|
Agenesis of corpus callosum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Molecular alterations in the APC/beta-catenin pathway were detected in 23.5% (4 of 17) of the carcinomas, including one ACC with an activating mutation of the beta-catenin oncogene and three ACCs with truncating APC mutations.
|
11891193 |
2002 |
|
Agenesis of corpus callosum
|
0.100 |
Biomarker
|
disease |
BEFREE |
We detected beta-catenin on the cell membranes in all ACCs, but its distribution was irregular, as compared to that on normal structures.
|
15943036 |
2005 |
|
Agenesis of corpus callosum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Somatic activating mutations of the beta-catenin gene (CTNNB1) are the most frequent genetic defects identified both in adrenocortical adenomas (ACAs) and adrenocortical cancers (ACCs).
|
18647815 |
2008 |
|
Agenesis of corpus callosum
|
0.100 |
Biomarker
|
disease |
BEFREE |
A role of beta-catenin (CTNNB1) in the molecular pathogenesis of adrenocortical carcinoma (ACC) has been suspected in adult ACC and pediatric pigmented nodular adrenocortical disease, but it has never been reported in pediatric ACC.
|
19863445 |
2010 |
|
Agenesis of corpus callosum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
All TP53 and CTNNB1 mutations seemed to be mutually exclusive and were observed only in the poor-outcome ACC group.
|
20959480 |
2010 |
|
Agenesis of corpus callosum
|
0.100 |
Biomarker
|
disease |
BEFREE |
ACTs from patients with FAP and sporadic adrenocortical carcinomas (ACC) with abnormal β-catenin localization on immunohistochemistry but no somatic β-catenin mutations were studied.
|
20978149 |
2010 |
|
Agenesis of corpus callosum
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
In 79 patients with resected primary ACC from a French cohort (Cochin-COMETE), β-catenin expression was assessed on tumor specimens by immunohistochemistry.
|
21088256 |
2011 |
|
Agenesis of corpus callosum
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Analysis regarding the level of expression of Wnt/β-catenin and p53 signaling has shown alterations, in keeping with the known molecular somatic genetic defects of these pathways that are observed in ACC.
|
21208995 |
2011 |
|
Agenesis of corpus callosum
|
0.100 |
Biomarker
|
disease |
BEFREE |
Within this dataset, the expression profiles of five genes were validated by real time-PCR (RT-PCR) in a cohort of 34 adrenocortical tissues (six AA and one ACC with CTNNB1 mutations, 13 AA and four ACC with WT CTNNB1, and 10 normal adrenal glands) and two human ACC cell lines.
|
21565795 |
2011 |
|
Agenesis of corpus callosum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Evaluation of adrenal tumors from 118 adult patients demonstrated an increase in CTNNB1 mutations and abnormal β-catenin accumulation in both adrenocortical adenoma and ACC.
|
22800756 |
2012 |
|
Agenesis of corpus callosum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Similar to patient tumor specimen the H295 cell line derived from an ACC harbors a natural activating β-catenin mutation.
|
23409032 |
2013 |
|
Agenesis of corpus callosum
|
0.100 |
Biomarker
|
disease |
BEFREE |
AXIN1 entire coding region was studied on the 8 ACC with nuclear β-catenin staining.
|
23812285 |
2013 |
|
Agenesis of corpus callosum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A subset of ACCs is known to show alterations in the APC/β-catenin pathway which includes mutations of APC gene.
|
24590585 |
2014 |
|
Agenesis of corpus callosum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We performed exome sequencing and SNP array analysis of 45 ACCs and identified recurrent alterations in known driver genes (CTNNB1, TP53, CDKN2A, RB1 and MEN1) and in genes not previously reported in ACC (ZNRF3, DAXX, TERT and MED12), which we validated in an independent cohort of 77 ACCs.
|
24747642 |
2014 |
|
Agenesis of corpus callosum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Somatic mutations in ACC-associated genes included TP53 (8/41 tumors, 19.5%) and CTNNB1 (4/41, 9.8%).
|
25490274 |
2015 |
|
Agenesis of corpus callosum
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Abnormal activation of the Wnt/β-catenin as well as the IGF2 signaling plays an important role in ACC development.
|
25589272 |
2015 |
|
Agenesis of corpus callosum
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Aberrant expression of β-catenin has been found in approximatively 30% of ACC.
|
25823656 |
2015 |
|
Agenesis of corpus callosum
|
0.100 |
Biomarker
|
disease |
BEFREE |
IHC data were in accordance with qRT-PCR results: 47 % of ACC (7/15) and 33 % of ACA (11/33) showed increased cytoplasmic or nuclear β-catenin accumulation.
|
27468715 |
2016 |
|
Agenesis of corpus callosum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Thirteen pathogenic variants of ACC-associated TP53 and CTNNB1 genes were detected in epithelial and/or nonepithelial components in 4 out of 6 tumors.
|
27589897 |
2016 |
|
Agenesis of corpus callosum
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
The Wnt/beta-catenin pathway can be activated in both benign and malignant tumors by <i>CTNNB1</i> mutations and by <i>ZNRF3</i> inactivation in adrenal cancer (ACC).
|
29233839 |
2018 |
|
Agenesis of corpus callosum
|
0.100 |
Biomarker
|
disease |
BEFREE |
These findings suggest that BCL9 overexpression may serve as an alternative driver of constitutive Wnt/β-Catenin activation in ACC and could represent a potential molecular and diagnostic marker of tumor malignancy.
|
29428231 |
2018 |
|
Agenesis of corpus callosum
|
0.100 |
Biomarker
|
disease |
BEFREE |
We performed immunohistochemical staining for β-catenin and mutation analysis for Wnt/β-catenin-related genes (CTNNB1, APC, AXIN1 and AXIN2) in BCA (n = 34), BCAC (n = 3), ACC (n = 67) and PA (n = 31).
|
29496310 |
2018 |
|
Agenesis of corpus callosum
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
We verified that Nutlin-3a inhibited cellular proliferation in ACC cell line NCI-H295R which harbored CTNNB1 mutation but not in SW13 cells which did not.
|
29532999 |
2018 |
|
Agenesis of corpus callosum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Twenty-four PAs (15 cell-rich and 9 cell-poor tumors) and 24 ACCs (10 tubular, 8 cribriform, and 6 solid tumors) were selected for the analysis of β-catenin distribution and cellular localization.
|
29577164 |
2018 |
|
Agenesis of corpus callosum
|
0.100 |
Biomarker
|
disease |
BEFREE |
Our findings suggest that CTNNB1-targeting therapy may overcome immune exclusion in ACC.
|
29670378 |
2018 |