|
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 |
HPO |
|
|
|
|
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 |
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 |
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 |
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 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
Nuclear beta-catenin has been suggested as a marker for MB prognosis.
|
23094051 |
2012 |
|
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 |
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 |
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 |
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 |
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 |
CausalMutation
|
disease |
CGI |
|
|
|
|
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 |
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 |
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 |
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 |
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 |
CTD_human |
|
|
|
|
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 |
GeneticVariation
|
disease |
UNIPROT |
Identification of two novel regulated serines in the N terminus of beta-catenin.
|
12027456 |
2002 |
|
Medulloblastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Surprisingly, adult MBs with 6q deletion and nuclear beta-catenin activation did not share the excellent prognosis with their pediatric counterparts.
|
20479417 |
2010 |
|
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 |