/17) achieving disease control, respectively, and shorter progression-free survival (2.0 months vs. 7.4 months) (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 patients with Wnt pathway mutations in CTNNB1 or AXIN1 compared to patients without mutations in this pathway, with 0% (0/10) vs. 53% (9/17) achieving disease control, respectively, and shorter progression-free survival (2.0 months vs. 7.4 months) (PMID: 30373752; NCT01775072). 30373752
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 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 patients with Wnt pathway mutations in CTNNB1 or AXIN1 compared to patients without mutations in this pathway, with 0% (0/10) vs. 53% (9/17) achieving disease control, respectively, and shorter progression-free survival (2.0 months vs. 7.4 months) (PMID: 30373752; NCT01775072). 30373752
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 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 patients with Wnt pathway mutations in CTNNB1 or AXIN1 compared to patients without mutations in this pathway, with 0% (0/10) vs. 53% (9/17) achieving disease control, respectively, and shorter progression-free survival (2.0 months vs. 7.4 months) (PMID: 30373752; NCT01775072). 30373752
CTNNB1 mutant medulloblastoma not applicable N/A Guideline Prognostic WNT-driven medulloblastomas, characterized by CTNNB1 or APC mutations, are associated with favorable prognosis (NCCN.org). detail...
CTNNB1 mutant endometrial cancer predicted - sensitive Cabozantinib Case Reports/Case Series Actionable In a Phase II (NCI9322/PHL86) trial, Cometriq (Cabometyx, cabozantinib) treatment resulted in a response rate of 40% (4/10) and a 12-week progression-free survival rate of 70% (7/10) in patients with endometrial cancer harboring CTNNB1 mutations, with a median PFS of 7.6 months (PMID: 31992589; NCT01935934). 31992589
CTNNB1 mutant desmoid tumor not applicable N/A Guideline Diagnostic CTNNB1 mutations aid the diagnosis of desmoid tumor (NCCN.org). detail...
CTNNB1 mutant hepatocellular carcinoma sensitive PMED-1 Preclinical Actionable In a preclinical study, PMED-1 decreased Wnt expression and decreased proliferation of hepatocellular carcinoma cells with Ctnnb1 mutations (PMID: 24819961). 24819961
CTNNB1 mutant endometrial cancer predicted - sensitive Temsirolimus Phase II Actionable In a retrospective study of a Phase II trial, Torisel (temsirolimus) treatment resulted in an increased progression-free survival (HR 0.46) but not response rate (response difference 0.00) in advanced endometrial cancer patients harboring CTNNB1 mutations (PMID: 27016228). 27016228
CTNNB1 mutant colorectal cancer sensitive BC21 Preclinical Actionable In a preclinical study, BC21 inhibited growth and viability of a colorectal cancer cell line with a CTNNB1 mutation and increased beta-catenin expression in culture (PMID: 22224445). 22224445
Molecular Profile Protein Effect Treatment Approaches
CTNNB1 P44L gain of function CTNNB1 Inhibitor PDPK1 Inhibitor Tankyrase Inhibitor