|
ovarian neoplasm
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
|
25157968 |
2014 |
|
ovarian neoplasm
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We studied nine single nucleotide polymorphisms (SNPs) located in CTNNB1 (β-catenin) [rs4533622, rs2953], APC (rs11954856, rs351771, rs459552), and AXIN2 (rs4074947, rs7224837, rs3923087, rs2240308) in women with ovarian cancer without BRCA1/BRCA2 mutations (n = 228) and controls (n = 282).
|
24078348 |
2014 |
|
ovarian neoplasm
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
In search of this transformation mechanism in human cancer cells, we identified breast and ovarian tumor lines with upregulation of the uncomplexed transcriptionally active form of beta-catenin without mutations afflicting downstream components.
|
15542433 |
2004 |
|
ovarian neoplasm
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
This revealed 10/63 (16%) endometrioid ovarian tumours with activating mutations of the beta-catenin gene.
|
10417756 |
1999 |
|
ovarian neoplasm
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Nuclear immunoreactivities for beta -catenin and CTNNB1 mutations were restricted to independent uterine and ovarian tumors and were absent in all of the metastatic tumors, providing direct evidence for a divergence of molecular oncogenetic mechanisms in the subset of synchronous endometrioid carcinomas.
|
16021566 |
2005 |
|
ovarian neoplasm
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Oncogenic activation of the Wnt signaling pathway is common in cancers, but mutation of beta-catenin in ovarian cancer is rare.
|
19957335 |
2010 |
|
Malignant neoplasm of ovary
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Frequent nuclear beta-catenin accumulation and associated mutations in endometrioid-type endometrial and ovarian carcinomas with squamous differentiation.
|
11329142 |
2001 |
|
Malignant neoplasm of ovary
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
beta-catenin mutation and expression analysis in ovarian cancer: exon 3 mutations and nuclear translocation in 16% of endometrioid tumours.
|
10417756 |
1999 |
|
Malignant neoplasm of ovary
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We studied nine single nucleotide polymorphisms (SNPs) located in CTNNB1 (β-catenin) [rs4533622, rs2953], APC (rs11954856, rs351771, rs459552), and AXIN2 (rs4074947, rs7224837, rs3923087, rs2240308) in women with ovarian cancer without BRCA1/BRCA2 mutations (n = 228) and controls (n = 282).
|
24078348 |
2014 |
|
Malignant neoplasm of ovary
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
To summarize, the results of this study suggest that beta-catenin mutations and MI could represent two independent pathways in endometrioid ovarian carcinomas because they occur simultaneously very infrequently (in 5% of these cases). beta-catenin mutations are always associated with a nuclear beta-catenin expression pattern, whereas cases with a replication error -plus phenotype showed no abnormal beta-catenin subcellular localization.
|
11385321 |
2001 |
|
Malignant neoplasm of ovary
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the beta-catenin gene (CTNNB1) in endometrioid ovarian carcinomas.
|
9537226 |
1998 |
|
Malignant neoplasm of ovary
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Both nuclear and cytoplasmic beta-catenin expressions were demonstrated in 4 of the 27 ovarian carcinomas for which tissue samples were available for examination.
|
10391090 |
1999 |
|
Malignant neoplasm of ovary
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Oncogenic activation of the Wnt signaling pathway is common in cancers, but mutation of beta-catenin in ovarian cancer is rare.
|
19957335 |
2010 |
|
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 |