Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7157
Gene Symbol: TP53
TP53
0.100 GeneticVariation disease BEFREE Exogenously introduced wild-type and mutant p53 have recently been reported to enhance the human epidermal growth factor receptor (EGF-R) gene promoter activity in p53-deficient Saos2 osteosarcoma cells. 9285564 1997
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
0.100 GeneticVariation disease BEFREE To analyze the genetic and epigenetic alterations affecting the RB1, TP53, p16INK4, and p21WAF1 tumor suppressor genes, loss of heterozygosity (LOH) at 3q and 18q, and the clinical variables of a series of Spanish children with osteosarcoma. 12759621 2003
Entrez Id: 7157
Gene Symbol: TP53
TP53
0.100 GeneticVariation disease BEFREE These models were originally based on the frequent disruption of p53 and Rb in familial OS syndromes, which are also common mutations in sporadic OS. 29236321 2018
Entrez Id: 9401
Gene Symbol: RECQL4
RECQL4
0.100 GeneticVariation disease BEFREE Patients with Rothmund-Thomson syndrome (RTS) and RECQL4 gene mutations have an increased risk of developing osteosarcoma (OS). 17264332 2007
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
0.100 GeneticVariation disease BEFREE For the molecular analysis, genetic polymorphisms of the VDR (Fok I, Apa I, and TaqI), ER (Pvu II and XbaI), and COLIalpha1 (Msc I) genes were characterized in 72 osteosarcoma and 53 Ewing sarcomas and in a group of 143 healthy matched children. 14528100 2003
Entrez Id: 7157
Gene Symbol: TP53
TP53
0.100 GeneticVariation disease BEFREE Screening of 288 OS and 1,090 tumors of other types revealed evidence for TP53 rearrangements in 46 (16%) OS, while none were detected in other tumor types, indicating this rearrangement to be highly specific to OS. 25762628 2015
Entrez Id: 7157
Gene Symbol: TP53
TP53
0.100 GeneticVariation disease 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
Entrez Id: 3569
Gene Symbol: IL6
IL6
0.100 GeneticVariation disease BEFREE IL-6 174G/C polymorphism was obviously associated with OS risk in Asians, while TNF-α 238G/A polymorphism seemed to be associated with the decreased susceptibility to OS in Caucasians as Altman and Bland test indicated. 29228633 2017
Entrez Id: 7157
Gene Symbol: TP53
TP53
0.100 GeneticVariation disease BEFREE The event-free survival (EFS) was worse in Ewing sarcoma patients with p16INK4 and p14ARF mutation/deletion than in those without the mutation/deletion (P = 0.019), and EFS was worse in osteosarcoma patients with TP53 alterations than in those without TP53 alterations (P = 0.048). 10942797 2000
Entrez Id: 3553
Gene Symbol: IL1B
IL1B
0.100 GeneticVariation disease BEFREE The aim of this study was to investigate the association between IL-1B gene polymorphisms and osteosarcoma risk in Chinese Han patients. 24878968 2014
Entrez Id: 7157
Gene Symbol: TP53
TP53
0.100 GeneticVariation disease BEFREE This study warrants a future evaluation of this formulation for gene silencing efficiency of mutant p53 in tissue culture and animal models for the treatment of osteosarcoma. 28636657 2017
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.100 GeneticVariation disease BEFREE However, there has been no report of osteosarcoma associated with pseudohypoparathyroidism type 1b (PHP1b), which is accompanied by high PTH. 27859596 2017
Entrez Id: 7157
Gene Symbol: TP53
TP53
0.100 GeneticVariation disease BEFREE Germline p53 mutation in a Micronesian child with adrenocortical carcinoma and subsequent osteosarcoma. 18989156 2008
Entrez Id: 7157
Gene Symbol: TP53
TP53
0.100 GeneticVariation disease BEFREE To analyze the genetic and epigenetic alterations affecting the RB1, TP53, p16INK4, and p21WAF1 tumor suppressor genes, loss of heterozygosity (LOH) at 3q and 18q, and the clinical variables of a series of Spanish children with osteosarcoma. 12759621 2003
Entrez Id: 7157
Gene Symbol: TP53
TP53
0.100 GeneticVariation disease BEFREE The quantitative synthesis of 8 published studies showed that TP53 mutations were associated with 2-year overall survival in osteosarcoma patients. 27239089 2016
Entrez Id: 7157
Gene Symbol: TP53
TP53
0.100 GeneticVariation disease BEFREE The tumors in Ptprz1-deficient Trp53-heterozygous mice were present in different locations (spine, long bones, ribs), and their OS nature was confirmed by undecalcified histology. 26360410 2015
Entrez Id: 7157
Gene Symbol: TP53
TP53
0.100 GeneticVariation disease BEFREE Overexpression of COPS3 has been linked to TP53 protein degradation and, being equivalent to TP53 mutation, the induction of genomic instability, which frequently occurs in high-grade osteosarcoma. 15325100 2004
Entrez Id: 4193
Gene Symbol: MDM2
MDM2
0.100 GeneticVariation disease BEFREE Results from this study indicated that the allele-A and genotype-AA of MDM2 c.346G>A genetic variant could be an increased risk factor for the susceptibility to osteosarcoma and might be used as a potential molecular marker for evaluating the risk of osteosarcoma. 25551700 2015
Entrez Id: 7157
Gene Symbol: TP53
TP53
0.100 GeneticVariation disease BEFREE COPS3 amplification and P53 mutation frequently occurred in the same tumors, suggesting that these are not mutually exclusive events in osteosarcoma. 17366602 2007
Entrez Id: 7157
Gene Symbol: TP53
TP53
0.100 GeneticVariation disease BEFREE In this study, we tested the oligomerization of p53 with mutations in the oligomerization domain, when expressed in a human osteosarcoma cell line, Saos-2, in vivo. 9125151 1997
Entrez Id: 7124
Gene Symbol: TNF
TNF
0.100 GeneticVariation disease BEFREE These data indicated that IL-1Ra, IL-6, IL-8, and TNF-α were associated with increased risk of OS, in which IL-8 and TNF-α may be further correlated with the progression of this disease. 23999825 2014
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
0.100 GeneticVariation disease BEFREE We found that the T allele of ERCC2-rs1799793 and the A allele of ERCC3-rs4150441, interaction between rs1799793 and rs4150441, and haplotype containing the rs1799793T and rs11615-T alleles were all associated with increased osteosarcoma risk. 28474168 2017
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
0.100 GeneticVariation disease BEFREE We first report associations of four SNPs, ERCC1 Asn118Asn, ERCC1 Gln504Lys, ERCC2 Asp312Asn and ERCC2 Lys751Gln, with risk of death from osteosarcoma in a Chinese population, indicating ERCC1 118T/T and ERCC2 A/A may be used as surrogate markers for clinical outcome of osteosarcoma treatment with cisplatin. 23098477 2012
Entrez Id: 7157
Gene Symbol: TP53
TP53
0.100 GeneticVariation disease BEFREE To address the role of p53 mutations in the development and progression of osteosarcoma, the authors analyzed specimens from 247 patients with primary localized osteosarcomas and 25 patients with osteosarcomas that were metastatic at the time of diagnosis. 11596036 2001
Entrez Id: 7157
Gene Symbol: TP53
TP53
0.100 GeneticVariation disease BEFREE Here, we established patient-derived iPSCs from a Li-Fraumeni syndrome (LFS) family and investigated the role of mutant p53 in the development of osteosarcoma (OS). 25860607 2015