|
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 |
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 |
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 |
|
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 |
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
|
|
|
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
|
|
|
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 |
|
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 |
|
rs1042522
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Results indicated that Arg72Pro is associated with higher susceptibility to cancer in some tumor sites, mainly hepatocarcinoma.
|
20886596 |
2011 |
|
rs1042522
|
|
|
0.100 |
GeneticVariation |
BEFREE |
To evaluate the significance of the TP53 mutation as a molecular marker to predict the prognosis of CRC patients, especially those who received postoperative chemotherapy, we examined the mutation by direct sequencing from fresh CRC tumors and evaluated the R72P polymorphism of the mutated TP53 by a combined mutant allele- and polymorphic allele-specific polymerase chain reaction (PCR).
|
19954513 |
2009 |
|
rs1042522
|
|
|
0.100 |
GeneticVariation |
BEFREE |
ERCC1 Lys259Thr (rs735482), ERCC2 Lys751Gln (rs13181), ERCC5 His46His C>T (rs1047768), XRCC1 Arg399Gln (rs25487), TP53 Arg72Pro (rs1042522) and MDM2 309T>G (rs2279744) were analyzed on tumor DNA.
|
28351583 |
2017 |
|
rs1042522
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Polymorphisms were identified within the TP53 (R72P and Ins16) and MDM2 (SNP309) genes that may further diminish TP53 tumor suppressor activity.
|
19046423 |
2008 |
|
rs1042522
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Statistically significant associations were noted between SNPs in beta-catenin and APOE and a positive family history of cancer (beta-catenin: p=0.034, APOE: p=0.033); tumor location and a DCC SNP (p=0.038) and the P53 R72P mutation and survival (p=0.0336).
|
15523694 |
2005 |
|
rs1042522
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We here studied the association of rs1219648 in FGFR2 and rs1042522 in TP53 and their interaction in development of early onset sporadic breast cancer in Iranian Azeri population to evaluate epistatic effects on the risk of mammary neoplasia.
|
25292094 |
2014 |
|
rs1042522
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The TP53 R72P polymorphism was not linked to tumor location, histologic grade, lymph node metastases, Dukes stage, p53 positivity, or age at diagnosis, but to tumor size.
|
17599946 |
2007 |
|
rs1042522
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Impact of the MDM2 SNP309 and p53 Arg72Pro polymorphism on age of tumour onset in Li-Fraumeni syndrome.
|
16258005 |
2006 |
|
rs1042522
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In addition, the TP53 R72P polymorphism and chromosome 1p/19q status, a major biomarker in oligodendroglial t</span>umors, were investigated.
|
18262501 |
2008 |
|
rs1042522
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Patients who had the allele Pro of the TP53 Arg72Pro polymorphism had an increased risk of tumor development (odds ratio, OR = 3.23; confidence interval at 95%, 95%CI = 1.71-6.08; P = 0.003), as did the allele Ser of TP53 Pro47Ser polymorphism (OR = 1.28; 95%CI = 0.03-2.10; P = 0.01).
|
19224462 |
2009 |
|
rs1042522
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The HPV E6 oncoprotein binds to the tumor suppressor gene product p53, promoting its degradation; the Arg allele of p53 Arg72Pro polymorphism binds more ardently with HPV E6 than the Pro variant.
|
23065429 |
2012 |
|
rs1042522
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Genetic data revealed that the p53 Arg72Pro genotype was found to be greatly associated with breast cancer risk (p<0.001), as well as tumor site (p=0.046).
|
25750340 |
2015 |
|
rs1042522
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The polymorphism rs1042522 at codon 72 of the TP53 tumour-suppressor gene has been investigated as a genetic cofactor.
|
19625214 |
2009 |
|
rs1042522
|
|
|
0.100 |
GeneticVariation |
BEFREE |
There have been inconsistent reports regarding increased risk of POAG and a polymorphism (Arg72Pro) within the tumor suppressor gene, p53.
|
19784392 |
2009 |
|
rs1042522
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Tissue culture and mouse model studies show that the presence of the arginine (R) or proline (P) coding single nucleotide polymorphism (SNP) of the tumor suppressor gene p53 at codon 72 (p53 R72P) differentially affects the responses to genotoxic insult.
|
28594296 |
2017 |
|
rs1042522
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The germ-line polymorphisms TP53 Arg72Pro and MDM2 SNP309 T>G are risk factors for tumor development and affect response to chemotherapy and survival in several cancers, but their prognostic and predictive value in patients with high-grade osteosarcomas is not yet defined.
|
19451596 |
2009 |