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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
GeneticVariation
|
disease |
CLINVAR |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
|
25157968 |
2014 |