Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs13181
rs13181
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.800 GeneticVariation BEFREE We investigated the relationship between polymorphisms in two NER genes, XPC (poly (AT) insertion/deletion: PAT-/+) and XPD (Asp312Asn and Lys751Gln), the BER gene XRCC1 (Arg399Gln), and the DSBR gene XRCC3 (Thr241Met) and the risk of developing lung cancer. 17705814

2007

dbSNP: rs13181
rs13181
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.800 GeneticVariation BEFREE These associations were: two SNPs rs1799793 and rs13181 in the ERCC2 gene and lung cancer (recessive model) and rs1805794 in the NBN gene and bladder cancer (dominant model). 21864546

2012

dbSNP: rs759412116
rs759412116
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.100 GeneticVariation BEFREE In the present study, we investigated the polymorphisms of following selected DNA repair genes: XPC (Lys939Gln), XPD (Lys751Gln), hOGG1 (Ser326Cys) and XRCC1 (Arg399Gln), and the risks they present towards the development of lung cancer with the emphasis to gender differences within the Slovak population. 23673479

2013

dbSNP: rs759412116
rs759412116
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.100 GeneticVariation BEFREE Several polymorphisms in DNA repair genes have been reported to be associated with lung cancer risk including XPA (-4G/A), XPD (Lys751Gln and Asp312Asn), XRCC1 (Arg399Gln), APE1 (Asp148Glu) and XRCC3 (Thr241Met). 15333465

2004

dbSNP: rs759412116
rs759412116
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.100 GeneticVariation BEFREE These findings suggest that genetic polymorphisms in the DNA repair genes may modulate overall lung cancer susceptibility and that pathological stage and XRCC1 Arg399Gln independently predicted overall survival among Indian lung cancer patients. 17952468

2008

dbSNP: rs759412116
rs759412116
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.100 GeneticVariation BEFREE In the present study, we investigated the polymorphisms of the following selected members of the base and nucleotide excision repair genes: XPC (Lys939Gln), XPD (Lys751Gln), XRCC1(Arg399Gln), and hOGG1(Ser326Ser), and the risk they present toward the development of lung cancer, with emphasis on the effect of chromium exposure. 25300687

2015

dbSNP: rs759412116
rs759412116
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.100 GeneticVariation BEFREE We here analyzed associations of XPD Lys751Gln, APEX1 Asp148Glu, XRCC1 Arg399Gln, and XRCC3 Thr241Met gene polymorphisms in DNA repair pathways in relation to the risk of lung cancer using PCR-RFLP. 21198260

2010

dbSNP: rs759412116
rs759412116
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.100 GeneticVariation BEFREE Prospective assessment of XPD Lys751Gln and XRCC1 Arg399Gln single nucleotide polymorphisms in lung cancer. 17504986

2007

dbSNP: rs759412116
rs759412116
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.100 GeneticVariation BEFREE In this case-control study of 1091 Caucasian lung cancer patients and 1240 controls, we explored the gene-environment interactions between the XRCC1 Arg399Gln polymorphism, alone or in combination with the two ERCC2 polymorphisms, and cumulative smoking exposure in the development of lung cancer. 12692111

2003

dbSNP: rs759412116
rs759412116
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.100 GeneticVariation BEFREE In conclusion, the APE1 Asp148Glu polymorphism is highly predictive for lung cancer, and cumulative cigarette smoking modifies the associations between the XRCC1 Arg399Gln and the XPD Lys751Gln polymorphisms and lung cancer risk. 17531525

2007

dbSNP: rs759412116
rs759412116
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.100 GeneticVariation BEFREE We investigated the relationship between polymorphisms in two NER genes, XPC (poly (AT) insertion/deletion: PAT-/+) and XPD (Asp312Asn and Lys751Gln), the BER gene XRCC1 (Arg399Gln), and the DSBR gene XRCC3 (Thr241Met) and the risk of developing lung cancer. 17705814

2007

dbSNP: rs759412116
rs759412116
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.100 GeneticVariation BEFREE This study aimed to explore the role of XRCC1 (Arg399Gln) and XPD (Lys751Gln) gene polymorphisms, lifestyle and environmental factors as well as their possible interactions in propensity to develop lung cancer in a population with high incidence from North East India. 24716924

2014

dbSNP: rs1799793
rs1799793
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.100 GeneticVariation BEFREE These associations were: two SNPs rs1799793 and rs13181 in the ERCC2 gene and lung cancer (recessive model) and rs1805794 in the NBN gene and bladder cancer (dominant model). 21864546

2012

dbSNP: rs1799793
rs1799793
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.100 GeneticVariation BEFREE We therefore examined XPD polymorphisms at Lys751Gln and Asp312Asn in 341 white lung cancer cases and 360 age-, sex-, ethnicity-, and smoking-matched controls accrued in a hospital-based molecular epidemiological study of susceptibility markers for lung cancer. 11245433

2001

dbSNP: rs1799793
rs1799793
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.100 GeneticVariation BEFREE This meta-analysis suggests that the XPD Lys751Gln and Asp312Asn gene polymorphisms are associated with lung cancer risk, the C allele of XPD Lys751Gln genotype is an increased risk factor for developing lung cancer among Caucasians and in smokers, and the A allele of XPD 312 genotype is also an increased risk factor among Asians and in smokers. 20651612

2010

dbSNP: rs1799793
rs1799793
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.100 GeneticVariation BEFREE In conclusion, this meta-analysis suggested ERCC2 Asp312Asn polymorphism may increase the risk of lung cancer among Asians, whereas not among Caucasians. 24083550

2014

dbSNP: rs1799793
rs1799793
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.100 GeneticVariation BEFREE Several polymorphisms in DNA repair genes have been reported to be associated with lung cancer risk including XPA (-4G/A), XPD (Lys751Gln and Asp312Asn), XRCC1 (Arg399Gln), APE1 (Asp148Glu) and XRCC3 (Thr241Met). 15333465

2004

dbSNP: rs1799793
rs1799793
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.100 GeneticVariation BEFREE No clear association between XPD Asp312Asn or XPD Lys751Gln gene polymorphisms and lung cancer was found. 15615908

2005

dbSNP: rs1799793
rs1799793
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.100 GeneticVariation BEFREE We investigated the association of 10 base-excision and nucleotide-excision repair gene polymorphisms (XRCC1 -77 T/C, Arg194Trp, Arg280His and Arg399Gln; APE1 Asp148Glu; OGG1 Ser326Cys; XPA -4 G/A; XPC PAT; XPD Asp312Asn and Lys751Gln) with lung cancer risk in Caucasians. 17531525

2007

dbSNP: rs1799793
rs1799793
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.100 GeneticVariation BEFREE ERCC2 Asp/Asn (rs1799793) polymorphism may also affect lung cancer risk among nonsmokers. 21195504

2011

dbSNP: rs1799793
rs1799793
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.100 GeneticVariation BEFREE SNPs associated with lung cancer prognosis primarily mapped to 14 genes in different repair pathways, and 6 SNPs were remained in the final model after multivariate stepwise Cox regression analysis: ATM rs189037; MRE11A rs11020802; ERCC2 rs1799793; MBD4 rs140693; XRCC1 rs25487, and PMS1 rs5742933. 21739480

2012

dbSNP: rs1799793
rs1799793
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.100 GeneticVariation BEFREE We investigated the relationship between polymorphisms in two NER genes, XPC (poly (AT) insertion/deletion: PAT-/+) and XPD (Asp312Asn and Lys751Gln), the BER gene XRCC1 (Arg399Gln), and the DSBR gene XRCC3 (Thr241Met) and the risk of developing lung cancer. 17705814

2007

dbSNP: rs1799793
rs1799793
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.100 GeneticVariation BEFREE To better evaluate the potential role of the two polymorphisms and interaction with tobacco smoking in lung cancer susceptibility presented in diverse populations, we have conducted a meta-analysis based on 26 studies from 24 publications which included analyses of Asp312Asn (7121 cases, 8962 controls) and Lys751Gln (8396 cases, 10510 controls) polymorphisms. 21614524

2012

dbSNP: rs1799793
rs1799793
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.100 GeneticVariation BEFREE We have described statistically significant interactions between the ERCC2 polymorphisms (Asp312Asn and Lys751Gln) and smoking in lung cancer risk. 12692111

2003

dbSNP: rs1799793
rs1799793
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.100 GeneticVariation BEFREE In a case-cohort study, we have investigated the occurrence of lung cancer in relation to a high-risk haplotype, previously identified for breast cancer among post-menopausal women, and in relation to the closely linked polymorphisms XPD Asp312Asn and Lys751Gln. 14757194

2004