Home > A. Molecular pathology > CTNNB1

CTNNB1

MIM.116806

Friday 11 July 2003

Function

- Beta-catenin is an adherens junction protein. Beta-Catenin is a multifunctional protein related to the adherens junction and to signal transduction.

- Beta-catenin is a key molecule of cell proliferation. Its role is central to epithelial architecture, regulating the polarity of cells and tissues.

- Beta-catenin (CTNNB1) (MIM.116806) and plakoglobin are substrates for tyrosine phosphorylation following EGF stimulation of cells.

Features

- cadherin-catenin complex
- beta-catenin/APC pathway

Targets - Ligands

- Wnt

Pathology

- somatic mutations in tumors

  • somatic mutations in colorectal adenocarcinoma
  • somatic mutations in hepatoblastoma (#9927029#, #10398436#, #10698519#, #10754205#, #11309340#, #11666046#, #11813174#, #12101426#)
  • somatic mutations in endometrioid ovarian carcinoma
  • somatic mutations in medulloblastoma
  • somatic mutations in deep desmoid fibromatosis (deep desmoid tumor)
  • somatic mutations in pilomatricoma (pilomatrixoma) (MIM.116806) (#11472567#)
  • somatic mutations in adenoid cystic carcinoma (#15195113#)
  • somatic mutations in pancreatic solid-pseudopapillary tumor (83%) (#11731417#)
  • somatic mutations in pancreatoblastoma (#11696422#)
  • somatic mutations in Wilms tumor (#10463574#, #11103785#)
  • missense mutations in classic pulmonary blastoma (#15223963#)
  • somatic mutations in adamantinomatous craniopharyngioma
  • somatic mutations in calcifying odontogenic cysts (#14578169#)
  • somatic mutations in nasopharyngeal juvenile angiofibroma (#11238055#)
  • somatic mutations in sporadic fundic gland polyps (#11238048#)
  • somatic mutations in poorly differentiated (25%) and undifferentiated thyroid carcinomas (21.4%) (#11238046#)
  • somatic mutations in low-stage hepatocellular carcinoma negative for hepatitis B virus

- promoter swapping

  • promoter swapping between the genes for zinc finger protein PLAG1 and beta-catenin CTNNB1 in pleiomorphic adenoma with t(3;8)(p21;q12) translocations

Diagnostic immunochemistry

- desmoid fibromatosis vs low-grade fibromyxoid sarcoma differential diagnosis

  • beta-catenin expression in desmoid fibromatosis / negative in low-grade fibromyxoid sarcoma

Reviews

- Mizumoto K, Sawa H. Two betas or not two betas: regulation of asymmetric division by beta-catenin. Trends Cell Biol. 2007 Oct;17(10):465-73. Epub 2007 Oct 4. Review. PMID: #17919911#

- Nathke I. Cytoskeleton out of the cupboard: colon cancer and cytoskeletal changes induced by loss of APC. Nat Rev Cancer. 2006 Dec;6(12):967-74. PMID: #17093505#

- Lilien J, Balsamo J. The regulation of cadherin-mediated adhesion by tyrosine phosphorylation/dephosphorylation of beta-catenin. Curr Opin Cell Biol. 2005 Oct;17(5):459-65. PMID: #16099633#

- Brembeck FH, Rosario M, Birchmeier W. Balancing cell adhesion and Wnt signaling, the key role of beta-catenin. Curr Opin Genet Dev. 2006 Feb;16(1):51-9. PMID: #16377174#

- Harris TJ, Peifer M. Decisions, decisions: beta-catenin chooses between adhesion and transcription. Trends Cell Biol. 2005 May;15(5):234-7. PMID: #15866026#

- Bhattacharya B, Dilworth HP, Iacobuzio-Donahue C, Ricci F, Weber K, Furlong MA, Fisher C, Montgomery E. Nuclear beta-Catenin Expression Distinguishes Deep Fibromatosis From Other Benign and Malignant Fibroblastic and Myofibroblastic Lesions. Am J Surg Pathol. 2005 May;29(5):653-659. PMID: #15832090#

- Bienz M. beta-Catenin: A Pivot between Cell Adhesion and Wnt Signalling. Curr Biol. 2005 Jan 26;15(2):R64-7. PMID: #15668160#

- Moon RT, Kohn AD, Ferrari GV, Kaykas A. WNT and beta-catenin signalling: diseases and therapies. Nat Rev Genet. 2004 Sep;5(9):691-701. PMID: #15372092#

References

- ╬▓-Catenin (CTNNB1) mutations and clinicopathological features of mesenteric desmoid-type fibromatosis. Huss S, Nehles J, Binot E, Wardelmann E, Mittler J, Kleine MA, K├╝nstlinger H, Hartmann W, Hohenberger P, Merkelbach-Bruse S, Buettner R, Schildhaus HU. Histopathology. 2013 Jan;62(2):294-304. doi: 10.1111/j.1365-2559.2012.04355.x . PMID: #23020601#

- Amary MF, Pauwels P, Meulemans E, Roemen GM, Islam L, Idowu B, Bousdras K, Diss TC, O’Donnell P, Flanagan AM. Detection of beta-catenin mutations in paraffin-embedded sporadic desmoid-type fibromatosis by mutation-specific restriction enzyme digestion (MSRED): an ancillary diagnostic tool. Am J Surg Pathol. 2007 Sep;31(9):1299-309. PMID: #17721184#

Portfolio

  • Beta-catenin and adherens junction