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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
WNT-activated MDB is associated to monosomy 6, CTNNB1, DDX3X and TP53 mutations, beta-catenin nuclear immunoexpression, and a better prognosis than SHH-activated MDB.
|
29582169 |
2018 |
Medulloblastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
β-catenin is an integral component of the canonical Wnt signaling pathway, and its mutations are an autosomal recessive cause of colorectal cancer (CRC), medulloblastoma (MDB), and ovarian cancer.
|
29141249 |
2017 |
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 |
GeneticVariation
|
disease |
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
Medulloblastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here, we show that paracrine signals driven by mutant β-catenin in WNT-medulloblastoma, an essentially curable form of the disease, induce an aberrant fenestrated vasculature that permits the accumulation of high levels of intra-tumoral chemotherapy and a robust therapeutic response.
|
27050100 |
2016 |
Medulloblastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Therefore, we conclude that sequencing analysis of CTNNB1 exon 3 in combination with β-catenin IHC (possibly as pre-screening method) is a feasible and cost-efficient way for the determination of Wnt medulloblastomas.
|
24894640 |
2015 |
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 |
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 |
Methylation subgrouping and CTNNB1 mutation status represent robust tools for the risk stratification of medulloblastoma.
|
24791927 |
2014 |
Medulloblastoma
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
|
25157968 |
2014 |
Medulloblastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
CTNNB1 sequencing analysis revealed that 11 out of 61 medulloblastomas harbored missense mutations in residues 32, 33, 34 and 37, which are located in exon 3.
|
23525311 |
2013 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |