|
Li-Fraumeni Syndrome
|
|
0.820 |
GeneticVariation
|
BEFREE |
Patient 1 with LFS and TP53(R273H) developed a rhabdomyosarcoma twice at the ages of 18 months and 21 years.
|
21484931 |
2011 |
|
Li-Fraumeni Syndrome
|
|
0.820 |
GeneticVariation
|
BEFREE |
Here we report on a child with Li-Fraumeni syndrome with a de novo TP53 mutation c.818G>A, who developed three malignancies at the age of 4 months, 4 and 5 years, respectively.
|
25787918 |
2015 |
|
Neoplasms
|
|
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 |
|
Neoplasms
|
|
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 |
|
Neoplasms
|
|
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 |
|
Neoplasms
|
|
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 |
|
Neoplasms
|
|
0.780 |
GeneticVariation
|
BEFREE |
In addition, we have shown potential of CDK2 inhibitors for treatment of tumours expressing R273H mutant p53.
|
29372687 |
2017 |
|
Neoplasms
|
|
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 |
|
Neoplasms
|
|
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 |
|
Neoplasms
|
|
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 |
|
Colorectal Carcinoma
|
|
0.740 |
GeneticVariation
|
BEFREE |
We therefore investigated the anti-tumor properties of a gold(I) <i>N</i>-heterocyclic carbene (NHC) complex-termed MC3-in human colorectal cancer (CRC) cell lines encompassing three different p53 variations: HCT116 wild-type (WT), HCT116 p53<sup>-/-</sup>, and HT-29 (mutant; R273H).
|
31231607 |
2019 |
|
Glioblastoma
|
|
0.740 |
GeneticVariation
|
BEFREE |
The impact of arsenic trioxide and all-trans retinoic acid on p53 R273H-codon mutant glioblastoma.
|
24399651 |
2014 |
|
Glioblastoma
|
|
0.740 |
GeneticVariation
|
BEFREE |
Biallelic GOF mutations (p.R273H and p.R273C) were identified in a 19-year-old male with glioblastoma (allele frequencies 94% and 48%) and a 54-year-old with pT3 penile squamous cell carcinoma (allele frequencies 19% and 27%).
|
29666004 |
2018 |
|
Colorectal Carcinoma
|
|
0.740 |
GeneticVariation
|
BEFREE |
Finally, lnc273-31 and lnc273-34 were significantly highly expressed in CRC tissues with p53-R273H mutation compared to those with wildtype p53.
|
31455383 |
2019 |
|
Malignant neoplasm of breast
|
|
0.740 |
GeneticVariation
|
BEFREE |
We found that zinc re-established chemosensitivity in breast cancer SKBR3 (expressing R175H mutation) and glioblastoma U373MG (expressing R273H mutation) cell lines.
|
21508668 |
2011 |
|
Colorectal Carcinoma
|
|
0.740 |
GeneticVariation
|
BEFREE |
Our findings indicate the R270H/R273H p53 mutant protein does not manifest definite GOF biological effects in mouse and human CRCs, suggesting possible GOF effects of mutant p53 in cancer phenotypes are likely allele-specific and/or context-dependent.
|
31148594 |
2019 |
|
Malignant neoplasm of breast
|
|
0.740 |
GeneticVariation
|
BEFREE |
Mutation R273H confers p53 a stimulating effect on the IGF-1R-AKT pathway via miR-30a suppression in breast cancer.
|
26898459 |
2016 |
|
Glioblastoma
|
|
0.740 |
GeneticVariation
|
BEFREE |
We found that zinc re-established chemosensitivity in breast cancer SKBR3 (expressing R175H mutation) and glioblastoma U373MG (expressing R273H mutation) cell lines.
|
21508668 |
2011 |
|
Malignant neoplasm of breast
|
|
0.740 |
GeneticVariation
|
BEFREE |
Expression of mutant p53 (mtp53) R273H associates with increased cell elasticity, survival under serum deprivation conditions, and increased Poly (ADP ribose) polymerase 1 (PARP1) on the chromatin in the AA-derived TNBC breast cancer cell line MDA-MB-468.
|
26703669 |
2015 |
|
Glioblastoma
|
|
0.740 |
GeneticVariation
|
BEFREE |
To identify functional binding sites of mutp53, we established a small library of genomic sequences bound by p53(R273H) in U251 human glioblastoma cells using chromatin immunoprecipitation (ChIP).
|
19139068 |
2009 |
|
Colorectal Carcinoma
|
|
0.740 |
GeneticVariation
|
BEFREE |
The CRC colorectal cancer (CRC) cell lines HCT116 wild-type (wt), HCT116 p53-/-, and HT-29 (mutant; R273H) were employed, covering three different p53 variations.
|
28618116 |
2017 |
|
Malignant neoplasm of breast
|
|
0.740 |
GeneticVariation
|
BEFREE |
These results indicate that mtp53 R273H and PARP1 interact with replicating DNA and should be considered as dual biomarkers for identifying breast cancers that may respond to combination PARPi treatments.
|
31776133 |
2020 |
|
Osteosarcoma
|
|
0.720 |
GeneticVariation
|
BEFREE |
Some of the genetic changes identified were in tumor suppressor genes previously identified as altered in osteosarcoma: p53 (arginine→histidine at codon 273 [R273H], R→cysteine at codon 723 [R273C], and tyrosine→C at codon 163 [Y163C]) and retinoblastoma 1 (RB1) (glutamic acid→* at codon 137 [E137*]).
|
22006429 |
2012 |
|
Anaplastic thyroid carcinoma
|
|
0.720 |
GeneticVariation
|
BEFREE |
Gal-3 was over-expressed in most ATCs and TCCLs, especially those with the most frequently detected p53 mutation (p53(R273H)).
|
19199318 |
2009 |
|
Anaplastic thyroid carcinoma
|
|
0.720 |
GeneticVariation
|
BEFREE |
Adoptive overexpression of wild-type p53, but not of its inactive (R248W and R273H) mutants, strongly down-regulated transcription from the MCM7 promoter, suggesting that p53 knock-out contributes to MCM7 up-regulation in ATC.
|
15899946 |
2005 |