|
rs1057519992
|
|
|
0.020 |
GeneticVariation |
BEFREE |
One tumor had an arginine to histidine substitution at position 175, and one tumor had a glycine to aspartic acid substitution at position 245.
|
1913660 |
1991 |
|
rs587778720
|
|
|
0.010 |
GeneticVariation |
BEFREE |
One tumor showed a G to C transversion at p53 codon 213 (arginine to proline), and another showed deletion of the entire gene.
|
1559227 |
1992 |
|
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 |
|
rs1057520001
|
|
|
0.010 |
GeneticVariation |
BEFREE |
No point mutation but a codon 31ser-->arg polymorphism of the WAF-1/CIP-1/p21 tumor suppressor gene in nasopharyngeal carcinoma (NPC): the polymorphism distinguishes Caucasians from Chinese.
|
7606201 |
1995 |
|
rs886039484
|
|
|
0.010 |
GeneticVariation |
BEFREE |
No point mutation but a codon 31ser-->arg polymorphism of the WAF-1/CIP-1/p21 tumor suppressor gene in nasopharyngeal carcinoma (NPC): the polymorphism distinguishes Caucasians from Chinese.
|
7606201 |
1995 |
|
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 |
|
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
|
|
T |
0.780 |
GeneticVariation |
CLINVAR |
Role of the p53-homologue p73 in E2F1-induced apoptosis.
|
11101847 |
2000 |
|
rs587780070
|
|
|
0.010 |
GeneticVariation |
BEFREE |
One of the earliest genetic aberrations is a missense mutation of codon 179 (His179Asn) in the tumor suppressor gene TP53 leading to outgrowth of a cell type expressing only the mutant form of TP53.
|
10616528 |
2000 |
|
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 |
|
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 |
|
rs121912664
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In conclusion, the germ line Arg337His mutation of p53 protein is present at a high frequency (77.7%) in children with benign or malignant sporadic adrenocortical tumors, but it is not restricted to the pediatric group, since 13.5% of adults with adrenocortical tumors also had this mutation.
|
11600572 |
2001 |
|
rs28934571
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Our data revealed a relationship between chromosome 16q homozygous deletions and R249S</span> p53 mutations in tumors where the patient had been exposed to aflatoxin B1 (P=0.002).
|
11526514 |
2001 |
|
rs371409680
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Functional analysis of the p53 alleles present in the patient's tumor indicated that the germ-line p53(R283H) could transactivate the CDKN1A((p21, WAF1, cip1, SDI1)) but not the BAX gene and retained the ability to induce growth arrest of human glioblastoma cells.
|
12019170 |
2002 |
|
rs1555526711
|
|
|
0.010 |
GeneticVariation |
BEFREE |
One tumour with a single base deletion in the N-terminus (codon 8) of the CDKN2A/p16(INK4a) gene carried a novel germ-line mutation or a rare polymorphism (Ile51Met) in exon 2 of the CDK4 gene.
|
11960918 |
2002 |
|
rs869054324
|
|
|
0.010 |
GeneticVariation |
BEFREE |
One tumour with a single base deletion in the N-terminus (codon 8) of the CDKN2A/p16(INK4a) gene carried a novel germ-line mutation or a rare polymorphism (Ile51Met) in exon 2 of the CDK4 gene.
|
11960918 |
2002 |
|
rs1042522
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We identified the presence of LOH at 17p13 and Pro72Arg polymorphism in tumor DNA.
|
12684657 |
2003 |
|
rs1131691014
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We identified the presence of LOH at 17p13 and Pro72Arg polymorphism in tumor DNA.
|
12684657 |
2003 |
|
rs878854066
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We identified the presence of LOH at 17p13 and Pro72Arg polymorphism in tumor DNA.
|
12684657 |
2003 |
|
rs751477326
|
|
|
0.010 |
GeneticVariation |
BEFREE |
There was no difference between cases with and without histologically proven nodal disease with regard to integration status of HPV-16 DNA in the primary tumour (integrated 90.9% vs 71.4%, episomal 9.1% vs 21.4%, mixed 0% vs 7.1%) and p53 codon 72 polymorphism (Arg/Arg 54.5% vs 67.9%, Pro/Pro 0 vs 7.1%, Arg/Pro 45.5% vs 21.4%).
|
12618167 |
2003 |
|
rs121912664
|
|
|
0.100 |
GeneticVariation |
BEFREE |
An identical haplotype for p53 locus was also identified in 95% of the apparently unrelated Brazilian patients with adrenocortical tumors carrying the R337H mutation.
|
15761534 |
2004 |
|
rs776167460
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the tumor carrying G40S, other somatic hMSH2 mutations, G203R and 687delA in the (A)(7) repeat, and 5 one-bp deletions in the target genes were found, while no mutation in the p53 and K-ras genes.
|
12792735 |
2004 |
|
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 |
|
rs1131691014
|
|
|
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 |
|
rs121912664
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The R337H p53 mutation was inherited from one of the parents of the patients, and there was no association between the presence of this mutation and tumor malignancy in children.
|
15952083 |
2005 |