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Profile Name | CTNNB1 R453L |
Gene Variant Detail | |
Relevant Treatment Approaches |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
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 |
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 | 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 | 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 | 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 |