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: C0010276
Disease: Craniopharyngioma
Craniopharyngioma
0.700 GeneticVariation disease BEFREE The aim of this study was to investigate the noninvasive MRI-based radiomics diagnosis to detect BRAF and CTNNB1 mutations in craniopharyngioma patients. 30616515 2019
CUI: C0010276
Disease: Craniopharyngioma
Craniopharyngioma
0.700 Biomarker disease BEFREE Thereby, we found craniopharyngiomas mainly CTNNB1 mutated (8/10), including two FGFR3/CTNNB1-double mutated tumors. 29546640 2018
CUI: C0010276
Disease: Craniopharyngioma
Craniopharyngioma
0.700 GeneticVariation disease BEFREE Papillary craniopharyngiomas are defined by BRAF <sup>V600E</sup> mutations while β-catenin alterations characterize adamantinomatous craniopharyngiomas. 29396598 2018
CUI: C0010276
Disease: Craniopharyngioma
Craniopharyngioma
0.700 Biomarker disease BEFREE Can recurrences be predicted in craniopharyngiomas? β-catenin coexisting with stem cells markers and p-ATM in a clinicopathologic study of 45cases. 28709442 2017
CUI: C0010276
Disease: Craniopharyngioma
Craniopharyngioma
0.700 GeneticVariation disease BEFREE Sixteen craniopharyngiomas were further analyzed by molecular inversion profiling (MIP); 76.1% of the ACP were mutated in exon 3 of CTNNB1 encoding for β-catenin and there was a trend towards a worse event-free survival in cases mutated at Thr41. 28069929 2017
CUI: C0010276
Disease: Craniopharyngioma
Craniopharyngioma
0.700 GeneticVariation disease BEFREE We aimed to study BRAF and CTNNB1 gene mutations in CPs operated at our institute, and correlate it with clinicopathological parameters including histopathology and immunohistochemistry (IHC) for proteins VE-1 and β-catenin. 28500561 2017
CUI: C0010276
Disease: Craniopharyngioma
Craniopharyngioma
0.700 GeneticVariation disease BEFREE In order to achieve further insights distinguishing CP variants, we conducted whole genome methylation (450 k array) and microarray-based gene expression studies in addition to CTNNB1 and BRAF mutation analysis using a comprehensive cohort of 80 adaCP and 35 papCP. 26927026 2016
CUI: C0010276
Disease: Craniopharyngioma
Craniopharyngioma
0.700 GeneticVariation disease CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
CUI: C0010276
Disease: Craniopharyngioma
Craniopharyngioma
0.700 Biomarker disease CTD_human Targeted genotyping revealed BRAF p.Val600Glu in 95% of papillary craniopharyngiomas (36 of 39 tumors) and mutation of CTNNB1 in 96% of adamantinomatous craniopharyngiomas (51 of 53 tumors). 24413733 2014
CUI: C0010276
Disease: Craniopharyngioma
Craniopharyngioma
0.700 SomaticCausalMutation disease ORPHANET Targeted genotyping revealed BRAF p.Val600Glu in 95% of papillary craniopharyngiomas (36 of 39 tumors) and mutation of CTNNB1 in 96% of adamantinomatous craniopharyngiomas (51 of 53 tumors). 24413733 2014
CUI: C0010276
Disease: Craniopharyngioma
Craniopharyngioma
0.700 GeneticVariation disease BEFREE Targeted genotyping revealed BRAF p.Val600Glu in 95% of papillary craniopharyngiomas (36 of 39 tumors) and mutation of CTNNB1 in 96% of adamantinomatous craniopharyngiomas (51 of 53 tumors). 24413733 2014
CUI: C0010276
Disease: Craniopharyngioma
Craniopharyngioma
0.700 GeneticVariation disease BEFREE Mutations in the β-catenin gene were identified in 64% of the adamantinomatous craniopharyngiomas samples. 22086512 2011
CUI: C0010276
Disease: Craniopharyngioma
Craniopharyngioma
0.700 Biomarker disease BEFREE Our findings provide insights into the role of the Wnt pathway in normal pituitary development and demonstrate a causative role for mutated β-catenin in an undifferentiated RP progenitor in the genesis of murine and human craniopharyngioma. 21636786 2011
CUI: C0010276
Disease: Craniopharyngioma
Craniopharyngioma
0.700 AlteredExpression disease BEFREE The objective of this study is to perform the molecular analysis of HESX1, PROP1, POU1F1, and CTNNB1 genes and evaluate a panel of miRNA expression in craniopharyngioma. 21761366 2010
CUI: C0010276
Disease: Craniopharyngioma
Craniopharyngioma
0.700 AlteredExpression disease BEFREE Expression of aberrant beta-catenin and impaired p63 in craniopharyngiomas. 20128632 2010
CUI: C0010276
Disease: Craniopharyngioma
Craniopharyngioma
0.700 Biomarker disease BEFREE Target gene activation of the Wnt signaling pathway in nuclear beta-catenin accumulating cells of adamantinomatous craniopharyngiomas. 18540944 2009
CUI: C0010276
Disease: Craniopharyngioma
Craniopharyngioma
0.700 GeneticVariation disease BEFREE We conclude that beta-catenin mutations and/or nuclear accumulation serve as diagnostic hallmarks of the adamantinomatous variant, setting it apart from the papillary variant of craniopharyngioma. 15891929 2005
CUI: C0010276
Disease: Craniopharyngioma
Craniopharyngioma
0.700 GeneticVariation disease BEFREE Since this gene product is involved with development, these results suggest that beta-catenin mutations may contribute to the initiation and subsequent growth of congenital craniopharyngiomas. 15980970 2005
CUI: C0010276
Disease: Craniopharyngioma
Craniopharyngioma
0.700 Biomarker disease BEFREE The other unusual adamantinomatous type and squamous papillary type craniopharyngiomas showed no obvious nuclear/cytoplasmic beta-catenin immunoreactivity and no mutation of the beta-catenin gene, suggesting molecular heterogeneity. 15221941 2004