|
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 |
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 |
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 |
CTNNB1 nuclear localisation was seen in 36% of CNS PNETs and 27% of medulloblastomas.
|
19293793 |
2009 |
|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
UNIPROT |
Identification of two novel regulated serines in the N terminus of beta-catenin.
|
12027456 |
2002 |
|
Medulloblastoma
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
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 |
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 |