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Gene | CTNNB1 |
Variant | S45F |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | CTNNB1 S45F lies within a Gsk3b phosphorylation site on the Ctnnb1 protein (UniProt.org). S45F confers a gain of function to the Ctnnb1 protein as demonstrated by nuclear accumulation of Ctnnb1 and increased Ctnnb1-dependent transcription (PMID: 18282277). |
Associated Drug Resistance |
Transcript | NM_001098210.1 |
gDNA | chr3:g.41224646C>T |
cDNA | c.134C>T |
Protein | p.S45F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001098209 | chr3:g.41224646C>T | c.134C>T | p.S45F | RefSeq | GRCh38/hg38 |
XM_006712985.1 | chr3:g.41224646C>T | c.134C>T | p.S45F | RefSeq | GRCh38/hg38 |
NM_001098210 | chr3:g.41224646C>T | c.134C>T | p.S45F | RefSeq | GRCh38/hg38 |
NM_001098209.1 | chr3:g.41224646C>T | c.134C>T | p.S45F | RefSeq | GRCh38/hg38 |
XM_024453357.1 | chr3:g.41224646C>T | c.134C>T | p.S45F | RefSeq | GRCh38/hg38 |
XM_005264886 | chr3:g.41224646C>T | c.134C>T | p.S45F | RefSeq | GRCh38/hg38 |
XM_006712985 | chr3:g.41224646C>T | c.134C>T | p.S45F | RefSeq | GRCh38/hg38 |
XM_017005738 | chr3:g.41224646C>T | c.134C>T | p.S45F | RefSeq | GRCh38/hg38 |
XM_024453356.1 | chr3:g.41224646C>T | c.134C>T | p.S45F | RefSeq | GRCh38/hg38 |
XM_024453358.1 | chr3:g.41224646C>T | c.134C>T | p.S45F | RefSeq | GRCh38/hg38 |
XM_017005738.1 | chr3:g.41224646C>T | c.134C>T | p.S45F | RefSeq | GRCh38/hg38 |
NM_001904 | chr3:g.41224646C>T | c.134C>T | p.S45F | RefSeq | GRCh38/hg38 |
NM_001904.3 | chr3:g.41224646C>T | c.134C>T | p.S45F | RefSeq | GRCh38/hg38 |
NM_001098210.1 | chr3:g.41224646C>T | c.134C>T | p.S45F | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
CTNNB1 S45F | colorectal adenocarcinoma | predicted - sensitive | BAY1217389 | Preclinical - Cell culture | Actionable | In a preclinical study, cell lines harboring CTNNB1 hotspot mutations, including a colorectal adenocarcinoma cell line harboring CTNNB1 S45F, demonstrated increased sensitivity to BAY1217389 compared to cell lines with wild-type CTNNB1 in culture (PMID: 28751540). | 28751540 |
CTNNB1 S45F | colorectal adenocarcinoma | predicted - sensitive | NTRC 0066-0 | Preclinical - Cell culture | Actionable | In a preclinical study, cell lines harboring CTNNB1 hotspot mutations, including a colorectal carcinoma cell line harboring CTNNB1 S45F, demonstrated increased sensitivity to NTRC 0066-0 compared to cell lines with wild-type CTNNB1 in culture (PMID: 28751540). | 28751540 |
CTNNB1 S45F | desmoid tumor | sensitive | Imatinib | Clinical Study - Cohort | Actionable | In a retrospective analysis, patients with desmoid fibromatosis harboring CTNNB1 S45F demonstrated a greater progression arrest rate at 6 months compared to CTNNB1 wild-type patients (85% vs 43%, p=0.05) when treated with Gleevec (imatinib) (PMID: 26861905). | 26861905 |
CTNNB1 S45F | colorectal adenocarcinoma | predicted - sensitive | Mps-BAY2b | Preclinical - Cell culture | Actionable | In a preclinical study, cell lines harboring CTNNB1 hotspot mutations, including a colorectal adenocarcinoma cell line harboring CTNNB1 S45F, demonstrated increased sensitivity to Mps-BAY2b compared to cell lines with wild-type CTNNB1 in culture (PMID: 28751540). | 28751540 |
CTNNB1 S45F | colorectal adenocarcinoma | predicted - sensitive | MPI-0479605 | Preclinical - Cell culture | Actionable | In a preclinical study, cell lines harboring CTNNB1 hotspot mutations, including a colorectal adenocarcinoma cell line harboring CTNNB1 S45F demonstrated increased sensitivity to MPI-0479605 compared to cell lines with wild-type CTNNB1 in culture (PMID: 28751540). | 28751540 |
CTNNB1 S45F | colorectal cancer | resistant | Cetuximab | Preclinical - Cell culture | Actionable | In a preclinical study, a colorectal cancer cell line expressing CTNNB1 S45F was resistant to treatment with Erbitux (cetuximab) in culture (PMID: 33574948). | 33574948 |
CTNNB1 S45F | colorectal adenocarcinoma | predicted - sensitive | Mps1-IN-1 | Preclinical - Cell culture | Actionable | In a preclinical study, cell lines harboring CTNNB1 hotspot mutations, including a colorectal adenocarcinoma cell line harboring CTNNB1 S45F demonstrated increased sensitivity to Mps1-IN-1 compared to cell lines with wild-type CTNNB1 in culture (PMID: 28751540). | 28751540 |
CTNNB1 S45F | colorectal adenocarcinoma | predicted - sensitive | NMS-P715 | Preclinical - Cell culture | Actionable | In a preclinical study, cell lines harboring CTNNB1 hotspot mutations, including a colorectal adenocarcinoma cell line harboring CTNNB1 S45F, demonstrated increased sensitivity to NMS-P715 compared to cell lines with wild-type CTNNB1 in culture (PMID: 28751540). | 28751540 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
CTNNB1 S45F | gain of function | CTNNB1 Inhibitor PDPK1 Inhibitor Tankyrase Inhibitor |