“The CTNNB1 gene provides instructions for making a protein called beta-catenin.” (Source: National Institutes of Health)
Most desmoid tumors are associated with mutations in the CTNNB1 gene. Beta-catenin has many roles in the cell including cell-to-cell connections and regulating the expression of other genes. Mutation or overexpression of beta-catenin has been associated with cancers and tumors including hepatocellular carcinoma, colorectal carcinoma, lung cancer, desmoid tumors, and more. Most desmoid tumors are associated with mutations in the CTNNB1 gene.
