CTNNB1 S37F: Gene Variant Detail - Cancer Knowledgebase (CKB)

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Gene	CTNNB1
Variant	S37F
Impact List	missense
Protein Effect	gain of function
Gene Variant Descriptions	CTNNB1 S37F lies within the ubiquitination recognition motif of the Ctnnb1 protein and occurs at a Gsk3b phosphorylation site on the Ctnnb1 protein (PMID: 10347231). S37F confers a gain of function to the Ctnnb1 protein as demonstrated by nuclear accumulation of Ctnnb1 (PMID: 11196159, PMID: 11943721), increased activity in a reporter assay (PMID: 31857074), and increased cell invasion and migration in the context of an EGFR activating mutation (PMID: 29106415).
Associated Drug Resistance
Category Variants Paths	CTNNB1 mutant CTNNB1 act mut CTNNB1 S37F

Variant Reference Transcript
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Transcript	NM_001098210.2
gDNA	chr3:g.41224622C>T
cDNA	c.110C>T
Protein	p.S37F
Source Database	RefSeq
Genome Build	GRCh38/hg38

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Showing 1 to 26 of 26 entries

Transcript	gDNA	cDNA	Protein	Source Database	Genome Build
NM_001098209	chr3:g.41224622C>T	c.110C>T	p.S37F	RefSeq	GRCh38/hg38
NM_001098209.1	chr3:g.41224622C>T	c.110C>T	p.S37F	RefSeq	GRCh38/hg38
NM_001098209.2	chr3:g.41224622C>T	c.110C>T	p.S37F	RefSeq	GRCh38/hg38
NM_001098210	chr3:g.41224622C>T	c.110C>T	p.S37F	RefSeq	GRCh38/hg38
NM_001098210.1	chr3:g.41224622C>T	c.110C>T	p.S37F	RefSeq	GRCh38/hg38
NM_001098210.2	chr3:g.41224622C>T	c.110C>T	p.S37F	RefSeq	GRCh38/hg38
NM_001904	chr3:g.41224622C>T	c.110C>T	p.S37F	RefSeq	GRCh38/hg38
NM_001904.3	chr3:g.41224622C>T	c.110C>T	p.S37F	RefSeq	GRCh38/hg38
NM_001904.4	chr3:g.41224622C>T	c.110C>T	p.S37F	RefSeq	GRCh38/hg38
XM_005264886	chr3:g.41224622C>T	c.110C>T	p.S37F	RefSeq	GRCh38/hg38
XM_006712985	chr3:g.41224622C>T	c.110C>T	p.S37F	RefSeq	GRCh38/hg38
XM_006712985.1	chr3:g.41224622C>T	c.110C>T	p.S37F	RefSeq	GRCh38/hg38
XM_006712985.2	chr3:g.41224622C>T	c.110C>T	p.S37F	RefSeq	GRCh38/hg38
XM_017005738	chr3:g.41224622C>T	c.110C>T	p.S37F	RefSeq	GRCh38/hg38
XM_017005738.1	chr3:g.41224622C>T	c.110C>T	p.S37F	RefSeq	GRCh38/hg38
XM_017005738.2	chr3:g.41224622C>T	c.110C>T	p.S37F	RefSeq	GRCh38/hg38
XM_024453356.1	chr3:g.41224622C>T	c.110C>T	p.S37F	RefSeq	GRCh38/hg38
XM_024453356.2	chr3:g.41224622C>T	c.110C>T	p.S37F	RefSeq	GRCh38/hg38
XM_024453357.1	chr3:g.41224622C>T	c.110C>T	p.S37F	RefSeq	GRCh38/hg38
XM_024453358.1	chr3:g.41224622C>T	c.110C>T	p.S37F	RefSeq	GRCh38/hg38
XM_047447477.1	chr3:g.41224622C>T	c.110C>T	p.S37F	RefSeq	GRCh38/hg38
XM_047447478.1	chr3:g.41224622C>T	c.110C>T	p.S37F	RefSeq	GRCh38/hg38
XM_047447479.1	chr3:g.41224622C>T	c.110C>T	p.S37F	RefSeq	GRCh38/hg38
XM_047447480.1	chr3:g.41224622C>T	c.110C>T	p.S37F	RefSeq	GRCh38/hg38
XM_047447481.1	chr3:g.41224622C>T	c.110C>T	p.S37F	RefSeq	GRCh38/hg38
XM_047447483.1	chr3:g.41224622C>T	c.110C>T	p.S37F	RefSeq	GRCh38/hg38

Showing 1 to 26 of 26 entries

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Molecular Profile	Indication/Tumor Type	Response Type	Therapy Name	Approval Status	Evidence Type	Efficacy Evidence	References
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	desmoid tumor	not applicable	N/A	Guideline	Diagnostic	CTNNB1 mutations aid the diagnosis of desmoid tumor (NCCN.org).	detail...
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 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	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	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 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	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 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 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 mutant	hepatocellular carcinoma	predicted - sensitive	WNTinib	Preclinical - Cell culture	Actionable	In a preclinical study, WNTinib inhibited Ezh2 phosphorylation and viability in a hepatocellular carcinoma cell line harboring a deletion of CTNNB1 exons in culture (PMID: 37537299).	37537299
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
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	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

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CTNNB1 S37F - Gene Variant Detail

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