CTNNB1, catenin beta 1, 1499

N. diseases: 1368; N. variants: 68
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.800 GeneticVariation disease BEFREE Medulloblastomas associated with APC germline pathogenic variant share the good prognosis of CTNNB1 mutated medulloblastomas. 31504825 2020
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.800 Biomarker disease BEFREE Although β-catenin immunostaining missed 4/6 WNT MBs, CTNNTB mutation analysis confirmed all WNT MB cases with amplifiable DNA. 31343993 2019
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.800 Biomarker disease BEFREE Molecular subgrouping was performed by IHC for β-catenin, GAB1 and YAP1; FISH for MYC amplification, and sequencing for CTNNB1, and by NanoString Assay on the same set of MBs. 31104222 2019
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.800 AlteredExpression disease BEFREE Transient β-catenin transfection led to an increase in the β-catenin gene and protein expression in MB cell lines. 30374857 2018
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.800 GeneticVariation disease BEFREE WNT-activated MDB is associated to monosomy 6, CTNNB1, DDX3X and TP53 mutations, beta-catenin nuclear immunoexpression, and a better prognosis than SHH-activated MDB. 29582169 2018
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.800 GeneticVariation disease BEFREE β-catenin is an integral component of the canonical Wnt signaling pathway, and its mutations are an autosomal recessive cause of colorectal cancer (CRC), medulloblastoma (MDB), and ovarian cancer. 29141249 2017
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.800 AlteredExpression disease BEFREE <i>WNT</i>-activated nuclear β-catenin accumulating medulloblastomas were smaller than the other entities (95% CI, 5.2-22.3 cm<sup>3</sup> versus 35.1-47.6 cm<sup>3</sup>; <i>P</i> = .03). 28798218 2017
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.800 GeneticVariation disease CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.800 GeneticVariation disease BEFREE Here, we show that paracrine signals driven by mutant β-catenin in WNT-medulloblastoma, an essentially curable form of the disease, induce an aberrant fenestrated vasculature that permits the accumulation of high levels of intra-tumoral chemotherapy and a robust therapeutic response. 27050100 2016
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.800 GeneticVariation disease BEFREE Therefore, we conclude that sequencing analysis of CTNNB1 exon 3 in combination with β-catenin IHC (possibly as pre-screening method) is a feasible and cost-efficient way for the determination of Wnt medulloblastomas. 24894640 2015
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.800 Biomarker disease BEFREE Using AGDEX analysis and k-means clustering, we show that the Blbp-cre::Ctnnb1(ex3)(Fl/+)Trp53 (Fl/Fl) mouse model fits well to human WNT medulloblastoma, and that, among various Myc- or Mycn-based mouse medulloblastomas, tumors in Glt1-tTA::TRE-MYCN/Luc mice proved to be most specific for human group 3 medulloblastoma. 24871706 2014
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.800 Biomarker disease BEFREE In medulloblastomas, T-Antigen has been shown to bind the Wnt signaling pathway protein β-catenin; however, the effects of this interaction on downstream cell cycle regulatory proteins remain unknown. 25229241 2014
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.800 GeneticVariation disease BEFREE Methylation subgrouping and CTNNB1 mutation status represent robust tools for the risk stratification of medulloblastoma. 24791927 2014
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.800 GeneticVariation disease CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.800 GeneticVariation disease BEFREE CTNNB1 sequencing analysis revealed that 11 out of 61 medulloblastomas harbored missense mutations in residues 32, 33, 34 and 37, which are located in exon 3. 23525311 2013
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.800 Biomarker disease BEFREE Recurrent mutations were detected in 41 genes not yet implicated in medulloblastoma; several target distinct components of the epigenetic machinery in different disease subgroups, such as regulators of H3K27 and H3K4 trimethylation in subgroups 3 and 4 (for example, KDM6A and ZMYM3), and CTNNB1-associated chromatin re-modellers in WNT-subgroup tumours (for example, SMARCA4 and CREBBP). 22722829 2012
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.800 Biomarker disease BEFREE We identified twelve genes mutated at statistically significant frequencies, including previously known mutated genes in medulloblastoma such as CTNNB1, PTCH1, MLL2, SMARCA4 and TP53. 22820256 2012
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.800 GeneticVariation disease BEFREE Several recurrent mutations were identified, both in known medulloblastoma-related genes (CTNNB1, PTCH1, MLL2, SMARCA4) and in genes not previously linked to this tumour (DDX3X, CTDNEP1, KDM6A, TBR1), often in subgroup-specific patterns. 22832583 2012
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.800 Biomarker disease BEFREE Nuclear beta-catenin has been suggested as a marker for MB prognosis. 23094051 2012
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.800 Biomarker disease BEFREE Interestingly, we did not find any nuclear immuno-reactivity to CTNNB1 in four MBs over-expressing both FZD2 and other FZD receptors, confirming the lack of nuclear CTNNB1 staining in the presence of increased FZD expression, as in other tumor types. 21850537 2012
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.800 Biomarker disease BEFREE Genes and pathways expressed during embryonic development, including the Notch, Wnt/β-Catenin, TGF-β/BMP, Shh/Patched, and Hippo pathways are mutated, lost, or aberrantly regulated in a wide variety of human cancers, including skin, breast, blood, and brain cancers, including medulloblastoma. 21295689 2011
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.800 GeneticVariation disease BEFREE Twelve of 31 medulloblastomas were found to overexpress genes belonging to the canonical WNT signaling pathway and carry a mutation in CTNNB1 gene. 21358093 2011
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.800 Biomarker disease BEFREE Low-risk medulloblastomas were defined as β-catenin nucleopositive tumors without metastasis at presentation, LC/A phenotype, or MYC amplification. 20921458 2011
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.800 AlteredExpression disease BEFREE The WNT subgroup shows overexpression of genes of the WNT/wingless signalling pathway with frequent mutations of the CNNTB1 gene, loss of chromosome 6 and accumulation of nuclear β-catenin, and is most often seen in children with medulloblastomas of classical histology.This variant has a good prognosis. 22027544 2011
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.800 GeneticVariation disease BEFREE Here we provide evidence that a discrete subtype of medulloblastoma that contains activating mutations in the WNT pathway effector CTNNB1 (hereafter, WNT subtype) arises outside the cerebellum from cells of the dorsal brainstem. 21150899 2010