Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.100 GeneticVariation disease BEFREE Four of the variants were found to be weakly associated with lung cancer risk with borderline significance: these were XRCC3 T241M [heterozygote odds ratio (OR), 0.89; 95% confidence interval (95% CI), 0.79-0.99 and homozygote OR, 0.84; 95% CI, 0.71-1.00] based on 3,467 cases and 5,021 controls from 8 studies, XPD K751Q (heterozygote OR, 0.99; 95% CI, 0.89-1.10 and homozygote OR, 1.19; 95% CI, 1.02-1.39) based on 6,463 cases and 6,603 controls from 9 studies, and TP53 R72P (heterozygote OR, 1.14; 95% CI, 1.00-1.29 and homozygote OR, 1.20; 95% CI, 1.02-1.42) based on 3,610 cases and 5,293 controls from 6 studies. 18990748 2008
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.100 GeneticVariation disease BEFREE We included polymorphisms in the XPC, XPA and XPD genes involved in the nucleotide excision DNA repair pathway and analysed possible interactions with smoking and dietary intake of fruit and vegetables in relation to risk for lung cancer. 17913280 2008
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.100 GeneticVariation disease BEFREE Two of the genetic polymorphisms, XRCC1Arg399Gln and XPD Lys751Gln have been extensively studied in the association with lung cancer risk, although published studies have been inconclusive. 17952468 2008
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.100 GeneticVariation disease BEFREE From MDR analysis, in Latinos, smoking and 3 SNPs (ERCC2 rs171140, ERCC5 rs17655 and LIG1 rs20581) together had a prediction accuracy of 67.4% (p = 0.001) for lung cancer. 18709642 2008
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.100 AlteredExpression disease BEFREE Using a panel of 20 lung cancer cell lines, including 15 NSCLC and 5 small cell lung cancers (SCLC), the mRNA expression levels for the RRM1, ERCC1 and ERCC2 genes were examined by quantitative real-time reverse transcription PCR. 18494946 2008
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.100 GeneticVariation disease BEFREE This study aimed to investigate the relationship between the XPD Lys751Gln and XRCC1 Arg399Gln genotypes and outcome in lung cancer patients. 17504986 2007
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.100 GeneticVariation disease BEFREE XPD variant genotypes (312Asn/Asn and 751Gln/Gln) presented a not statistically significant risk of developing lung cancer (OR = 1.52; 95%CI = 0.91-2.51; OR = 1.38; 95%CI = 0.85-2.25, respectively), especially among ever smokers (OR = 1.58; 95%CI = 0.96-2.60), heavy smokers (OR = 2.07; 95%CI = 0.74-5.75), and adenocarcinoma (OR = 1.88; 95%CI = 0.97-3.63). 17705814 2007
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.100 GeneticVariation disease BEFREE Our data suggest that the polymorphism ERCC2 Lys751Gln or a haplotype encompassing the variant allele is associated with risk of lung cancer in this population. 17498557 2007
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.100 GeneticVariation disease BEFREE We found an increased risk of lung cancer among subjects carrying the ERCC2 751Gln/Gln genotype (odds ratio (OR) = 1.30, 95% confidence interval (CI) = 1.14 - 1.49). 17299578 2007
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.100 GeneticVariation disease 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
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.100 GeneticVariation disease BEFREE In conclusion, our results suggest that ERCC2 Lys751Gln(C) allele is a potential risk marker for lung cancer in this northeastern Chinese population. 16875933 2006
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.100 Biomarker disease BEFREE These findings indicate that these tagSNPs of the ERCC2 and ERCC3 along with their surrounding regions may serve as biomarkers of susceptibility to lung cancer, which warrant further validation by other population-based and phenotypic studies to determine the biological relevance of these tagSNPs. 16835333 2006
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.100 GeneticVariation disease BEFREE In conclusion, this study indicated no association between mRNA expression of the DNA-repair genes ERCC1 and XPD and risk of subsequent development of lung cancer. 16054657 2006
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.100 GeneticVariation disease BEFREE Polymorphisms in XPD and TP53 and mutation in human lung cancer. 15564288 2005
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.100 GeneticVariation disease BEFREE We found that XPA A23G and XPC Lys939Gln polymorphisms may be risk factors for lung cancer and evidence that positive interactions between the polymorphisms in XPA/XPD and XPC/XPD may occur. 15837542 2005
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.100 GeneticVariation disease BEFREE This is the first study to report a significant association of XPD Arg156Arg with risk of lung cancer. 15896456 2005
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.100 GeneticVariation disease BEFREE ERCC2 /XPD gene polymorphisms and lung cancer: a HuGE review. 15615908 2005
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.100 GeneticVariation disease BEFREE Moreover, one haplotype in ERCC2 was associated with a decreased risk of lung cancer (OR = 0.40, 95% CI 0.19-0.85) compared to the most common haplotype. 15849729 2005
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.100 GeneticVariation disease BEFREE Together with data from the present study on DNA repair genes, we did not observe significant associations between any single variant genotype for several DNA-repair and chemical-metabolizing genes (XPD [or ERCC2], XRCC1, XRCC3, GSTM1, GSTT1, MPO, and mEH [or EPHX1]) and lung cancer. 15199549 2004
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.100 GeneticVariation disease BEFREE Among men, carriers of the variant allele of XPD Lys751Gln had a non-significantly increased risk of lung cancer in the youngest age interval (RR=6.38, 95% CI=0.74-54.90). 14757194 2004
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.100 GeneticVariation disease BEFREE Combinations of polymorphisms in genes involved in the same repair pathway (XPA + XPD or XRCC1 + APE1) affected lung cancer risk only in patients with SCC. 15333465 2004
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.100 GeneticVariation disease BEFREE These results support the hypothesis that both the XPD 751 C and 312 A are risk alleles and individuals with the XPD 751 CC and 312 AA genotypes are at higher risk of developing lung cancer. 15364127 2004
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.100 GeneticVariation disease BEFREE Common variant alleles at the XPD (312Asn, 751Gln) and XRCC1 (399Gln) loci have been identified and associated with increased risk for lung cancer. 12552590 2003
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.100 GeneticVariation disease BEFREE XPD genotypes were determined using PCR-RFLP techniques, and the associations between genotypes and risk of lung cancer were estimated by odds ratios (ORs) and their 95% confidence intervals (CIs) calculated by unconditional logistic regression. 12740916 2003
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.100 GeneticVariation disease 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