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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 |
Transcript | NM_001098210.2 |
gDNA | chr3:g.41224633A>G |
cDNA | c.121A>G |
Protein | p.T41A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006712985.2 | 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_001098210.1 | 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_024453357.1 | chr3:g.41224633A>G | c.121A>G | p.T41A | RefSeq | GRCh38/hg38 |
NM_001098209 | 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_024453358.1 | 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_047447477.1 | 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_047447480.1 | 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 |
XM_047447483.1 | 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_017005738 | 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_017005738.1 | 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 |
XM_017005738.2 | 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 |
NM_001098209.2 | 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_047447479.1 | 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_001904.3 | chr3:g.41224633A>G | c.121A>G | p.T41A | RefSeq | GRCh38/hg38 |
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 | 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 | 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 |
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 | 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 |