Hepatoblastoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Although mutations in CTNNB1 were not found in the second hepatoblastoma, nuclear accumulation of beta-catenin was detected.
|
14692643 |
2004 |
Hepatoblastoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Comparison to previously published data on this series of HB revealed that the number of chromosomal imbalances was significantly higher in HB tumors with loss of heterozygosity on 11p (P = 0.03), whereas in five of 10 HB biopsies without chromosomal imbalances, beta-catenin gene mutations were found.
|
10934159 |
2000 |
Hepatoblastoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
beta-catenin mutation and RASSF1A methylation were found in 22 (56.4%) and 15 (38.5%) of 39 hepatoblastomas, respectively, but SFRPs methylation was not found in any of them.
|
16937357 |
2007 |
Hepatoblastoma
|
0.700 |
GeneticVariation
|
disease |
LHGDN |
Deregulation of the APC/beta-catenin pathway occurs in a consistent fraction of hepatoblastomas, with mutations in the APC and beta-catenin genes implicated in familial adenomatous polyposis-associated and sporadic hepatoblastomas, respectively.
|
17962810 |
2008 |
Hepatoblastoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Transcriptomic analysis showed a strong correlation in gene expression between HB in the Yap1-β-catenin model and HB patient cohorts.
|
30863496 |
2019 |
Hepatoblastoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Tumors derived from 56 HBL cases treated with the Japanese Study Group for Pediatric Liver Tumors (JPLT) Protocol-2 were analyzed for oncogenic mutations (missense mutations and interstitial deletions in the third exon) of the CTNNB1 gene-encoding β-catenin and for the expression levels of telomerase reverse transcriptase (TERT).
|
22152854 |
2011 |
Hepatoblastoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
All 3 (100%) mixed epithelial and mesenchymal HBL harbored CTNNB1 mutation.
|
29079173 |
2017 |
Hepatoblastoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In CTNNB1-mutated hepatoblastoma, expression of GS was only detected in tumour areas with epithelial, not with mesenchymal differentiation.
|
21237236 |
2011 |
Hepatoblastoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Somatic mutations of beta-catenin play a crucial role in the tumorigenesis of sporadic hepatoblastoma.
|
10754205 |
2000 |
Hepatoblastoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Thus, we demonstrate that β-catenin point mutants can also collaborate with YAP1 in HB development, albeit with a distinct molecular profile from the deletion mutant, which may have implications in both biology and therapy.
|
30794807 |
2019 |
Hepatoblastoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Whole-exome sequencing identified HB as a genetically very simple tumour (2.9 mutations per tumour) with recurrent mutations in ß-catenin (CTNNB1) (12/15 cases) and the transcription factor NFE2L2 (2/15 cases).
|
25135868 |
2014 |
Hepatoblastoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
According to recent reports describing beta-catenin mutations (BCM) at hot-spot regions involving exon 3 in several types of malignancies including HB, we investigated BCM in 16 HBs classified into different histological types.
|
11666046 |
2001 |
Hepatoblastoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
To explore the contribution of additional Wnt pathway molecules to hepatocarcinogenesis, we examined beta-catenin, AXIN1 and AXIN2 mutations in 73 HCCs and 27 HBs. beta-catenin mutations were detected in 19.2% (14 out of 73) HCCs and 70.4% (19 out of 27) HBs. beta-catenin mutations in HCCs were primarily point mutations, whereas more than half of the HBs had deletions.
|
12101426 |
2002 |
Hepatoblastoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, our data clearly identify protein stabilizing mutations of the β-catenin gene as a common feature of nested stromal epithelial tumors of the liver, similarly as in hepatoblastomas.
|
22749188 |
2012 |
Hepatoblastoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
These observations suggest that accumulation of beta-catenin without an additional somatic mutation in the APC gene might be a possible mechanism for tumorigenesis of hepatoblastoma in the FAP families.
|
14654913 |
2004 |
Hepatoblastoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Thus, our present results suggested that the gain of function mutation of beta-catenin played a crucial role in the malignant progression of HBL in vivo.
|
11309340 |
2001 |
Hepatoblastoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
To address their roles in the pathogenesis of HB, we generated mice in which Myc and mutant β-catenin were targeted to immature cells of the developing mouse liver.
|
27734029 |
2016 |
Hepatoblastoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Here, we investigated the oncogenic properties of 14 different HB- and non-HB-associated β-catenin mutants encoded by Sleeping Beauty vectors following their delivery into the mouse liver by hydrodynamic tail-vein injection.
|
31597698 |
2019 |
Hepatoblastoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In human liver tumor cells without beta-catenin mutations, Nkd-1 inhibited the Wnt-3a-activated Tcf-responsive-luciferase reporter activity, whereas Nkd-1 in hepatoblastomas with beta-catenin mutations had no antagonistic effect.
|
15958610 |
2005 |
Hepatoblastoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Recent evidences have suggested that the abnormalities in Wnt signaling pathway, as seen in frequent mutation of the beta-catenin gene, may play a role in the genesis of hepatoblastoma.
|
15221005 |
2004 |
Hepatoblastoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Using single-strand conformational polymorphism analysis, deletion screening by PCR, and direct sequencing, we found a high frequency of beta-catenin mutations in sporadic HBs (48%).
|
9927029 |
1999 |
Hepatoblastoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Among human cancers tightly linked to abnormal Wnt/β-catenin signaling, hepatoblastoma (HB) presents with the highest rate (50-90%) of β-catenin mutations.
|
19646548 |
2011 |
Hepatoblastoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The β-catenin mutation is frequently observed in hepatoblastoma (HB), but the underlying mechanism by which Wnt/β-catenin signaling induces HB tumor formation is unknown.
|
31462641 |
2019 |
Hepatoblastoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The Wnt/beta-catenin/T-cell factor (Tcf) pathway is aberrantly up-regulated in the majority of colorectal cancers (CRC) and hepatoblastomas due to either an APC or beta-catenin gene mutation.
|
17047077 |
2006 |
Hepatoblastoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The current observation of a somatic CTNNB1 mutation in a hepatoblastoma from a patient with a germline GPC3 mutation supports the notion that the mutation in GPC3 may influence one of the initial steps in tumorigenesis and the progression to hepatoblastoma.
|
24459012 |
2014 |