Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1906953
rs1906953
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.820 GeneticVariation BEFREE Survival analysis for rs1906953 showed that the median survival time of osteosarcoma patients with the CC genotype was significantly shorter compared to the CT and TT genotypes; patients carrying CC genotype have apparently got a decrease in their recurrence-free survival time in comparison with patients carrying TT genotype. 26276359

2016

dbSNP: rs1906953
rs1906953
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.820 GeneticVariation BEFREE Further analysis showed the association between rs1906953 and OS was independent of gender and age. 24984297

2014

dbSNP: rs17206779
rs17206779
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.810 GeneticVariation BEFREE In earlier genome-wide association studies, rs7591996, rs10208273, rs17206779 and rs1906953 were identified as candidate loci for OS in Caucasians but the association of these single-nucleotide polymorphisms (SNPs) with OS in a Chinese Han population remains unknown. 24984297

2014

dbSNP: rs7591996
rs7591996
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.810 GeneticVariation BEFREE In earlier genome-wide association studies, rs7591996, rs10208273, rs17206779 and rs1906953 were identified as candidate loci for OS in Caucasians but the association of these single-nucleotide polymorphisms (SNPs) with OS in a Chinese Han population remains unknown. 24984297

2014

dbSNP: rs28934576
rs28934576
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
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

dbSNP: rs28934576
rs28934576
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
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

dbSNP: rs7034162
rs7034162
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.720 GeneticVariation BEFREE Single-nucleotide polymorphism rs7034162 was associated with metastasis of osteosarcoma in the Chinese population possibly via downregulation of <i>NFIB</i>. 31522615

2019

dbSNP: rs7034162
rs7034162
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.720 GeneticVariation BEFREE We identified an SNP, rs7034162, in NFIB significantly associated with metastasis in European osteosarcoma cases, as well as in cases of African and Brazilian ancestry (meta-analysis of all cases: P = 1.2 × 10(-9); OR, 2.43; 95% confidence interval, 1.83-3.24). 26084801

2015

dbSNP: rs10208273
rs10208273
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.710 GeneticVariation BEFREE In earlier genome-wide association studies, rs7591996, rs10208273, rs17206779 and rs1906953 were identified as candidate loci for OS in Caucasians but the association of these single-nucleotide polymorphisms (SNPs) with OS in a Chinese Han population remains unknown. 24984297

2014

dbSNP: rs28934578
rs28934578
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
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

dbSNP: rs11615
rs11615
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.100 GeneticVariation BEFREE ERCC1 (C118T (rs11615) and C8092A (rs3212986)) and ERCC2 (A751C (rs171140) and G312A (rs1799793)) polymorphisms were analysed in 44 patients with osteosarcoma, who were treated with cisplatin based neoadjuvant chemotherapy. 29980176

2018

dbSNP: rs11615
rs11615
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.100 GeneticVariation BEFREE In addition, no evidence of association was observed between prognosis in osteosarcoma and <i>ERCC1</i> rs11615, <i>ERCC1</i> rs3212986, <i>ERCC1</i> rs2298881, <i>ERCC2</i> rs13181, <i>ERCC4</i> rs1800067, and <i>ERCC5</i> rs1047768 polymorphisms. 29950854

2018

dbSNP: rs11615
rs11615
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.100 GeneticVariation BEFREE The ERCC2-rs1799793 AA+AC > CC (OR=1.3428, 95% CI=1.0201; 1.7674) had an effect on the risk of osteosarcoma development, whereas, there were no significant associations among the other ERCC SNPs (ERCC1 rs3212986, ERCC1 rs11615, and ERCC2 rs13181) and osteosarcoma. 30402838

2018

dbSNP: rs11615
rs11615
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.100 GeneticVariation BEFREE Haplotype containing the rs1799793-T and rs11615-T alleles was associated with a statistically increased osteosarcoma risk, OR (95% CI) = 1.47 (1.12-1.92). 28474168

2017

dbSNP: rs11615
rs11615
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.100 GeneticVariation BEFREE This suggests rs11615 may be a useful genetic marker for predicting osteosarcoma prognosis. 28977987

2017

dbSNP: rs11615
rs11615
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.100 GeneticVariation BEFREE In conclusion, our results suggest that the ERCC1 rs11615 polymorphism might influence the response to cisplatin-based chemotherapy and affect the clinical outcome for osteosarcoma patients. 26400354

2015

dbSNP: rs11615
rs11615
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.100 GeneticVariation BEFREE In summary, our results suggested that the ERCC1 rs11615 and rs2298881 polymorphisms play important roles in the response to chemotherapy mediated by the DNA repair pathway and in the clinical outcome of osteosarcoma. 26345951

2015

dbSNP: rs11615
rs11615
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.100 GeneticVariation BEFREE In the Cox proportional hazards model, after adjusting for potential confounding factors, we found that individuals carrying CC genotype of ERCC1 rs11615 was associated with decreased risk of death from osteosarcoma, and the HR (95% CI) was 0.43 (0.15-0.93). 25755792

2015

dbSNP: rs11615
rs11615
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.100 GeneticVariation BEFREE In conclusion, our results suggest that ERCC1 rs11615 and ERCC2 rs1799793 may be useful genetic prognostic markers for osteosarcoma in a Chinese population. 26436406

2015

dbSNP: rs11615
rs11615
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.100 GeneticVariation BEFREE In conclusion, our findings suggest that ERCC1 rs11615 and ERCC1 rs2298881 genetic polymorphisms are significantly associated with poor response to chemotherapy and unfavourable survival of osteosarcoma. 26339355

2015

dbSNP: rs11615
rs11615
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.100 GeneticVariation BEFREE Excision repair cross-complementing (ERCC) group 2 (XPD; rs13181 and rs1799793), group 5 (XPG; rs17655) and group 1 (XPA; rs3212986 and rs11615) polymorphisms were analyzed in a group of 130 homogenously treated patients with high-grade osteosarcoma, for association with event-free survival (EFS), using the Kaplan-Meier plots and log-rank test. 21826087

2012

dbSNP: rs1799793
rs1799793
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.100 GeneticVariation BEFREE In the present meta-analysis, we demonstrated that the homozygous variant genotypes in <i>ERCC2</i> rs1799793 and <i>ERCC5</i> rs2296147 were significantly associated with OS in osteosarcoma (TT vs GG for rs1799793: HR = 0.62, 95% CI = 0.41-0.93, <i>P</i><sub>heterogeneity</sub> = 0.310, <i>I</i><sup>2</sup> = 15.3%, <i>P</i> = 0.020; TT vs CC for rs2296147: HR = 0.42, 95% CI = 0.23-0.78, <i>P</i><sub>heterogeneity</sub> = 0.708, <i>I</i><sup>2</sup> = 0.0%, <i>P</i> = 0.006). 29950854

2018

dbSNP: rs1799793
rs1799793
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.100 GeneticVariation BEFREE ERCC1 (C118T (rs11615) and C8092A (rs3212986)) and ERCC2 (A751C (rs171140) and G312A (rs1799793)) polymorphisms were analysed in 44 patients with osteosarcoma, who were treated with cisplatin based neoadjuvant chemotherapy. 29980176

2018

dbSNP: rs1799793
rs1799793
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.100 GeneticVariation BEFREE The ERCC2 rs1799793 polymorphism is related to the high risk of osteosarcoma development. 30402838

2018

dbSNP: rs1799793
rs1799793
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.100 GeneticVariation BEFREE This study did not support rs11615, rs13181 or rs1799793 to be used as surrogate markers for clinical outcome of osteosarcoma with chemotherapy. 30544402

2018