|
rs121913409
|
|
Liver carcinoma
|
|
0.820 |
GeneticVariation
|
BEFREE |
Oncogenic potential of N-terminal deletion and S45Y mutant β-catenin in promoting hepatocellular carcinoma development in mice.
|
30419856 |
2018 |
|
rs121913409
|
|
Liver carcinoma
|
|
0.820 |
GeneticVariation
|
BEFREE |
GC-1 exerts a notable antitumoral effect on hMet-S45Y-β-catenin HCC by inactivating Met signaling.
|
28807594 |
2017 |
|
rs28931588
|
|
Pilomatrixoma
|
|
0.820 |
GeneticVariation
|
BEFREE |
These included 5 different point mutations, 3 of them identified in 2 different tumors: S23N (cribriform trichoblastoma), D32Y (pilomatricoma and craniopharyngioma), G34R (pilomatrical carcinoma and craniopharyngioma), S37F (2 BCCs with shadow cell differentiation), and G34V (craniopharyngioma).
|
19384065 |
2009 |
|
rs28931588
|
|
Pilomatrixoma
|
|
0.820 |
GeneticVariation
|
BEFREE |
A novel mutation, D32N, was found in one case of pilomatricoma.
|
11472567 |
2001 |
|
rs121913400
|
|
Medulloblastoma
|
|
0.810 |
GeneticVariation
|
BEFREE |
These mutations caused amino acid substitutions in 3 of 80 medulloblastomas (Ser33Phe, Ser33Cys and Ser37Cys) and 1 of 4 supratentorial PNETs (Gly34Val).
|
11433413 |
2001 |
|
rs121913403
|
|
Pilomatrixoma
|
|
0.810 |
GeneticVariation
|
BEFREE |
These included 5 different point mutations, 3 of them identified in 2 different tumors: S23N (cribriform trichoblastoma), D32Y (pilomatricoma and craniopharyngioma), G34R (pilomatrical carcinoma and craniopharyngioma), S37F (2 BCCs with shadow cell differentiation), and G34V (craniopharyngioma).
|
19384065 |
2009 |
|
rs121913407
|
|
Liver carcinoma
|
|
0.810 |
GeneticVariation
|
BEFREE |
Only three HCC cases (5.6%) were found mutated at residues (G34E, S45P, P44S, T41I) important for phosphorylation and ubiquitination of beta-catenin protein.
|
25536643 |
2015 |
|
rs121913413
|
|
Liver carcinoma
|
|
0.810 |
GeneticVariation
|
BEFREE |
Only three HCC cases (5.6%) were found mutated at residues (G34E, S45P, P44S, T41I) important for phosphorylation and ubiquitination of beta-catenin protein.
|
25536643 |
2015 |
|
rs1057519837
|
|
Neoplasms
|
|
0.710 |
GeneticVariation
|
BEFREE |
Of interest, mutation analyses revealed the presence of an identical point mutation, c.98C>G, in exon 3 of β-catenin (CTNNB1) in both tumors.
|
21881488 |
2011 |
|
rs121913399
|
|
Craniopharyngioma
|
|
0.710 |
GeneticVariation
|
BEFREE |
These included 5 different point mutations, 3 of them identified in 2 different tumors: S23N (cribriform trichoblastoma), D32Y (pilomatricoma and craniopharyngioma), G34R (pilomatrical carcinoma and craniopharyngioma), S37F (2 BCCs with shadow cell differentiation), and G34V (craniopharyngioma).
|
19384065 |
2009 |
|
rs28931588
|
|
Craniopharyngioma
|
|
0.710 |
GeneticVariation
|
BEFREE |
These included 5 different point mutations, 3 of them identified in 2 different tumors: S23N (cribriform trichoblastoma), D32Y (pilomatricoma and craniopharyngioma), G34R (pilomatrical carcinoma and craniopharyngioma), S37F (2 BCCs with shadow cell differentiation), and G34V (craniopharyngioma).
|
19384065 |
2009 |
|
rs28931589
|
|
Liver carcinoma
|
|
0.710 |
GeneticVariation
|
BEFREE |
Only three HCC cases (5.6%) were found mutated at residues (G34E, S45P, P44S, T41I) important for phosphorylation and ubiquitination of beta-catenin protein.
|
25536643 |
2015 |
|
rs28931589
|
|
Craniopharyngioma
|
|
0.710 |
GeneticVariation
|
BEFREE |
These included 5 different point mutations, 3 of them identified in 2 different tumors: S23N (cribriform trichoblastoma), D32Y (pilomatricoma and craniopharyngioma), G34R (pilomatrical carcinoma and craniopharyngioma), S37F (2 BCCs with shadow cell differentiation), and G34V (craniopharyngioma).
|
19384065 |
2009 |
|
rs121913409
|
|
Fibromatosis, Aggressive
|
|
0.090 |
GeneticVariation
|
BEFREE |
Primary sporadic DTFs harboring a CTNNB1 S45F mutation have a higher risk of recurrence after surgery compared to T41A, S45P, and WT DTF, but this association seems to be mediated by tumor size.
|
31804402 |
2019 |
|
rs121913409
|
|
Fibromatosis, Aggressive
|
|
0.090 |
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
|
|
Fibromatosis, Aggressive
|
|
0.090 |
GeneticVariation
|
BEFREE |
Furthermore, the combination of hydroxychloroquine and sorafenib enhances the antiproliferative and proapoptotic effects in S45F-mutated DT cells, suggesting that profiling β-catenin status could guide clinical management of desmoid patients who are considering sorafenib treatment.
|
30980399 |
2019 |
|
rs121913409
|
|
Fibromatosis, Aggressive
|
|
0.090 |
GeneticVariation
|
BEFREE |
The majority of desmoid tumors are related to T41A and S45F mutations of the beta-catenin encoding gene (CTNNB1).
|
29330550 |
2018 |
|
rs121913409
|
|
Fibromatosis, Aggressive
|
|
0.090 |
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 |
|
rs121913409
|
|
Fibromatosis, Aggressive
|
|
0.090 |
GeneticVariation
|
BEFREE |
The specific S45F mutation has been reported to be associated with a more aggressive clinical course in DF.
|
26861905 |
2016 |
|
rs121913409
|
|
Fibromatosis, Aggressive
|
|
0.090 |
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 |
|
rs121913409
|
|
Fibromatosis, Aggressive
|
|
0.090 |
GeneticVariation
|
BEFREE |
CTNNB1 S45F mutation predicts poor efficacy of meloxicam treatment for desmoid tumors: a pilot study.
|
24788118 |
2014 |
|
rs121913409
|
|
Fibromatosis, Aggressive
|
|
0.090 |
GeneticVariation
|
BEFREE |
This series confirmed that primary, completely resected, sporadic DTs with the S45F mutation have a greater tendency for local recurrence.
|
23913621 |
2013 |
|
rs121913412
|
|
Neoplasms
|
|
0.070 |
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 |
|
rs121913412
|
|
Neoplasms
|
|
0.070 |
GeneticVariation
|
BEFREE |
Furthermore, analysis of beta-catenin gene revealed that the tumor had a typical missense mutation of threonine to alanine at colon 41 (T41A) in exon 3.
|
26907785 |
2016 |
|
rs121913412
|
|
Neoplasms
|
|
0.070 |
GeneticVariation
|
BEFREE |
The tumor carried a heterozygous p.T41A mutation in CTNNB1.
|
27213811 |
2016 |