|
Adenocarcinoma of lung (disorder)
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Adenocarcinoma of lung (disorder)
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Adenocarcinoma of lung (disorder)
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Adenocarcinoma of pancreas
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Adenocarcinoma of pancreas
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Adenocarcinoma of pancreas
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Adenocarcinoma of prostate
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Adenocarcinoma of prostate
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Adenocarcinoma of prostate
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
ADRENOCORTICAL CARCINOMA, HEREDITARY
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Adult Lymphoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
We previously showed that the HSP90 inhibitor ganetespib potently suppresses T-lymphoma initiation and progression and extends overall survival (OS) in hotspot knockin mice expressing the p53 gain-of-function mutants R175H and R248Q (mutp53) by 30-59%.
|
28300840 |
2017 |
|
Adult Lymphoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
This was associated with a twofold higher T-lymphoma proliferation in R248Q/- mice compared with G245S/- and null mice.
|
23538418 |
2013 |
|
Alzheimer's Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
Highly pathogenic Alzheimer's disease presenilin 1 P117R mutation causes a specific increase in p53 and p21 protein levels and cell cycle dysregulation in human lymphocytes.
|
22810102 |
2012 |
|
BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Brain Neoplasms
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Brain Neoplasms
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Brain Neoplasms
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Brain Stem Glioma
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Brain Stem Glioma
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Brain Stem Glioma
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Breast Carcinoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
The R248Q mutant co-localized with amyloid-like species in a breast cancer sample, which further supported its prion-like effect.
|
22715097 |
2012 |
|
Breast Carcinoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
Hot Spot Mutation in TP53 (R248Q) Causes Oncogenic Gain-of-Function Phenotypes in a Breast Cancer Cell Line Derived from an African American patient.
|
26703669 |
2015 |
|
Carcinogenesis
|
|
0.020 |
GeneticVariation
|
BEFREE |
P53 mutation plays a pivotal role in tumorigenesis of endometrial cancer (EC), here we report that the gain-of-function mutant p53-R248Q targets the proteasome activator REGγ to promote EC progression.
|
25697482 |
2015 |
|
Carcinogenesis
|
|
0.020 |
GeneticVariation
|
BEFREE |
This study investigated regulators of mutant TP53 (R248Q) in basal-like TNBC and their impact on tumorigenesis.
|
30349649 |
2018 |
|
Carcinoma of lung
|
|
0.020 |
GeneticVariation
|
BEFREE |
Our results show: (1) wild-type p53 stimulates the transcription of reporter genes with p53CON and RGC in their 5' region while most p53 mutants occurring in human cancers have lost this activity; (2) the R273H mutant retains transcriptional activity for the p53CON sequence but not RGC; (3) some mutants are temperature-sensitive for the transcriptional activity with the p53CON but not the RGC sequence; (4) p53 mutants vary in their ability to inhibit wild-type p53 transactivation but there is no difference between p53CON and RGC sequences; (5) lung cancer cells with endogenous mutant p53 proteins (M246I in H23 cells and R248L in H322 cells) retain transcriptional activity for the p53CON but not the RGC sequence.
|
8336941 |
1993 |