|
Medulloblastoma
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Medulloblastoma
|
0.800 |
Biomarker
|
disease |
HPO |
|
|
|
|
Medulloblastoma
|
0.800 |
CausalMutation
|
disease |
CGI |
|
|
|
|
Medulloblastoma
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Medulloblastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Taken together, these data suggest that activating mutations in the beta-catenin gene may be involved in the development of a subset of medulloblastomas.
|
9500446 |
1998 |
|
Medulloblastoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Nuclear beta-catenin staining was present in 9 of the sporadic tumors (18%) and in the 1 medulloblastoma from a Turcot's patient.
|
10759189 |
2000 |
|
Medulloblastoma
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
In this study, 46 sporadic medulloblastomas were screened for the presence of mutations in genes of the Wnt signaling pathway (APC and beta-catenin).
|
10666372 |
2000 |
|
Medulloblastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In this study, 46 sporadic medulloblastomas were screened for the presence of mutations in genes of the Wnt signaling pathway (APC and beta-catenin).
|
10666372 |
2000 |
|
Medulloblastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Whereas APC mutations are rare in sporadic MBs, a hot-spot region of beta-catenin (CTNNB1) mutations was identified in a subset of MBs.
|
11585731 |
2001 |
|
Medulloblastoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Disruption of these proteins could result in upregulation of the Wnt signaling and accumulation of beta-catenin, followed by cell proliferation and medulloblastoma oncogenesis.
|
12209999 |
2002 |
|
Medulloblastoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
INTERVENTION OR TECHNIQUE: Immunostaining of tissue blocks for gene products involved in medulloblastoma differed in the two siblings for beta-catenin and was similar with staining for gli.
|
12182422 |
2002 |
|
Medulloblastoma
|
0.800 |
GeneticVariation
|
disease |
LHGDN |
Disruption of these proteins could result in upregulation of the Wnt signaling and accumulation of beta-catenin, followed by cell proliferation and medulloblastoma oncogenesis.
|
12209999 |
2002 |
|
Medulloblastoma
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Identification of two novel regulated serines in the N terminus of beta-catenin.
|
12027456 |
2002 |
|
Medulloblastoma
|
0.800 |
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
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Taken together, these data suggest that activating mutations in the beta-catenin gene may be involved in the development of a subset of medulloblastomas.
|
15176713 |
2004 |
|
Medulloblastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Components of these two developmental and cancer-associated pathways, including (Patched) PTCH, SMOH, adenomatous polyposis coli (APC), beta-catenin and AXIN1 show somatic mutations in sporadic MBs.
|
15488029 |
2004 |
|
Medulloblastoma
|
0.800 |
Biomarker
|
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
|
0.800 |
Biomarker
|
disease |
BEFREE |
Nuclear translocation of beta-catenin, a marker of Wnt pathway activation, was more common in medulloblastomas with high c-myc than in tumors overall, but the difference was not statistically significant.
|
15198123 |
2004 |
|
Medulloblastoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
All children with beta-catenin nucleopositive large cell/anaplastic medulloblastomas and beta-catenin nucleopositive medulloblastomas presenting with metastatic disease are alive at least 5 years postdiagnosis.
|
16258095 |
2005 |
|
Medulloblastoma
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
1p/19q codeletion in grade 2 and 3 gliomas, nuclear beta-catenin expression in medulloblastoma) or response to the treatment (e.g. the methyl guanyl methyl transferase promoter methylation status).
|
16988585 |
2006 |
|
Medulloblastoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
These findings provide a strong biological basis to support (1) the idiosyncratic clinical behavior of Wnt/Wg-active medulloblastomas, and (2) the development of beta-catenin status as an independent marker for therapeutic stratification in this disease.
|
17172831 |
2006 |
|
Medulloblastoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
These observations support an important functional role of WNT/beta-catenin pathway in neuronal differentiation in medulloblastoma.
|
17455096 |
2007 |
|
Medulloblastoma
|
0.800 |
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
|
0.800 |
Biomarker
|
disease |
BEFREE |
Further studies are required to test if this could explain the radiosensitivity of MB and the favorable prognostic value of nuclear beta-catenin in this tumor.
|
18688572 |
2008 |
|
Medulloblastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We report a series of 72 paediatric medulloblastomas evaluated for beta-catenin protein expression, CTNNB1 mutations, and comparative genomic hybridization.
|
19197950 |
2009 |