CTNNB1 T41A: Gene Variant Detail - Cancer Knowledgebase (CKB)

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Gene	CTNNB1
Variant	T41A
Impact List	missense
Protein Effect	gain of function
Gene Variant Descriptions	CTNNB1 T41A lies within a Gsk3b phosphorylation site of the Ctnnb1 protein (UniProt.org). T41A confers a gain of function to the Ctnnb1 protein as demonstrated by nuclear accumulation of Ctnnb1 and increased Ctnnb1-dependent transcription (PMID: 10698519, PMID: 10487827, PMID: 12200448).
Associated Drug Resistance
Category Variants Paths	CTNNB1 mutant CTNNB1 act mut CTNNB1 T41A

Variant Reference Transcript
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Transcript	NM_001098210.2
gDNA	chr3:g.41224633A>G
cDNA	c.121A>G
Protein	p.T41A
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.41224633A>G	c.121A>G	p.T41A	RefSeq	GRCh38/hg38
NM_001098209.1	chr3:g.41224633A>G	c.121A>G	p.T41A	RefSeq	GRCh38/hg38
NM_001098209.2	chr3:g.41224633A>G	c.121A>G	p.T41A	RefSeq	GRCh38/hg38
NM_001098210	chr3:g.41224633A>G	c.121A>G	p.T41A	RefSeq	GRCh38/hg38
NM_001098210.1	chr3:g.41224633A>G	c.121A>G	p.T41A	RefSeq	GRCh38/hg38
NM_001098210.2	chr3:g.41224633A>G	c.121A>G	p.T41A	RefSeq	GRCh38/hg38
NM_001904	chr3:g.41224633A>G	c.121A>G	p.T41A	RefSeq	GRCh38/hg38
NM_001904.3	chr3:g.41224633A>G	c.121A>G	p.T41A	RefSeq	GRCh38/hg38
NM_001904.4	chr3:g.41224633A>G	c.121A>G	p.T41A	RefSeq	GRCh38/hg38
XM_005264886	chr3:g.41224633A>G	c.121A>G	p.T41A	RefSeq	GRCh38/hg38
XM_006712985	chr3:g.41224633A>G	c.121A>G	p.T41A	RefSeq	GRCh38/hg38
XM_006712985.1	chr3:g.41224633A>G	c.121A>G	p.T41A	RefSeq	GRCh38/hg38
XM_006712985.2	chr3:g.41224633A>G	c.121A>G	p.T41A	RefSeq	GRCh38/hg38
XM_017005738	chr3:g.41224633A>G	c.121A>G	p.T41A	RefSeq	GRCh38/hg38
XM_017005738.1	chr3:g.41224633A>G	c.121A>G	p.T41A	RefSeq	GRCh38/hg38
XM_017005738.2	chr3:g.41224633A>G	c.121A>G	p.T41A	RefSeq	GRCh38/hg38
XM_024453356.1	chr3:g.41224633A>G	c.121A>G	p.T41A	RefSeq	GRCh38/hg38
XM_024453356.2	chr3:g.41224633A>G	c.121A>G	p.T41A	RefSeq	GRCh38/hg38
XM_024453357.1	chr3:g.41224633A>G	c.121A>G	p.T41A	RefSeq	GRCh38/hg38
XM_024453358.1	chr3:g.41224633A>G	c.121A>G	p.T41A	RefSeq	GRCh38/hg38
XM_047447477.1	chr3:g.41224633A>G	c.121A>G	p.T41A	RefSeq	GRCh38/hg38
XM_047447478.1	chr3:g.41224633A>G	c.121A>G	p.T41A	RefSeq	GRCh38/hg38
XM_047447479.1	chr3:g.41224633A>G	c.121A>G	p.T41A	RefSeq	GRCh38/hg38
XM_047447480.1	chr3:g.41224633A>G	c.121A>G	p.T41A	RefSeq	GRCh38/hg38
XM_047447481.1	chr3:g.41224633A>G	c.121A>G	p.T41A	RefSeq	GRCh38/hg38
XM_047447483.1	chr3:g.41224633A>G	c.121A>G	p.T41A	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 T41A	desmoid tumor	sensitive	Imatinib	Clinical Study - Cohort	Actionable	In a retrospective analysis, patients with desmoid fibromatosis harboring CTNNB1 T41A demonstrated a greater progression arrest rate at 6 months (70%) compared to patients with CTNNB1 wild-type (45%) when treated with Gleevec (imatinib) (PMID: 26861905).	26861905
CTNNB1 T41A	desmoid tumor	predicted - sensitive	BMS-906024	Case Reports/Case Series	Actionable	In a Phase I trial, BMS-906024 treatment resulted in a partial response that lasted for 3.6 years on treatment and at least another 4 years after the end of treatment in a patient with a desmoid tumor harboring CTNNB1 T41A (PMID: 34590610; NCT01292655).	34590610
CTNNB1 T41A	lung cancer	predicted - sensitive	NTRC 0066-0	Preclinical - Cell line xenograft	Actionable	In a preclinical study, cell lines harboring CTNNB1 hotspot mutations, including a lung cancer cell line harboring CTNNB1 T41A, demonstrated increased sensitivity to NTRC 0066-0 compared to cell lines with wild-type CTNNB1, in culture and in xenograft models (PMID: 28751540).	28751540
CTNNB1 T41A	hepatocellular carcinoma	sensitive	WNTinib	Preclinical - Patient cell culture	Actionable	In a preclinical study, WNTinib inhibited Ezh2 phosphorylation and viability in patient-derived hepatocellular carcinoma cell lines harboring CTNNB1 T41A in culture (PMID: 37537299).	37537299
CTNNB1 T41A	lung cancer	predicted - sensitive	Mps-BAY2b	Preclinical - Cell culture	Actionable	In a preclinical study, cell lines harboring CTNNB1 hotspot mutations, including a lung cancer cell line harboring CTNNB1 T41A, demonstrated increased sensitivity to Mps-BAY2b compared to cell lines with wild-type CTNNB1 in culture (PMID: 28751540).	28751540
CTNNB1 T41A	lung cancer	predicted - sensitive	NMS-P715	Preclinical - Cell culture	Actionable	In a preclinical study, cell lines harboring CTNNB1 hotspot mutations, including a lung cancer cell line harboring CTNNB1 T41A, demonstrated increased sensitivity to NMS-P715 compared to cell lines with wild-type CTNNB1 in culture (PMID: 28751540).	28751540
CTNNB1 T41A	lung cancer	predicted - sensitive	BAY1161909	Preclinical - Cell culture	Actionable	In a preclinical study, cell lines harboring CTNNB1 hotspot mutations, including a lung cancer cell line harboring CTNNB1 T41A, demonstrated increased sensitivity to BAY1161909 compared to cell lines with wild-type CTNNB1 in culture (PMID: 28751540).	28751540
CTNNB1 T41A	lung cancer	predicted - sensitive	BAY1217389	Preclinical - Cell culture	Actionable	In a preclinical study, cell lines harboring CTNNB1 hotspot mutations, including a lung cancer cell line harboring CTNNB1 T41A, demonstrated increased sensitivity to BAY1217389 compared to cell lines with wild-type CTNNB1 in culture (PMID: 28751540).	28751540
CTNNB1 T41A	lung cancer	predicted - sensitive	Mps1-IN-1	Preclinical - Cell culture	Actionable	In a preclinical study, cell lines harboring CTNNB1 hotspot mutations, including a lung cancer cell line harboring CTNNB1 T41A, demonstrated increased sensitivity to Mps1-IN-1 compared to cell lines with wild-type CTNNB1 in culture (PMID: 28751540).	28751540
CTNNB1 T41A	lung cancer	predicted - sensitive	MPI-0479605	Preclinical - Cell culture	Actionable	In a preclinical study, cell lines harboring CTNNB1 hotspot mutations, including a lung cancer cell line harboring CTNNB1 T41A demonstrated increased sensitivity to MPI-0479605 compared to cell lines with wild-type CTNNB1 in culture (PMID: 28751540).	28751540
CTNNB1 T41A	colorectal cancer	resistant	Cetuximab	Preclinical - Cell culture	Actionable	In a preclinical study, a colorectal cancer cell line expressing CTNNB1 T41A was resistant to treatment with Erbitux (cetuximab) in culture (PMID: 33574948).	33574948

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CTNNB1 T41A - Gene Variant Detail

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