Medulloblastoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The MB subgroups with the worst prognosis have a significant association with chromosome 17 abnormalities and irregularities of APC/C cyclosome genes.
|
27592301 |
2017 |
Medulloblastoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In patients with FAP and identifiable APC gene mutation, CNS tumors, especially medulloblastoma which developed in most cases during childhood, are more common in females with FAP and APC gene mutation in codons 686-1217.
|
17238184 |
2007 |
Medulloblastoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Medulloblastomas associated with APC pathogenic variant have an overall favorable outcome, even for metastatic tumors.
|
31504825 |
2020 |
Medulloblastoma
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
CTNNB1, AXIN1 and APC expression analysis of different medulloblastoma variants.
|
23525311 |
2013 |
Medulloblastoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Risk analysis shows increased incidence of medulloblastoma in FAP patients, but APC mutations are not found in sporadic glioma or medulloblastoma.
|
9215849 |
1997 |
Medulloblastoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Previous genetic studies in MBs have identified mutations in genes coding for beta-catenin and its partners, APC and AXIN1, which cause activation of Wnt signaling.
|
17373666 |
2007 |
Medulloblastoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
APC is a critical component of the Wnt/Wingless signaling pathway, which is disrupted in sporadic cancers (e.g., colorectal adenomas, hepatocellular carcinomas, and medulloblastomas) by somatic mutations affecting multiple genes encoding alternative pathway components, including APC and CTNNB1 (encoding beta-catenin).
|
16843107 |
2006 |
Medulloblastoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A subset of cases is associated with colon cancer and APC germline mutations (Turcot syndrome), and APC and beta-catenin point mutations occur in up to 10% of sporadic cases, indicating the involvement of the Wnt pathway in the development of medulloblastoma.
|
12555076 |
2003 |
Medulloblastoma
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
APC mutations in sporadic medulloblastomas.
|
10666372 |
2000 |
Medulloblastoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations of APC in patients with Turcot syndrome (colon cancer and medulloblastoma), was well as somatic mutations of APC, beta-catenin, and Axin in sporadic medulloblastomas (MBs) have shown the importance of WNT signaling in the pathogenesis of MB.
|
15077159 |
2004 |
Medulloblastoma
|
0.700 |
Biomarker
|
disease |
HPO |
|
|
|
Medulloblastoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Medulloblastomas from children entered onto the International Society for Pediatric Oncology (SIOP)/United Kingdom Children's Cancer Study Group (UKCCSG) PNET3 trial (n = 109) were examined for beta-catenin immunoreactivity, and where tissue was available, evidence of CTNNB1 and APC mutations.
|
16258095 |
2005 |
Medulloblastoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
The adenomatous polyposis coli (APC) gene, a member of the Wingless/Wnt signal transduction pathway, has been implicated in the development of medulloblastomas in Turcot's syndrome. beta-catenin also functions in this highly conserved signaling pathway and is instrumental in growth and development.
|
10759189 |
2000 |
Medulloblastoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Although medulloblastoma tumorigenesis has been associated strongly with FAP associated with APC germline mutation, none of the 22 informative sporadic cases revealed loss of heterozygosity of the APC gene locus.
|
10375116 |
1999 |
Medulloblastoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The mutational status of APC and CTNNB1 (beta-catenin) was investigated in 33 CNS PNETs and 22 medulloblastomas.
|
19293793 |
2009 |
Medulloblastoma
|
0.700 |
Biomarker
|
disease |
CTD_human |
The molecular basis of Turcot's syndrome.
|
7661930 |
1995 |
Medulloblastoma
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
To understand the functional role of the WNT pathway in medulloblastoma, we have investigated the intracellular distribution of beta-catenin in a series of 17 human medulloblastomas to correlate such expression with neuronal differentiation and in cultured cell models following functional silencing of the APC gene by small-interference RNA (siRNA).
|
17455096 |
2007 |
Medulloblastoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Immunohistochemical detection of ALK protein identifies APC mutated medulloblastoma and differentiates the WNT-activated medulloblastoma from other types of posterior fossa childhood tumors.
|
30523493 |
2019 |
Medulloblastoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
While germline APC mutations predispose to WNT MB, germline mutations in SUFU, PTCH1, and TP53 predispose to SHH tumors.
|
24115570 |
2014 |