Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1799793
rs1799793
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
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
0.100 GeneticVariation BEFREE The ERCC2 rs1799793 polymorphism is related to the high risk of osteosarcoma development. 30402838

2018

dbSNP: rs1799793
rs1799793
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

dbSNP: rs1799793
rs1799793
0.100 GeneticVariation BEFREE Our meta-analysis included eleven studies in which four SNPs (ERCC1 rs11615 and rs3212986, ERCC2 rs13181 and rs1799793) reportedly associated with osteosarcoma prognosis were investigated. 28977987

2017

dbSNP: rs1799793
rs1799793
0.100 GeneticVariation BEFREE Participants rs1799793-GT or -TT and rs4150441-GA or -AA genotype have the highest osteosarcoma risk, compared to subjects with rs1799793-GG and rs4150441-GG genotype, OR (95% CI) = 2.87 (1.21-4.63), after covariates adjustment. 28474168

2017

dbSNP: rs1799793
rs1799793
0.100 GeneticVariation BEFREE Multivariate logistic regression analysis did not reveal significant associations between ERCC2 rs13181/rs1799793 or ERCC3 rs4150441/ rs4150506 gene polymorphisms and the development of osteosarcoma in codominant, dominant, and recessive models. 27051024

2016

dbSNP: rs1799793
rs1799793
0.100 GeneticVariation BEFREE In conclusion, our study found that the ERCC2 Asn312Asp gene polymorphism likely plays an important role in influencing the chemotherapy response and overall survival of patients with osteosarcoma. 26505449

2015

dbSNP: rs1799793
rs1799793
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: rs1799793
rs1799793
0.100 GeneticVariation BEFREE In addition, there is no evidence of association on ERCC1 Asn118Asn, ERCC1 Gln504Lys, and ERCC2 Asp312Asn polymorphisms with prognosis in osteosarcoma. 25023406

2014

dbSNP: rs1799793
rs1799793
0.100 GeneticVariation BEFREE This study suggests that XPD rs1799793 could be a marker of os</span>teosarcoma associated with features conferring either a better prognosis or a better outcome after platinum therapy, or both. 21826087

2012

dbSNP: rs1799793
rs1799793
0.100 GeneticVariation 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

dbSNP: rs13181
rs13181
0.080 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: rs13181
rs13181
0.080 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

dbSNP: rs13181
rs13181
0.080 GeneticVariation BEFREE Our meta-analysis included eleven studies in which four SNPs (ERCC1 rs11615 and rs3212986, ERCC2 rs13181 and rs1799793) reportedly associated with osteosarcoma prognosis were investigated. 28977987

2017

dbSNP: rs13181
rs13181
0.080 GeneticVariation BEFREE Multivariate logistic regression analysis did not reveal significant associations between ERCC2 rs13181/rs1799793 or ERCC3 rs4150441/ rs4150506 gene polymorphisms and the development of osteosarcoma in codominant, dominant, and recessive models. 27051024

2016

dbSNP: rs13181
rs13181
0.080 GeneticVariation BEFREE Through quantitative analysis, the meta-analysis showed that ERCC2 Lys751Gln (ORGG vs. AA = 0.40 (95%CI = 0.1-0.86), P heterogeneity = 0.502; I (2) = 0 %) and ERCC5 His46His (ORCC vs. TT = 0.37 (95%CI = 0.15-0.93), P heterogeneity = 0.569; I (2) = 0 %) polymorphisms might influence the prognosis of patients with osteosarcoma [1]. 25824708

2015

dbSNP: rs13181
rs13181
0.080 GeneticVariation BEFREE In summary, the ERCC2 Lys751Gln and ERCC5 His46His polymorphisms might influence osteosarcoma prognosis. 25023406

2014

dbSNP: rs13181
rs13181
0.080 GeneticVariation BEFREE Our study indicated that GSTP1 and ERCC2 Lys751Gln polymorphisms might be candidate pharmacogenomic factors to be explored in the future to identify osteosarcoma patients who might benefit from chemotherapy. 23317281

2012

dbSNP: rs13181
rs13181
0.080 GeneticVariation 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

dbSNP: rs171140
rs171140
0.010 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: rs756340448
rs756340448
0.010 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