Hepatoblastoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In pediatric patients tested positive for germline mutation of APC gene screening for hepatoblastoma using alpha-fetoprotein and liver ultrasound should be performed.
|
30836352 |
2019 |
Hepatoblastoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Conflicting reports on the frequency of germline adenomatous polyposis coli (APC) gene mutations in patients with hepatoblastoma (HB) have called into question the clinical value of APC mutation testing on apparently sporadic HB.
|
29251405 |
2018 |
Hepatoblastoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Hepatoblastoma may present at birth, and screening for hepatoblastoma in infancy in families with FAP prior to APC mutation testing results may be warranted.
|
29719120 |
2018 |
Hepatoblastoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In summary, the obtained results imply that an APC mutant together with an X-linked WAS mutant, could lead to HB tumorigenesis by activating Wnt and PLK1 signaling, inhibiting TCR signaling, and reducing the antitumor activity of natural killer and dendritic cells.
|
30619485 |
2018 |
Hepatoblastoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Genomic profiles of a hepatoblastoma from a patient with Beckwith-Wiedemann syndrome with uniparental disomy on chromosome 11p15 and germline mutation of APC and PALB2.
|
29190888 |
2017 |
Hepatoblastoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We report 3 children with APC gene mutation, who underwent resection or liver transplant for HB.
|
23715166 |
2013 |
Hepatoblastoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Presuming that the HB in the two siblings was the first manifestation of FAP we performed APC mutation analysis in DNA from archived tumour tissue of his sister and in blood samples of both parents.
|
22692730 |
2012 |
Hepatoblastoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
Could APC gene screening be useful in children with hepatoblastoma? Early onset of adenocarcinoma in a child with familial adenomatous polyposis and hepatoblastoma.
|
20210251 |
2010 |
Hepatoblastoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We investigated a series of 21 sporadic paraffin-embedded hepatoblastoma cases for mutations in the p53 (exons 5-8) and beta-catenin (exon 3) genes, loss of heterozygosity at APC, microsatellite instability and immunohistochemical expression of beta-catenin and of the two main mismatch repair proteins, MLH1 and MSH2.
|
17962810 |
2008 |
Hepatoblastoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In addition, 50 patients with apparently sporadic HB were examined for APC germline mutations.
|
16317745 |
2006 |
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 spectrum of APC mutations in children with hepatoblastoma from familial adenomatous polyposis kindreds.
|
16126064 |
2005 |
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 |
Familial hepatoblastoma and APC gene mutations: renewed call for molecular research.
|
14522379 |
2003 |
Hepatoblastoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Although an association between hepatoblastoma and familial adenomatous polyposis is recognized, the breakpoint in this case is distal to 5q21 and most probably does not involve the APC gene at that location.
|
10812168 |
2000 |
Hepatoblastoma
|
0.700 |
GeneticVariation
|
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 |
GeneticVariation
|
disease |
BEFREE |
To elucidate the possible roles of APC gene alterations in sporadic hepatoblastomas, we examined loss of heterozygosity (LOH) at the APC and MCC loci and performed a sequencing analysis of a part of the APC gene, including the mutation cluster region, in 13 hepatoblastomas of non-familial adenomatous polyposis patients.
|
8764128 |
1996 |
Hepatoblastoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
APC gene mutation was identified in all seven FAP kindreds in which an at risk member developed hepatoblastoma.
|
9038672 |
1996 |
Hepatoblastoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
To determine whether inactivation of the APC gene plays a role in development of HBL, 13 sporadic infantile hepatic tumors were analyzed for genetic alterations in the APC gene.
|
7585543 |
1995 |
Hepatoblastoma
|
0.700 |
Biomarker
|
disease |
MGD |
|
|
|
Hepatoblastoma
|
0.700 |
Biomarker
|
disease |
HPO |
|
|
|
Hepatoblastoma
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Hepatoblastoma
|
0.700 |
CausalMutation
|
disease |
CGI |
|
|
|
Hepatoblastoma
|
0.700 |
GenomicAlterations
|
disease |
CGI |
|
|
|