Gene Variant Detail

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Gene CTNNB1
Variant D32H
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions CTNNB1 D32H lies within the ubiquitination recognition motif of the Ctnnb1 protein (PMID: 15064718). D32H is predicted to confer a gain of function on the Ctnnb1 protein as demonstrated by nuclear accumulation of Ctnnb1 (PMID: 17163846).
Associated Drug Resistance

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Transcript NM_001098210.1
gDNA chr3:g.41224606G>C
cDNA c.94G>C
Protein p.D32H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001904.3 chr3:g.41224606G>C c.94G>C p.D32H RefSeq GRCh38/hg38
NM_001098210 chr3:g.41224606G>C c.94G>C p.D32H RefSeq GRCh38/hg38
NM_001904 chr3:g.41224606G>C c.94G>C p.D32H RefSeq GRCh38/hg38
XM_017005738 chr3:g.41224606G>C c.94G>C p.D32H RefSeq GRCh38/hg38
XM_006712985 chr3:g.41224606G>C c.94G>C p.D32H RefSeq GRCh38/hg38
NM_001098209.1 chr3:g.41224606G>C c.94G>C p.D32H RefSeq GRCh38/hg38
XM_024453357.1 chr3:g.41224606G>C c.94G>C p.D32H RefSeq GRCh38/hg38
XM_006712985.1 chr3:g.41224606G>C c.94G>C p.D32H RefSeq GRCh38/hg38
XM_017005738.1 chr3:g.41224606G>C c.94G>C p.D32H RefSeq GRCh38/hg38
XM_024453358.1 chr3:g.41224606G>C c.94G>C p.D32H RefSeq GRCh38/hg38
XM_005264886 chr3:g.41224606G>C c.94G>C p.D32H RefSeq GRCh38/hg38
NM_001098209 chr3:g.41224606G>C c.94G>C p.D32H RefSeq GRCh38/hg38
XM_024453356.1 chr3:g.41224606G>C c.94G>C p.D32H RefSeq GRCh38/hg38
NM_001098210.1 chr3:g.41224606G>C c.94G>C p.D32H 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-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 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-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 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 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
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 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 medulloblastoma not applicable N/A Guideline Prognostic WNT-driven medulloblastomas, characterized by CTNNB1 or APC mutations, are associated with favorable prognosis (NCCN.org). detail...
Molecular Profile Protein Effect Treatment Approaches
CTNNB1 D32H gain of function - predicted CTNNB1 Inhibitor PDPK1 Inhibitor Tankyrase Inhibitor