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FLASH GENE
Symbol CTNNB1 contributors: shn/npt/pgu - updated : 19-10-2017
HGNC name catenin (cadherin-associated protein), beta 1, 88kDa
HGNC id 2514
ASSOCIATED DISORDERS
corresponding disease(s) MRD19 , EVR7
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral germinal mutation      
missense mutations in exon-3 associated to histologically, a more aggressive hepatocellular carcinoma (also, mutations might lead to HCC in the absence of cirrhosis)
tumoral germinal mutation      
highly common in desmoid tumors (patients harboring CTNNB1 (45F) mutations are at particular risk for recurrence)
tumoral somatic mutation      
in ovarian malignant transformation with a characteristic phenotype: endometrioid ovarian carcinoma
tumoral somatic mutation      
in HNPCC tumors existed within the regulatory domain of beta-catenin
tumoral     --over  
beta-catenin accumulation may play a role in the development of hepatoblastoma and activating mutations may substitute biallelic APC inactivation in this tumor type
tumoral germinal mutation      
in pilomatricomas
constitutional       loss of function
of YAP1- and CTNNB1-mediated transcription blocked cell cycle reentry and progression through G1 into S phase, respectively
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
SystemTypeDisorderPubmed
cancerreproductiveprostate
CTNNB1 inhibition is a potential therapeutic option for a subset of patients with basal-derived prostate cancer (CaP)
cancerendocrinepancreas
CTNNB1- signalling is an effective therapeutic target for MEN1-mutant
cancerlung 
targeting the β-catenin pathway may provide novel strategies to prevent lung cancer development or overcome resistance to EGFR tyrosine kinase inhibitors (TKI)
ANIMAL & CELL MODELS
  • deletion of exon 3 in beta -catenine mice leads to adenomatous intestinal polyps resembling those in Apc knockout mice
  • Transgenic mice that overproduced an oncogenic form of beta-catenin in the epithelial cells of the kidney developed severe polycystic lesions
  • inactivation of mouse beta-catenin leads to ectopic formation of chondrocytes at the expense of osteoblast differentiation during both intramembranous and endochondral ossification
  • conditional inactivation of mouse beta-catenin blocks the differentiation and the development of osteoblast precursors into chondrocytes
  • conditional deletion of beta-catenin in mouse proepicardium led to impaired formation of coronary arteries. Mutant mice exhibited impaired epicardial development, including failed expansion of the subepicardial space, blunted invasion of the myocardium, and impaired differentiation of epicardium-derived mesenchymal cells into coronary smooth muscle cells
  • mice carrying CTNNB1 loss-of-function mutations show a delay in axonal sorting