Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs780673045
rs780673045
0.020 GeneticVariation BEFREE The prevalence of these alterations, in conjunction with the reported inactivation of RB in up to 80% of cases, suggests that genetic lesions deregulating the G1 to S cell cycle checkpoint may be an almost constant feature in the pathogenesis of osteosarcoma. 9935200

1999

dbSNP: rs876660254
rs876660254
0.010 GeneticVariation BEFREE Using a series of tumorigenic and non-tumorigenic somatic cell hybrids that resulted from the fusion of the human osteosarcoma cell line OHS50-P16T (P16T) with the HeLa cell line D98OR, we investigated the role that genetic mutations, including alterations of oncogenes, tumor suppressor genes, and chromosomes, play in P16T tumorigenicity. 10331742

1999

dbSNP: rs764146326
rs764146326
0.010 GeneticVariation BEFREE We used two human head and neck cancer cell lines harboring mutated p53 gene, HSG (Asn30Ser) and TYS (Asp281His), and a human osteosarcoma cell line, Saos-2 as a control. 12527938

2003

dbSNP: rs780673045
rs780673045
0.020 GeneticVariation BEFREE As a whole, 11 of 29 (38%) analyzed OS presented alterations in some of the analyzed G1 to S-phase checkpoint genes. 15167009

2004

dbSNP: rs79184941
rs79184941
0.010 GeneticVariation BEFREE Stable clones of the human MG63 osteosarcoma cells (MG63-Ap and MG63-IIIc) overexpressing a splice variant form of FGFR2 with or without the S252W mutation (FGFR2IIIcS252W and FGFR2IIIc) showed a higher RUNX2 mRNA expression than parental MG63 cells. 15310757

2004

dbSNP: rs28934578
rs28934578
0.010 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

dbSNP: rs1042522
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

dbSNP: rs1131691014
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

dbSNP: rs878854066
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

dbSNP: rs1642785
rs1642785
0.010 GeneticVariation BEFREE The recessive model suggested an increased risk of OS when two copies of TP53-34 C>G variant (IVS2+38, rs1642785) were present, P = 0.041, odds ratio (OR) 6.70 (95% confidence interval [CI] 1.06-41.6). 17096406

2007

dbSNP: rs199476133
rs199476133
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
0.010 GeneticVariation BEFREE In order to identify genes whose expression is altered as a result of the presence of mtDNA mutations, DNA microarray analysis was performed using human 143B osteosarcoma cells harboring 3243A>G [tRNA-Leu (UUR)] and 8993T>G [ATPase6 Leu156Arg] mtDNA mutations associated with MELAS and NARP syndromes (2SD and NARP3-1 cybrid cells), respectively. 17276738

2007

dbSNP: rs28934576
rs28934576
0.020 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

dbSNP: rs56149945
rs56149945
0.010 GeneticVariation BEFREE The objective of this study was to address the biological relevancy of N363S SNP in GR function by establishing stable U-2 OS (human osteosarcoma) cell lines expressing wild-type hGR or N363S and examining these receptors under a variety of conditions that probe for GR activity including human gene microarray analysis. 17535992

2007

dbSNP: rs59267781
rs59267781
0.010 GeneticVariation BEFREE We describe in this report the rare association of osteosarcoma and slowly progressing progeria in an 11-year-old girl carrying a truncating heterozygous c.1868C > G (p.T623S) prelamin A mutation. 17618517

2007

dbSNP: rs998074
rs998074
0.010 GeneticVariation BEFREE IGF2R Ex16+88G>A (rs998075) and IVS16+15C>T (rs998074) SNPs were associated with increased risk for osteosarcoma compared with orthopedic controls (haplotype odds ratio, 2.04; 95% confidence interval, 1.29-3.24). 17684144

2007

dbSNP: rs998075
rs998075
0.010 GeneticVariation BEFREE IGF2R Ex16+88G>A (rs998075) and IVS16+15C>T (rs998074) SNPs were associated with increased risk for osteosarcoma compared with orthopedic controls (haplotype odds ratio, 2.04; 95% confidence interval, 1.29-3.24). 17684144

2007

dbSNP: rs1223868338
rs1223868338
0.010 GeneticVariation BEFREE This study suggests an association between the Fas exon 3 A>G polymorphism and osteosarcoma risk; however, further study is needed with pediatric controls and a larger sample size. 18090928

2007

dbSNP: rs1217691063
rs1217691063
0.010 GeneticVariation BEFREE The MTHFR C677T polymorphism may not be important in an individual's susceptibility to osteosarcoma and chondrosarcoma in Turkey and may not be a useful marker for identifying patients at high risk of developing sarcomas. 18498722

2008

dbSNP: rs1060501205
rs1060501205
0.010 GeneticVariation BEFREE She was found to have a base pair change (A-->C) at nucleotide 394 resulting in a lysine to glutamine amino acid change at codon 132 (K132Q), which remarkably has never been described in association with either adrenocortical carcinoma or osteosarcoma. 18989156

2008

dbSNP: rs747342068
rs747342068
0.010 GeneticVariation BEFREE She was found to have a base pair change (A-->C) at nucleotide 394 resulting in a lysine to glutamine amino acid change at codon 132 (K132Q), which remarkably has never been described in association with either adrenocortical carcinoma or osteosarcoma. 18989156

2008

dbSNP: rs368933511
rs368933511
0.010 GeneticVariation BEFREE Samples from three of five sporadic pagetic osteosarcoma patients had the SQSTM1(C1215T) mutation, whereas the normal adjacent tissue from two of these tumors clearly lacked the mutation, again indicating an occurrence of somatic events. 19016598

2009

dbSNP: rs368087026
rs368087026
0.010 GeneticVariation BEFREE Patients with osteosarcoma with G3/G4 hematologic toxicity were more frequently TT than CT/CC for C677T/MTHFR (P = .023) and GG for A2756G/MTR (P = .048 and P = .057 for gastrointestinal and hematologic toxicity, respectively). 19159907

2009

dbSNP: rs1042522
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

dbSNP: rs1131691014
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

dbSNP: rs878854066
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