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rs28934576
|
|
|
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 |
|
rs28934576
|
|
|
0.720 |
GeneticVariation |
BEFREE |
On the other hand, transfection of p53-R273H into p53 null human osteosarcoma Saos-2 cells down-regulated procaspase-3 level and induced resistance to the drug toxicity and drug-induced apoptosis.
|
17363498 |
2007 |
|
rs28934576
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
|
|
|
|
rs28934578
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Transfection of mutant p53 (R175H) to p53-null osteosarcoma Saos-2 cells suppressed apoptosis induced by doxorubicin (DOX), cisplatin and gamma radiation.
|
15578696 |
2005 |
|
rs28934578
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1131691003
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1131691042
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs11540652
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs28934573
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs55832599
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs763098116
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
|
rs863223301
|
|
GCCATGGC |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1042522
|
|
|
0.040 |
GeneticVariation |
BEFREE |
In the present meta-analysis, we aimed to elucidate the associations of TP53 rs1042522 genetic polymorphism with the risk of osteosarcoma or Ewing sarcoma.
|
30833364 |
2019 |
|
rs1042522
|
|
|
0.040 |
GeneticVariation |
BEFREE |
We found that subjects carrying rs12951053 CC genotype and rs1042522</span> GG genotype were significantly associated with risk of OS [odds ratio (OR)=1.68, 95% confidence intervals (CI): 1.05-2.68; OR=1.89, 95% CI: 1.16-3.07] compared with subjects carrying the common genotypes.
|
26045840 |
2015 |
|
rs1042522
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The study provides evidence supporting the association of MDM2 SNP309 with high-grade osteosarcoma risk in females and shows that TP53 Arg72Pro has a prognostic value for overall survival and EFS in osteosarcoma patients.
|
19451596 |
2009 |
|
rs1042522
|
|
|
0.040 |
GeneticVariation |
BEFREE |
These data do not indicate a strong link between variation in TP53 and OS risk, although they provide preliminary evidence of an increased risk of OS associated with variants at IVS2+38 and Pro72Arg.
|
17096406 |
2007 |
|
rs121912664
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The current findings demonstrated compellingly that the TP53 R337H mutation is associated not only with ACT but also with CPC and, to a lesser extent, with osteosarcoma, both of which are core-component tumors of the Li-Fraumeni syndrome.
|
21192060 |
2011 |
|
rs1131691014
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The study provides evidence supporting the association of MDM2 SNP309 with high-grade osteosarcoma risk in females and shows that TP53 Arg72Pro has a prognostic value for overall survival and EFS in osteosarcoma patients.
|
19451596 |
2009 |
|
rs121912664
|
|
|
0.020 |
GeneticVariation |
BEFREE |
R337H has been identified in Brazilian families with Li-Fraumeni or related syndromes predisposing to cancers in childhood (ie, brain, renal, and adrenocortical carcinomas), adolescence (ie, soft tissue and bone sarcomas), and young adulthood (ie, breast cancer).
|
19717094 |
2009 |
|
rs878854066
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The study provides evidence supporting the association of MDM2 SNP309 with high-grade osteosarcoma risk in females and shows that TP53 Arg72Pro has a prognostic value for overall survival and EFS in osteosarcoma patients.
|
19451596 |
2009 |
|
rs1131691014
|
|
|
0.020 |
GeneticVariation |
BEFREE |
These data do not indicate a strong link between variation in TP53 and OS risk, although they provide preliminary evidence of an increased risk of OS associated with variants at IVS2+38 and Pro72Arg.
|
17096406 |
2007 |
|
rs878854066
|
|
|
0.020 |
GeneticVariation |
BEFREE |
These data do not indicate a strong link between variation in TP53 and OS risk, although they provide preliminary evidence of an increased risk of OS associated with variants at IVS2+38 and Pro72Arg.
|
17096406 |
2007 |
|
rs12602273
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Results of haplotype analysis also showed that A-G-G-A-C haplotype (rs12951053, rs1042522, rs8064946, rs9895829 and rs12602273) conferred significant decreased risk of OS (OR=0.37, 95% CI: 0.19-0.72) compared with A-C-G-A-C haplotype.
|
26045840 |
2015 |
|
rs12951053
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found that subjects carrying rs12951053 CC genotype and rs1042522 GG genotype were significantly associated with risk of OS [odds ratio (OR)=1.68, 95% confidence intervals (CI): 1.05-2.68; OR=1.89, 95% CI: 1.16-3.07] compared with subjects carrying the common genotypes.
|
26045840 |
2015 |
|
rs1800372
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified a novel association between a TP53 rare variant and metastasis at diagnosis of osteosarcoma (rs1800372, odds ratio = 4.27, 95% confidence interval = 1.2 to 15.5, P = .026).
|
25896519 |
2015 |