Hepatoblastoma
|
0.700 |
CausalMutation
|
disease |
CGI |
|
|
|
Hepatoblastoma
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
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 |
Biomarker
|
disease |
BEFREE |
Our data indicate for the first time that beta-catenin accumulation may play a role in the development of hepatoblastoma and that activating mutations of the beta-catenin gene may substitute biallelic APC inactivation in this tumor type.
|
10398436 |
1999 |
Hepatoblastoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
Immunohistochemical analysis of beta-catenin in 11 HBs demonstrated nuclear/cytoplasmic accumulation of the protein in all tumors analysed, with predominant nuclear beta-catenin immunostaining in undifferentiated cells.
|
10698519 |
2000 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
It is therefore concluded that immunohistochemical analysis of beta-catenin might be a useful clinical tool for estimating the prognosis for patients with hepatoblastoma.
|
11276007 |
2001 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
Recently, disregulation of the Wnt/beta-catenin pathway, attributable to abnormalities of the beta-catenin gene, has been reported to be a major event in the development of hepatocellular carcinomas and hepatoblastomas.
|
12203220 |
2002 |
Hepatoblastoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
Interestingly, activating mutations of the beta-catenin gene have previously been identified in 48% of HBs, and more than 85% of HBs show accumulation of beta-catenin protein as the indicator for an activated pathway.
|
12649343 |
2003 |
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 |
Although mutations in CTNNB1 were not found in the second hepatoblastoma, nuclear accumulation of beta-catenin was detected.
|
14692643 |
2004 |
Hepatoblastoma
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
The beta-catenin mutations are identified in up to 30% of HCC and 80% of hepatoblastoma, suggesting a potential role of beta-catenin in the pathogenesis of liver cancers.
|
14767485 |
2004 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
The upregulation of REG3A and REG1A expression is significantly correlated to the beta-catenin status in 42 HCC and 28 hepatoblastomas characterized for their beta-catenin status.
|
16314847 |
2006 |
Hepatoblastoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
To address beta-catenin's capability in maintaining the malignant phenotype in established pediatric HB and HCC cell lines, HuH-6 and HepG2, harboring mutated and overexpressed beta-catenin, we carried out a series of in vitro analyses through a transfection of short interfering RNAs (siRNAs) to generate a loss-of-function model.
|
16465377 |
2006 |
Hepatoblastoma
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
A histological examination revealed all HBL cases involving tumors without detectable CTNNB1 gene alterations to show high expression of beta-catenin, thus indicating the accumulation of beta-catenin to be a common event in malignant PLTs, including HBL and hepatocellular carcinoma.
|
16465411 |
2006 |
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 |
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 |
AlteredExpression
|
disease |
BEFREE |
Our findings are consistent with a relationship between poor histologic phenotype and beta-catenin activation, indicating the potential utility of targeted gene expression assays to identify molecular events related to the pathogenesis and prognosis of hepatoblastomas.
|
17163162 |
2006 |
Hepatoblastoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
Overexpression of Tbx3 is closely associated with the mutational status of beta-catenin in murine liver tumors induced by Myc as well as in human hepatocellular carcinomas and hepatoblastomas.
|
17283120 |
2007 |