|
rs28934576
|
|
|
0.780 |
GeneticVariation |
BEFREE |
Inhibition of glucosylceramide synthase with d-threo-1-phenyl-2-decanoylamino-3-morpholino-1-propanol (PDMP) sensitized p53-R273H cancer cells and tumor xenografts to doxorubicin treatments.
|
27517620 |
2016 |
|
rs28934576
|
|
|
0.780 |
GeneticVariation |
BEFREE |
TP53 G245C and R273H point mutations are two of the most frequent mutations in tumors and have been verified in several different cancers.
|
30126368 |
2018 |
|
rs28934576
|
|
|
0.780 |
GeneticVariation |
BEFREE |
Previously, we reported that suppression of ceramide glycosylation restored wild-type p53 protein and tumor suppressing function in cancer cells heterozygously carrying p53 R273H, a hot-spot missense mutation; however, the mechanisms underlying the control of mutant protein expression remain elusive.
|
30578766 |
2019 |
|
rs28934576
|
|
|
0.780 |
GeneticVariation |
BEFREE |
In contrast to the endometrioid-type tumor, all 3 mutations in 5 serous-type tumors (R273H, 9-bp deletion in codons 240-243, and R248W) showed dominant-negative capacity and presented in a homozygous state in the tumors, indicating a complete functional inactivation.
|
11733960 |
2001 |
|
rs28934576
|
|
|
0.780 |
GeneticVariation |
BEFREE |
In addition, we have shown potential of CDK2 inhibitors for treatment of tumours expressing R273H mutant p53.
|
29372687 |
2017 |
|
rs28934576
|
|
|
0.780 |
GeneticVariation |
BEFREE |
The canonical p53 hotspot mutants R175H and R273H, for example, confer upon tumors a metastatic phenotype in murine models of mutant p53.
|
31067569 |
2020 |
|
rs28934576
|
|
T |
0.780 |
GeneticVariation |
CLINVAR |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
|
25157968 |
2014 |
|
rs28934576
|
|
|
0.780 |
GeneticVariation |
BEFREE |
All three follicular cell lines, however, and the original tumor tissue showed the same p53 mutation (R273H) in MOH analysis and TGGE.
|
7725741 |
1995 |
|
rs28934576
|
|
|
0.780 |
GeneticVariation |
BEFREE |
To investigate the DN effect on tumor migration and invasion, we generated cells that stably co-expressed wild-type (wt) and R273H DN mutant TP53 (273H cells), and wt and R213Q recessive mutant TP53 (213Q cells), by transfection in endometrial cancer cells HHUA that expressed wt p53.
|
17636407 |
2007 |
|
rs28934578
|
|
|
0.780 |
GeneticVariation |
BEFREE |
In vitro, the R175L mutant displayed an attenuated tumor suppressor activity in the regulation of transcription, colony formation, and apoptosis when compared with wild-type p53 and the R175H mutant.
|
16707427 |
2006 |
|
rs28934578
|
|
|
0.780 |
GeneticVariation |
BEFREE |
In addition, exogenous Δ40p53 expression significantly suppressed cell growth in HCC cells with wild-type TP53, and in those that were mutant or null for TP53 Notably, Δ40p53α-induced tumor suppressor activity was markedly attenuated in cells expressing the hot-spot mutant Δ40p53α-R175H, which lacks the transcription factor activity of p53.
|
27980070 |
2017 |
|
rs28934578
|
|
|
0.780 |
GeneticVariation |
BEFREE |
Targeted next-generation sequencing with ThyroSeq v2 was performed on the tumor, and only a TP53 mutation (TP53 p.R175H) was identified.
|
26744121 |
2016 |
|
rs28934578
|
|
|
0.780 |
GeneticVariation |
BEFREE |
Since tumor cells face glucose and growth factor shortage when growing distant from sites of vascularization, we used genetically-matched human C8161 melanoma harbouring wt p53 or a tumor-associated (DN) mutant p53 (R175H), to investigate whether this mutation influences survival under metabolic stress.
|
21832879 |
2011 |
|
rs28934578
|
|
|
0.780 |
GeneticVariation |
BEFREE |
To understand the relevance of p53 missense mutations in vivo, we generated a mouse containing an arg-to-his substitution at p53 amino acid 172, which corresponds to the R175H hot-spot mutation in human tumors by homologous recombination.
|
10760284 |
2000 |
|
rs28934578
|
|
|
0.780 |
GeneticVariation |
BEFREE |
Ectopic expression of this truncated domain significantly suppressed G1/S-phase transition, cellular proliferation, and tumour formation of RK3E-p53(R175H) /Rsf-1/cyclin E1 cells.
|
23378270 |
2013 |
|
rs28934578
|
|
|
0.780 |
GeneticVariation |
BEFREE |
Moreover, R175H gain-of-function mutant expands the mammary epithelial stem cells (MESCs) that give rise to the mammary tumors.
|
22824795 |
2013 |
|
rs28934578
|
|
|
0.780 |
GeneticVariation |
BEFREE |
These findings suggest that TP53 somatic mutations, particularly at codon p.R175H, are enriched in tumors with infiltrating immune cells.
|
31637877 |
2019 |
|
rs28934578
|
|
T |
0.780 |
GeneticVariation |
CLINVAR |
p53 regulates glucose metabolism through an IKK-NF-kappaB pathway and inhibits cell transformation.
|
18391940 |
2008 |
|
rs28934578
|
|
T |
0.780 |
GeneticVariation |
CLINVAR |
Role of the p53-homologue p73 in E2F1-induced apoptosis.
|
11101847 |
2000 |
|
rs28934578
|
|
T |
0.780 |
GeneticVariation |
CLINVAR |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
|
25157968 |
2014 |
|
rs11540652
|
|
|
0.770 |
GeneticVariation |
BEFREE |
Intriguingly, Cer-RUB nanomicelle treatments restored p53-dependent tumor suppression and sensitivity to cisplatin in OVCAR-3 ovarian cancer cells and xenograft tumors carrying p53 R248Q mutation.
|
31645443 |
2020 |
|
rs11540652
|
|
|
0.770 |
GeneticVariation |
BEFREE |
TP53 mutation analysis revealed an R248L mutation in both epithelial and mesenchymal components of 1 tumor.No TP53 rearrangements were identified.
|
25704628 |
2015 |
|
rs11540652
|
|
|
0.770 |
GeneticVariation |
BEFREE |
Interestingly, direct DNA sequencing of the paraffin-embedded tumor sample identified a novel R248Q mutation in the TP53 gene.
|
22534715 |
2012 |
|
rs11540652
|
|
T |
0.770 |
GeneticVariation |
CLINVAR |
Mutant p53 in cancer: new functions and therapeutic opportunities.
|
24651012 |
2014 |
|
rs11540652
|
|
|
0.770 |
GeneticVariation |
BEFREE |
We show that the most common mutp53 allele R248Q (p53<sup>Q</sup>) exerts gain of function (GOF) and creates tumor dependence in mouse CRC models. mutp53 protein binds Stat3 and enhances activating Stat3 phosphorylation by displacing the phosphatase SHP2.
|
30107178 |
2018 |