Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.400 GeneticVariation disease BEFREE We investigated associations between the risk of lung cancer in residents of the coal-mining region and polymorphisms in the genes APEX1 (rs1130409), hOGG1 (rs1052133), XRCC1 (rs25489, rs25487), XRCC2 (rs3218536), XRCC3 (rs861539), ADPRT/PARP1 (rs1136410), XPD/ERCC2 (rs13181), XPG/ERCC5 (rs17655), XPC (rs2228001), ATM (rs1801516), and NBS1 (rs1805794). 31584889 2019
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.400 GeneticVariation disease BEFREE XPC K939Q, XPA 5'UTR, XPG F670W and XPG D1104H had the best ability to predict lung cancer risk (CVC = 100, p < 0.0001). 31195348 2019
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.400 GeneticVariation disease BEFREE The mutant genotype of XPC Lys<sup>939</sup>Gln presented a higher risk of developing lung cancer in heavy smokers (OR: 3.71; 95%CI:1.46-9.45; p=0.005). 28540485 2018
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.400 GeneticVariation disease BEFREE We found a significantly increased risk of lung cancer development in XPD genotype Lys/Gln (OR=1.94; 95% CI=1.10-3.43; p=0.015) and in the gene combinations: XPD Lys/Gln+XPC Lys/Gln (OR=6.5; 95% CI=1.53-27.49; p=0.009) and XPD Lys/Gln+XPC Gln/Gln(OR=5.2; 95% CI=1.07-25.32; p=0.04). 25300687 2015
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.400 GeneticVariation disease BEFREE Associations between polymorphisms of the XPC gene and lung cancer susceptibility: a meta-analysis. 24375193 2014
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.400 Biomarker disease CTD_human Slow accumulation of mutations in Xpc-/- mice upon induction of oxidative stress. 24084170 2013
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.400 GeneticVariation disease BEFREE No significant associations were found between the three XPC polymorphisms and lung cancer susceptibility (for Lys939Gln polymorphism: CC vs AA, OR = 1.191, p = 0.033; AC vs AA, OR = 0.992, p = 0.762, the dominant model, OR = 1.028, p = 0.521; the recessive model, OR = 1.205, p = 0.022). 23381646 2013
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.400 GeneticVariation disease 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
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.400 GeneticVariation disease BEFREE Furthermore, a significant effect of SNPs in nucleotide excision repair pathway on lung cancer survival was observed among 185 stages III-IV patients treated with platinum-based chemotherapy without surgical operation: XPC rs2228000 (Ala499Val; P = 0.002) and ERCC1 rs11615 (Asn118Asn; P = 0.012). 21739480 2012
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.400 GeneticVariation disease BEFREE Our meta-analysis supports that polymorphisms in XPC may represent low-penetrance susceptibility gene variants for breast, bladder, head and neck, and lung cancer. 18285822 2008
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.400 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: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.400 Biomarker disease BEFREE We examine variants in 6 NER genes (ERCC2, ERCC4, ERCC5, LIG1, RAD23B and XPC) in association with primary lung cancer risk among 113 Latino and 255 African American subjects newly diagnosed with primary lung cancer from 1998 to 2003 in the San Francisco Bay Area and 579 healthy controls (299 Latinos and 280 African Americans). 18709642 2008
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.400 GeneticVariation disease BEFREE No associations with lung cancer risk were found for the XRCC1 -77 T/C, the XPA -4 G/A and the XPC PAT polymorphisms. 17531525 2007
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.400 PosttranslationalModification disease BEFREE Interestingly, XPC hypermethylation was found in 4 of 5 (80%) lung cancer cell lines harbored p53 mutation, but not observed in two lung cancer cells which had a wild-type p53 gene. 17325666 2007
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.400 GeneticVariation disease 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
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.400 Biomarker disease CTD_human Interestingly, XPC hypermethylation was found in 4 of 5 (80%) lung cancer cell lines harbored p53 mutation, but not observed in two lung cancer cells which had a wild-type p53 gene. 17325666 2007
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.400 GeneticVariation disease BEFREE To test this hypothesis, we investigated the potential association of 7 XPC polymorphisms (-449G-->C, -371G-->A, -27G-->C, Val499Arg, PAT-/+, IVS11-5C-->A and Lys939Gln) and their haplotypes with lung cancer risk in a Korean population. 15729698 2005
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.400 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: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.400 Biomarker disease BEFREE We studied single nucleotide polymorphisms (SNPs) and their corresponding haplotypes in 6 genes (ERCC1, ERCC2/XPD, ERCC4/XPF, ERCC5/XPG, RAD23B and XPC) involved in NER in a population-based case-control study of lung cancer in Xuan Wei. 15849729 2005
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.400 GeneticVariation disease BEFREE In conclusion, our findings support the hypothesis that PAT and intron 11 C/A XPC polymorphisms are linked in the Spanish population and may contribute to the risk of developing lung cancer probably due to a higher frequency of deletion of exon 12 and reduced DNA repair capacity of the XPC protein. 15533908 2004