CTNNB1 mutation analysis is performed by next-generation sequencing of all coding exons of the CTNNB1 gene.
CNNTB1 encodes the beta-catenin protein which is involved in cell adhesion and the beta-catenin/WNT signaling pathway. Somatic CTNNB1 mutations, primarily involving exon 3, are detected in ~85% of sporadic desmoid tumors (desmoid fibromatosis). Mutations are detected in ~3% of all cancers including melanoma and adenocarcinomas of lung, endometrium (endometrioid), colon, kidney (hepatocellular), and ovary. Testing may suggest therapy or clinical trial options.
- FFPE tissue: Paraffin block is preferred. Alternatively, send 1 H&E slide plus 5-10 unstained slides cut at 5 or more microns. Please use positively-charged slides and 10% NBF fixative. Do not use zinc fixatives.
Use cold pack for transport, making sure cold pack is not in direct contact with specimen.
- CTNNB1 page. My Cancer Genome website. https://www.mycancergenome.org/content/gene/ctnnb1/. Accessed March 12, 2020.
- CTNNB1 page. NIH Genetics Home Reference website. https://ghr.nlm.nih.gov/gene/CTNNB1#conditions. Accessed March 12, 2020.