Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1799793
rs1799793
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C1306460
Disease:
Primary malignant neoplasm 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: rs13181
rs13181
Entrez Id: 2068;147700
Gene Symbol: ERCC2;KLC3
ERCC2;KLC3
CUI: C1306460
Disease:
Primary malignant neoplasm 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
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C1306460
Disease:
Primary malignant neoplasm 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: rs759412116
rs759412116
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C1306460
Disease:
Primary malignant neoplasm 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: rs13181
rs13181
Entrez Id: 2068;147700
Gene Symbol: ERCC2;KLC3
ERCC2;KLC3
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.100 GeneticVariation BEFREE Among men, carriers of the variant allele of XPD Lys751Gln</span> had a non-significantly increased risk of lung cancer</span> in the youngest age interval (RR=6.38, 95% CI=0.74-54.90). 14757194 2004
dbSNP: rs1799793
rs1799793
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C1306460
Disease:
Primary malignant neoplasm 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
dbSNP: rs13181
rs13181
Entrez Id: 2068;147700
Gene Symbol: ERCC2;KLC3
ERCC2;KLC3
CUI: C1306460
Disease:
Primary malignant neoplasm 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
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C1306460
Disease:
Primary malignant neoplasm 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
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C1306460
Disease:
Primary malignant neoplasm 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: rs13181
rs13181
Entrez Id: 2068;147700
Gene Symbol: ERCC2;KLC3
ERCC2;KLC3
CUI: C1306460
Disease:
Primary malignant neoplasm 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
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C1306460
Disease:
Primary malignant neoplasm 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: rs13181
rs13181
Entrez Id: 2068;147700
Gene Symbol: ERCC2;KLC3
ERCC2;KLC3
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.100 GeneticVariation BEFREE The C-allele of ERCC2 Lys751Gln was significantly overrepresented among lung cancer cases (C versus A: adjusted odds ratio OR(adj) = 2.61, 95% CI = 1.12-6.05, P = 0.03). 16875933 2006
dbSNP: rs13181
rs13181
Entrez Id: 2068;147700
Gene Symbol: ERCC2;KLC3
ERCC2;KLC3
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.100 GeneticVariation BEFREE Haplotype analysis including three previously studied polymorphisms (ERCC1 Asn118Asn, ERCC2 Arg156Arg, and ERCC2 Lys751Gln) revealed that a haplotype consisting of ERCC1Asn118Asn(G)-ERCC2 Arg156Arg(C)-ERCC2 Asp312Asn(G)-ERCC2 Lys751Gln(C) was marginally associated with an increased risk of lung cancer (OR = 3.61, 95% CI = 1.00-13.06, P = 0.04). 17498557 2007
dbSNP: rs1799793
rs1799793
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.100 GeneticVariation BEFREE A haplotype encompassing the variant allele of DNA repair gene polymorphism ERCC2/XPD Lys751Gln but not the variant allele of Asp312Asn is associated with risk of lung cancer in a northeastern Chinese population. 17498557 2007
dbSNP: rs13181
rs13181
Entrez Id: 2068;147700
Gene Symbol: ERCC2;KLC3
ERCC2;KLC3
CUI: C1306460
Disease:
Primary malignant neoplasm 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
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.100 GeneticVariation BEFREE Prospective assessment of XPD Lys751Gln and XRCC1 Arg399Gln single nucleotide polymorphisms in lung cancer. 17504986 2007
dbSNP: rs13181
rs13181
Entrez Id: 2068;147700
Gene Symbol: ERCC2;KLC3
ERCC2;KLC3
CUI: C1306460
Disease:
Primary malignant neoplasm 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: rs1799793
rs1799793
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C1306460
Disease:
Primary malignant neoplasm 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: rs759412116
rs759412116
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C1306460
Disease:
Primary malignant neoplasm 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: rs755174338
rs755174338
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.010 GeneticVariation BEFREE Both the XRCC1 Arg194Trp and Arg280His as well as the OGG1 Ser326Cys heterozygous genotypes were associated with a significantly reduced risk for lung cancer (OR=0.32, p=0.024; OR=0.25, p=0.028; OR=0.51, p=0.033, respectively). 17531525 2007
dbSNP: rs13181
rs13181
Entrez Id: 2068;147700
Gene Symbol: ERCC2;KLC3
ERCC2;KLC3
CUI: C1306460
Disease:
Primary malignant neoplasm 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
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C1306460
Disease:
Primary malignant neoplasm 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
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C1306460
Disease:
Primary malignant neoplasm 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: rs13181
rs13181
Entrez Id: 2068;147700
Gene Symbol: ERCC2;KLC3
ERCC2;KLC3
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.100 GeneticVariation BEFREE Prognostic importance of DNA repair gene polymorphisms of XRCC1 Arg399Gln and XPD Lys751Gln in lung cancer patients from India. 17952468 2008
dbSNP: rs759412116
rs759412116
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
CUI: C1306460
Disease:
Primary malignant neoplasm 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