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: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.400 GeneticVariation disease BEFREE The expression of S100P increases and promotes cellular proliferation by increasing nuclear translocation of β-catenin in endometrial cancer. 24966918 2014
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.400 GeneticVariation disease BEFREE Nuclear beta-catenin expression was found in 31.2% of EECs and 3% of NEECs (P=0.002), and was significantly associated with beta-catenin gene exon 3 mutations (P<0.0001). beta-catenin gene exon 3 mutations were associated with the endometrioid phenotype, and were detected in 14 (14.9%) EECs, but in none of the NEECs (P=0.02). gamma-catenin nuclear expression was found in 10 ECs; it was not associated with the histological type but was associated with more advanced stages (P=0.042). 12439748 2002
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.400 GeneticVariation disease BEFREE These data indicate that stabilization of beta-catenin due to mutations in exon 3 of the beta-catenin gene and other mechanisms may have an important role in development of endometrial carcinomas. 9721853 1998
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.400 GeneticVariation disease BEFREE A tissue microarray was constructed from paraffin wax-embedded blocks from 95 endometrial carcinomas (EC), previously studied for microsatellite instability, as well as for alterations in PTEN, k-RAS and beta-catenin. 15481028 2004
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.400 GeneticVariation disease BEFREE Several molecular alterations, most commonly PTEN mutations but also K-ras mutations, microsatellite instability, and beta-catenin mutations have been detected in endometrioid endometrial carcinoma (EEC). 16160475 2005
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.400 GeneticVariation disease BEFREE The activation of the adenomatous polyposis coli (APC)/beta-catenin/T-cell factor (Tcf) pathway due to beta-catenin gene mutation has been recently implicated in the development of some endometrial carcinomas. beta- and gamma-catenin are structurally and functionally related molecules that participate in cell adhesion and signal transduction. 11407474 2001
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.400 GeneticVariation disease BEFREE CTNNB1 mutations were identified in 15 ECs (20.5%), all of them endometrioid carcinomas (15 of 59; 25.4%). 11957146 2002
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.400 GeneticVariation disease BEFREE To evaluate the expression of four genetic markers (PTEN, BCL2, MLH1, and CTNNB1), linked to endometrial carcinogenesis, in endometrial polyps of patients with and without postmenopausal bleeding in order to determine whether symptomatic endometrial polyps have a genetic phenotype similar to that of endometrial cancer. 28622040 2017
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.400 GeneticVariation disease BEFREE Only six (46%) of the endometrial carcinoma CTNNB1 mutations occurred at residues directly phosphorylated by GSK-3beta, and only one of these was at either codon 41 or 45. 10416591 1999
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.400 GeneticVariation disease BEFREE Compared to controls, CTNNB1 mutation is present at significantly higher rates in recurrent stage I, grade 1 endometrial cancers and is found most commonly in MSS tumors. 30910249 2019
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.400 GeneticVariation disease BEFREE Given the clinical utility of identifying endometrial carcinomas with CTNNB1 mutation, the purpose of this study was to determine if immunohistochemistry could act as a surrogate for CTNNB1 gene sequencing. 29795437 2018
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.400 GeneticVariation disease BEFREE Thirty-nine CTNNB1 mutated EECs and 40 CTNNB1 wild-type EECs were identified from a cohort of previously sequenced endometrial carcinomas using a targeted next-generation sequencing panel. 30702464 2020
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.400 GeneticVariation disease BEFREE Nuclear expression of β-catenin is an accurate immunohistochemical surrogate of CTNNB1 exon 3 mutations and thus might be considered in the risk stratification of endometrial cancer. 30715091 2019
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.400 GeneticVariation disease BEFREE Accumulation of mutant beta-catenin could contribute to the development of a subset of endometrial carcinomas, particularly those of the early-onset type. 10076565 1999
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.400 GeneticVariation disease BEFREE Somatic FGF9 mutations in colorectal and endometrial carcinomas associated with membranous beta-catenin. 18165946 2008
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.400 GeneticVariation disease BEFREE Clinical significance of CTNNB1 mutation and Wnt pathway activation in endometrioid endometrial carcinoma. 25214561 2014
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.400 GeneticVariation disease BEFREE This is the first report of frequent somatic mutation of the CTNNB1 gene at codons adjacent to those encoding to Ser/Thr residues in endometrial cancer. 10671680 2000
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.400 Biomarker disease BEFREE Forty-nine ECs (three tumour blocks/case) were selected with alterations in POLE (n=10), CTNNB1 (n=8), p53 (n=10), mismatch repair (n=11), L1CAM (n=10), and ECs without any of these markers (n=9). 28424422 2017
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.400 Biomarker disease BEFREE Our previous study indicated that nuclear beta-catenin accumulation provides an initial signal for trans-differentiation toward the squamoid phenotype of endometrial carcinoma (Em Ca) cells in a TCF4-dependent manner, which makes this a possible factor for a positive prognosis. 15806138 2005
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.400 Biomarker disease BEFREE The results suggest that the nuclear localization of beta-catenin observed in endometrial hyperplasia and endometrial cancer, as in other tumors, implies that beta-catenin/Wnt-1 signal transduction is highly activated in carcinogenesis of the endometrium as well as in normal physiological conditions. 10411147 1999
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.400 Biomarker disease BEFREE Further experiments indicated miR-652 overexpression can activate the Wnt/β-catenin pathway and RORA can downregulate β-catenin and function as a tumor suppressor in endometrial cancer. 30093563 2018
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.400 Biomarker disease BEFREE The beta-catenin/TCF4/p300 pathway is involved in early signalling for trans-differentiation towards the morular phenotype of endometrial carcinoma cells, but little is known about the upstream regulators. 18798221 2008
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.400 Biomarker disease BEFREE The three components associated with the Wnt pathway--i.e., adenomatous polyposis coli (APC), beta-catenin, and E-cadherin--were evaluated in a case-control study of 28 patients with stage-I endometrial carcinomas to determine their involvement in the development of recurrent disease. 15361208 2004
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.400 Biomarker disease BEFREE Beta-catenin/TCF4/p300 signalling loops play an important role in trans-differentiation towards the morular phenotype of endometrial carcinomas. 17607667 2007
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.400 Biomarker disease BEFREE We studied the expression of phosphorylated mammalian target of rapamycin, PTEN, and β-catenin and their relationship with clinicopathologic features, molecular factors (microsatellite instability, mismatch repair, and BRAF genes) and patients' survival in a series of 260 nonconsecutive endometrial carcinomas. 22955108 2013