|
Medulloblastoma
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Medulloblastoma
|
0.800 |
CausalMutation
|
disease |
CGI |
|
|
|
|
Medulloblastoma
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Transient β-catenin transfection led to an increase in the β-catenin gene and protein expression in MB cell lines.
|
30374857 |
2018 |
|
Medulloblastoma
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
The WNT subgroup shows overexpression of genes of the WNT/wingless signalling pathway with frequent mutations of the CNNTB1 gene, loss of chromosome 6 and accumulation of nuclear β-catenin, and is most often seen in children with medulloblastomas of classical histology.This variant has a good prognosis.
|
22027544 |
2011 |
|
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 |
AlteredExpression
|
disease |
BEFREE |
<i>WNT</i>-activated nuclear β-catenin accumulating medulloblastomas were smaller than the other entities (95% CI, 5.2-22.3 cm<sup>3</sup> versus 35.1-47.6 cm<sup>3</sup>; <i>P</i> = .03).
|
28798218 |
2017 |
|
Medulloblastoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Using AGDEX analysis and k-means clustering, we show that the Blbp-cre::Ctnnb1(ex3)(Fl/+)Trp53 (Fl/Fl) mouse model fits well to human WNT medulloblastoma, and that, among various Myc- or Mycn-based mouse medulloblastomas, tumors in Glt1-tTA::TRE-MYCN/Luc mice proved to be most specific for human group 3 medulloblastoma.
|
24871706 |
2014 |
|
Medulloblastoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Genes and pathways expressed during embryonic development, including the Notch, Wnt/β-Catenin, TGF-β/BMP, Shh/Patched, and Hippo pathways are mutated, lost, or aberrantly regulated in a wide variety of human cancers, including skin, breast, blood, and brain cancers, including medulloblastoma.
|
21295689 |
2011 |
|
Medulloblastoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Although β-catenin immunostaining missed 4/6 WNT MBs, CTNNTB mutation analysis confirmed all WNT MB cases with amplifiable DNA.
|
31343993 |
2019 |
|
Medulloblastoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Low-risk medulloblastomas were defined as β-catenin nucleopositive tumors without metastasis at presentation, LC/A phenotype, or MYC amplification.
|
20921458 |
2011 |
|
Medulloblastoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
In medulloblastomas, T-Antigen has been shown to bind the Wnt signaling pathway protein β-catenin; however, the effects of this interaction on downstream cell cycle regulatory proteins remain unknown.
|
25229241 |
2014 |
|
Medulloblastoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Recurrent mutations were detected in 41 genes not yet implicated in medulloblastoma; several target distinct components of the epigenetic machinery in different disease subgroups, such as regulators of H3K27 and H3K4 trimethylation in subgroups 3 and 4 (for example, KDM6A and ZMYM3), and CTNNB1-associated chromatin re-modellers in WNT-subgroup tumours (for example, SMARCA4 and CREBBP).
|
22722829 |
2012 |
|
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 |
Biomarker
|
disease |
BEFREE |
CTNNB1 nuclear localisation was seen in 36% of CNS PNETs and 27% of medulloblastomas.
|
19293793 |
2009 |
|
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 |
Biomarker
|
disease |
BEFREE |
We identified twelve genes mutated at statistically significant frequencies, including previously known mutated genes in medulloblastoma such as CTNNB1, PTCH1, MLL2, SMARCA4 and TP53.
|
22820256 |
2012 |
|
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 |
Biomarker
|
disease |
BEFREE |
Molecular subgrouping was performed by IHC for β-catenin, GAB1 and YAP1; FISH for MYC amplification, and sequencing for CTNNB1, and by NanoString Assay on the same set of MBs.
|
31104222 |
2019 |
|
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 |
Biomarker
|
disease |
HPO |
|
|
|
|
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 |
Biomarker
|
disease |
BEFREE |
Nuclear beta-catenin has been suggested as a marker for MB prognosis.
|
23094051 |
2012 |
|
Medulloblastoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Interestingly, we did not find any nuclear immuno-reactivity to CTNNB1 in four MBs over-expressing both FZD2 and other FZD receptors, confirming the lack of nuclear CTNNB1 staining in the presence of increased FZD expression, as in other tumor types.
|
21850537 |
2012 |
|
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 |