|
rs121913412
|
|
Neoplasms
|
|
0.070 |
GeneticVariation
|
BEFREE |
Tumor DNA analysis revealed a heterozygous ACC-to-GCC missense mutation in codon 41 (T41A) and a TCT-to-CCT missense mutation in codon 45 (S45P) of exon 3 of the beta-catenin gene that was confirmed at the cDNA level.
|
18419788 |
2008 |
|
rs121913412
|
|
Neoplasms
|
|
0.070 |
GeneticVariation
|
BEFREE |
Molecular analysis of microdissected cells from the left tumour revealed the same S45P CTNNB1 mutation in blastema, tubuli, stroma and muscle, and a different CTNNB1 mutation (T41A) in stromal cells isolated from another area of the same slide.
|
17551084 |
2007 |
|
rs121913412
|
|
Neoplasms
|
|
0.070 |
GeneticVariation
|
BEFREE |
Five carcinomas showed beta-catenin mutations (S37C, T41I, T41A), including 4 (33%) of 12 endometrioid-type tumors and 1 (14%) of 7 mucinous-type tumors.
|
10391090 |
1999 |
|
rs121913412
|
|
Neoplasms
|
|
0.070 |
GeneticVariation
|
BEFREE |
Heterozygous substitution mutations at codon 37 in two cases (S37F and S37C) and at codon 41 in one case (T41A) were found in three endometrioid lesions (one borderline tumor and two carcinomas) with abnormal beta-catenin expression.
|
9537226 |
1998 |
|
rs121913412
|
|
Fibromatosis, Aggressive
|
|
0.060 |
GeneticVariation
|
BEFREE |
Our findings suggest that the response to sorafenib differs when comparing S45F-mutated DTs and T41A-mutated or wild-type DTs.
|
30980399 |
2019 |
|
rs121913412
|
|
Fibromatosis, Aggressive
|
|
0.060 |
GeneticVariation
|
BEFREE |
No statistically significant difference in relative expression levels of Wnt target genes AXIN2, DKK1 and CCND1 was identified between either CTNNB1 wild-type, S45F or T41A mutated DTF samples.
|
30528042 |
2019 |
|
rs121913412
|
|
Fibromatosis, Aggressive
|
|
0.060 |
GeneticVariation
|
BEFREE |
The majority of desmoid tumors are related to T41A and S45F mutations of the beta-catenin encoding gene (CTNNB1).
|
29330550 |
2018 |
|
rs121913412
|
|
Fibromatosis, Aggressive
|
|
0.060 |
GeneticVariation
|
BEFREE |
We demonstrated that mutated DFs (T41A or S45F) and WT are two distinct molecular subgroups with regard to β-catenin stability, α-catenin affinity, and gene expression profiling.
|
28627792 |
2017 |
|
rs121913412
|
|
Fibromatosis, Aggressive
|
|
0.060 |
GeneticVariation
|
BEFREE |
Only 1 NMC had no detectable CTNNB1 mutation; however, the patient's subsequent NMC-fibromatosis had a CTNNB1 p.T41A mutation.
|
27259010 |
2016 |
|
rs121913412
|
|
Fibromatosis, Aggressive
|
|
0.060 |
GeneticVariation
|
BEFREE |
The other 3 patients showed a CTNNB1 mutation in the original desmoid-type fibromatosis (2 with a T41A and 1 with an S45F mutation), which was absent in the sarcoma.
|
26414222 |
2015 |
|
rs121913407
|
|
Neoplasms
|
|
0.050 |
GeneticVariation
|
BEFREE |
Additional adjustment for tumor size yielded a P-value of 0.082 with hazard ratio's of 0.83 [95% confidence interval (CI) 0.48-1.42), 0.37 (95% CI 0.12-1.14), and 0.44 (95% CI 0.21-0.92) for T41A, S45P and WT DTF tumors compared to S45F DTF tumors.
|
31804402 |
2019 |
|
rs121913407
|
|
Neoplasms
|
|
0.050 |
GeneticVariation
|
BEFREE |
Tumor DNA analysis revealed a heterozygous ACC-to-GCC missense mutation in codon 41 (T41A) and a TCT-to-CCT missense mutation in codon 45 (S45P) of exon 3 of the beta-catenin gene that was confirmed at the cDNA level.
|
18419788 |
2008 |
|
rs121913407
|
|
Neoplasms
|
|
0.050 |
GeneticVariation
|
BEFREE |
Molecular analysis of microdissected cells from the left tumour revealed the same S45P CTNNB1 mutation in blastema, tubuli, stroma and muscle, and a different CTNNB1 mutation (T41A) in stromal cells isolated from another area of the same slide.
|
17551084 |
2007 |
|
rs121913407
|
|
Neoplasms
|
|
0.050 |
GeneticVariation
|
BEFREE |
Other three mutations were detected in three of five multiple tumors developed in the bilateral WT patient; a mutation of Delta45 in one of two tumors in the right kidney, and Ser45Cys (TCT --> TGT) and Ser45Pro (TCT --> CCT) in two of three tumors in the left kidney.
|
12239584 |
2002 |
|
rs121913407
|
|
Neoplasms
|
|
0.050 |
GeneticVariation
|
BEFREE |
Nuclear and/or cytoplasmic localization of beta-catenin, a potential indicator of wnt pathway activation, was seen focally within roughly one third of the tumors, though a clonal somatic mutation in beta-catenin was found in only one case (codon 45 Ser-->Pro).
|
10027390 |
1999 |
|
rs121913409
|
|
Neoplasms
|
|
0.050 |
GeneticVariation
|
BEFREE |
Finally, using a previously reported 16-gene signature, it was shown that YAP1-ΔN90-β-catenin HB tumors exhibited genetic similarities with more proliferative, less differentiated, GS-negative HB patient tumors, whereas YAP1-S33Y/S45Y-β-catenin HB exhibited heterogeneity and clustered with both well-differentiated GS-positive and proliferative GS-negative patient tumors.
|
30794807 |
2019 |
|
rs121913409
|
|
Neoplasms
|
|
0.050 |
GeneticVariation
|
BEFREE |
Additional adjustment for tumor size yielded a P-value of 0.082 with hazard ratio's of 0.83 [95% confidence interval (CI) 0.48-1.42), 0.37 (95% CI 0.12-1.14), and 0.44 (95% CI 0.21-0.92) for T41A, S45P and WT DTF tumors compared to S45F DTF tumors.
|
31804402 |
2019 |
|
rs121913409
|
|
Neoplasms
|
|
0.050 |
GeneticVariation
|
BEFREE |
This study examines whether the different CTNNB1 mutants (T41A, S45F) occurring in DTF tumors differentially affect Wnt signaling activity, which might explain the different disease course between DTF patients harboring different CTNNB1 mutations.
|
30528042 |
2019 |
|
rs121913409
|
|
Neoplasms
|
|
0.050 |
GeneticVariation
|
BEFREE |
Four APAs showed a predominant (≥50%) zona fasciculata-like cell pattern: one tumor had CYP11B1 H-score = 150, no detectable CYP11B2 expression, and harbored a PRKACA p.Leu206Arg mutation (that we have reported previously elsewhere), one had no CYP11B1 expression, CYP11B2 H-score = 40, and no mutations; the remaining two adenomas had high CYP11B1 H-score (160 and 240, respectively) and low CYP11B2 H-score (30 and 15, respectively), with the latter harboring a CTNNB1 p.Ser45Phe activating mutation.
|
28405879 |
2017 |
|
rs121913409
|
|
Neoplasms
|
|
0.050 |
GeneticVariation
|
BEFREE |
Other three mutations were detected in three of five multiple tumors developed in the bilateral WT patient; a mutation of Delta45 in one of two tumors in the right kidney, and Ser45Cys (TCT --> TGT) and Ser45Pro (TCT --> CCT) in two of three tumors in the left kidney.
|
12239584 |
2002 |
|
rs121913228
|
|
Parathyroid Adenoma
|
|
0.030 |
GeneticVariation
|
BEFREE |
The S37A mutation was reported to occur in 7.3 % in a single study of parathyroid adenomas, while in other studies no stabilizing mutations of β-catenin exon 3 were identified.
|
22576020 |
2012 |
|
rs121913228
|
|
Parathyroid Adenoma
|
|
0.030 |
GeneticVariation
|
BEFREE |
The mutation S37A (TCT > GCT) was detected by direct DNA sequencing of PCR fragments in 6 out of 104 sporadic parathyroid adenomas (5.8%).
|
18541010 |
2008 |
|
rs121913228
|
|
Parathyroid Adenoma
|
|
0.030 |
GeneticVariation
|
BEFREE |
The absence of stabilizing mutations of beta-catenin, including the previously reported S37A, encoded in CTNNB1 exon 3 among 97 tumors suggests that such mutations contribute rarely if at all to the development of sporadic parathyroid adenomas.
|
17284619 |
2007 |
|
rs121913400
|
|
Neoplasms
|
|
0.030 |
GeneticVariation
|
BEFREE |
Because heterogeneity in downstream signaling is being identified owing to mutational differences even in the β-catenin gene alone, we investigated if co-expression of point mutants of β-catenin (S33Y or S45Y) with S127A-YAP1 led to similar tumors as YAP1-ΔN90-β-catenin.
|
30794807 |
2019 |
|
rs121913400
|
|
Neoplasms
|
|
0.030 |
GeneticVariation
|
BEFREE |
In further support for the driving role of β-catenin during hepatocarcinogenesis, improved colony growth in soft agar and accelerated tumor formation was also confirmed in Huh7 cells following stable expression of the constitutively active S33Y β-catenin mutant.
|
21807967 |
2011 |