|
rs11540652
|
|
|
0.770 |
GeneticVariation |
BEFREE |
Here we use a novel mutp53 mouse model expressing an inactivatable R248Q hotspot mutation (floxQ) to show that tumours depend on sustained mutp53 expression.
|
26009011 |
2015 |
|
rs11540652
|
|
T |
0.770 |
GeneticVariation |
CLINVAR |
Mutant p53 in cancer: new functions and therapeutic opportunities.
|
24651012 |
2014 |
|
rs11540652
|
|
T |
0.770 |
GeneticVariation |
CLINVAR |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
|
25157968 |
2014 |
|
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 |
|
rs121912651
|
|
|
0.760 |
GeneticVariation |
BEFREE |
Moreover, a cancer-derived ATF3 mutant (R88G) devoid of ubiquitination failed to prevent p53 from MDM2-mediated degradation and thus was unable to activate the tumor suppressor.
|
31796886 |
2019 |
|
rs121912651
|
|
|
0.760 |
GeneticVariation |
BEFREE |
Expression of the dominant-negative p53 R248W mutant due to TM significantly reduced the transactivation of several established p53 target genes that mediate the tumor-suppressor function, including <i>CDKN1A</i> (p21) and <i>BBC3</i> (PUMA).
|
29666243 |
2018 |
|
rs121912651
|
|
A |
0.760 |
GeneticVariation |
CLINVAR |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
|
25157968 |
2014 |
|
rs121912651
|
|
|
0.760 |
GeneticVariation |
BEFREE |
Common tumor mutants (R248W, R273C) were compared with the AA-associated mutants N131Y, R249W, and Q104L.
|
23612969 |
2013 |
|
rs121912651
|
|
|
0.760 |
GeneticVariation |
BEFREE |
The XRCC1 R194W polymorphism was associated with a modest increased risk of TP53 tumor mutations in those who regularly smoked cigarettes (odds ratio, 1.4; 95% confidence interval, 1.02-1.9).
|
19959686 |
2009 |
|
rs121912651
|
|
|
0.760 |
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 |
|
rs121912651
|
|
|
0.760 |
GeneticVariation |
BEFREE |
We show results that indicate that expression of these specific ribosomal protein genes is increased in the presence of the R248W p53 mutant, which provides a mechanism for their overexpression in human tumors.
|
10566557 |
1999 |
|
rs28934575
|
|
|
0.740 |
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 |
|
rs28934575
|
|
T |
0.740 |
GeneticVariation |
CLINVAR |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
|
25157968 |
2014 |
|
rs28934575
|
|
|
0.740 |
GeneticVariation |
BEFREE |
In contrast, G245S/- mice were similar to null mice in tumor latency and survival.
|
23538418 |
2013 |
|
rs28934575
|
|
|
0.740 |
GeneticVariation |
BEFREE |
The patient harbored a germline TP53 G245C mutation, and the primary tumor showed loss of heterozygosity with retention of the mutated TP53 allele.
|
23406775 |
2013 |
|
rs28934575
|
|
|
0.740 |
GeneticVariation |
BEFREE |
Mutations in ATRX (α-thalassaemia/mental retardation syndrome X-linked) and DAXX (death-domain associated protein), encoding two subunits of a chromatin remodelling complex required for H3.3 incorporation at pericentric heterochromatin and telomeres, were identified in 31% of samples overall, and in 100% of tumours harbouring a G34R or G34V H3.3 mutation.
|
22286061 |
2012 |
|
rs28934575
|
|
T |
0.740 |
GeneticVariation |
CLINVAR |
Structural basis for understanding oncogenic p53 mutations and designing rescue drugs.
|
17015838 |
2006 |
|
rs121913343
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The most frequent mutation in sporadic brain tumors is mutation R273C, which is relatively rare in grade 4 tumors compared with lower-grade tumors (p = 1.2 × 10(-5), OR 0.43, 95% CI 0.29-0.63).
|
24481542 |
2014 |
|
rs121913343
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
|
25157968 |
2014 |
|
rs121912664
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The present finding indicates that the TP53 p.R337H germline mutation is uncommon in patients with EPN in Brazil and screening of pediatric patients RELA fusion EPN may be informative to better understand the role of TP53 germline mutations in the development and prognosis of these tumors.
|
31728854 |
2020 |
|
rs762846821
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In all components (bilateral serous borderline tumors, low-grade serous carcinoma and mesonephric-like adenocarcinoma), an identical KRAS mutation was detected (NM_004985.4): c.35G>A, p.(G12D) proving a clonal association between the serous and mesonephric-like components and excluding a collision neoplasm.
|
30575604 |
2020 |
|
rs121912664
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We investigated tumor profile data and outcomes of individuals and their close relatives with the TP53 p.R337H germline mutation.
|
30974190 |
2019 |
|
rs55819519
|
|
|
0.100 |
GeneticVariation |
BEFREE |
IDH1-R132H acts as a tumor suppressor in glioma via epigenetic up-regulation of the DNA damage response.
|
30760578 |
2019 |
|
rs55819519
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Neither tumor stained with antibody to IDH-1 (R132H).
|
31677487 |
2019 |
|
rs762846821
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Importantly, FGTI-2734 inhibited the growth of xenografts derived from four patients with pancreatic cancer with mutant KRAS (2 G12D and 2 G12V) tumors.
|
31227505 |
2019 |