|
Medulloblastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here we provide evidence that a discrete subtype of medulloblastoma that contains activating mutations in the WNT pathway effector CTNNB1 (hereafter, WNT subtype) arises outside the cerebellum from cells of the dorsal brainstem.
|
21150899 |
2010 |
|
Medulloblastoma
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Medulloblastomas associated with APC germline pathogenic variant share the good prognosis of CTNNB1 mutated medulloblastomas.
|
31504825 |
2020 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Twelve of 31 medulloblastomas were found to overexpress genes belonging to the canonical WNT signaling pathway and carry a mutation in CTNNB1 gene.
|
21358093 |
2011 |
|
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 |
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 |
|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
BEFREE |
TP53 mutation status was not associated with unfavorable prognosis (P = .63) and was not linked to 17p allelic loss but was over-represented in the prognostically favorable WNT subgroup of MB as defined by CTNNB1 mutation (seven of 35 TP53-mutated tumors v 14 of 271 TP53 wild-type tumors; P = .005) and in tumors carrying high-level MYCN amplification (seven of 21 TP53-mutated tumors v 14 of 282 TP53 wild-type tumors; P = .001).
|
21060032 |
2010 |
|
Medulloblastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Several recurrent mutations were identified, both in known medulloblastoma-related genes (CTNNB1, PTCH1, MLL2, SMARCA4) and in genes not previously linked to this tumour (DDX3X, CTDNEP1, KDM6A, TBR1), often in subgroup-specific patterns.
|
22832583 |
2012 |