CTNNB1
CTNNB1 encodes β-catenin (Wnt effector and adherens junction scaffold); activating mutations (S45F/T41A) → nuclear β-catenin → TCF/LEF target genes (MYC, CCND1, VEGFA); ~80% desmoid tumors harbor CTNNB1 mutations; nirogacestat FDA-approved for desmoid; HCC and endometrial cancer.
Entry Metadata
| Field | Value |
|---|---|
| ID | ctnnb1 |
| Name | CTNNB1 |
| Status | draft |
| Last reviewed | 2026-06-07 |
| Atlas | 01-human |
| Scale | 03-molecular |
Cross-Atlas Connections
Sources
- Morin PJ, Sparks AB, Korinek V, et al. Activation of beta-catenin-Tcf signaling in colon cancer by mutations in beta-catenin or APC. Science. 1997;275(5307):1787-1790. · PubMed 9065402
- Lazar AJ, Tuvin D, Hajibashi S, et al. Specific mutations in the beta-catenin gene (CTNNB1) correlate with local recurrence in sporadic desmoid tumors. Am J Pathol. 2008;173(5):1518-1527. · PubMed 18832571