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 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
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.800 GeneticVariation disease BEFREE Whereas APC mutations are rare in sporadic MBs, a hot-spot region of beta-catenin (CTNNB1) mutations was identified in a subset of MBs. 11585731 2001
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 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 GeneticVariation disease BEFREE We report a series of 72 paediatric medulloblastomas evaluated for beta-catenin protein expression, CTNNB1 mutations, and comparative genomic hybridization. 19197950 2009
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.800 GeneticVariation disease BEFREE Taken together, these data suggest that activating mutations in the beta-catenin gene may be involved in the development of a subset of medulloblastomas. 15176713 2004
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.800 GeneticVariation disease UNIPROT In this study, 46 sporadic medulloblastomas were screened for the presence of mutations in genes of the Wnt signaling pathway (APC and beta-catenin). 10666372 2000
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.800 GeneticVariation disease BEFREE TP53 mutation status was not associated with unfavorable prognosis (P = .63) and was not linked to 17p allelic loss but was over-represented in the prognostically favorable WNT subgroup of MB as defined by CTNNB1 mutation (seven of 35 TP53-mutated tumors v 14 of 271 TP53 wild-type tumors; P = .005) and in tumors carrying high-level MYCN amplification (seven of 21 TP53-mutated tumors v 14 of 282 TP53 wild-type tumors; P = .001). 21060032 2010
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 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 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 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 GeneticVariation disease LHGDN Disruption of these proteins could result in upregulation of the Wnt signaling and accumulation of beta-catenin, followed by cell proliferation and medulloblastoma oncogenesis. 12209999 2002
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.800 GeneticVariation disease BEFREE Components of these two developmental and cancer-associated pathways, including (Patched) PTCH, SMOH, adenomatous polyposis coli (APC), beta-catenin and AXIN1 show somatic mutations in sporadic MBs. 15488029 2004
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.800 GeneticVariation disease BEFREE In this study, 46 sporadic medulloblastomas were screened for the presence of mutations in genes of the Wnt signaling pathway (APC and beta-catenin). 10666372 2000
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.800 GeneticVariation disease BEFREE Previous genetic studies in MBs have identified mutations in genes coding for beta-catenin and its partners, APC and AXIN1, which cause activation of Wnt signaling. 17373666 2007
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 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 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 GeneticVariation disease BEFREE Taken together, these data suggest that activating mutations in the beta-catenin gene may be involved in the development of a subset of medulloblastomas. 9500446 1998
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 A subset of cases is associated with colon cancer and APC germline mutations (Turcot syndrome), and APC and beta-catenin point mutations occur in up to 10% of sporadic cases, indicating the involvement of the Wnt pathway in the development of medulloblastoma. 12555076 2003
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.800 GeneticVariation disease UNIPROT Identification of two novel regulated serines in the N terminus of beta-catenin. 12027456 2002
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.800 GeneticVariation disease BEFREE Surprisingly, adult MBs with 6q deletion and nuclear beta-catenin activation did not share the excellent prognosis with their pediatric counterparts. 20479417 2010
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
0.800 GeneticVariation disease CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014