rs13181, KLC3;ERCC2

N. diseases: 134
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.080 GeneticVariation BEFREE ERCC1 Lys259Thr (rs735482), ERCC2 Lys751Gln (rs13181), ERCC5 His46His C>T (rs1047768), XRCC1 Arg399Gln (rs25487), TP53 Arg72Pro (rs1042522) and MDM2 309T>G (rs2279744) were analyzed on tumor DNA. 28351583 2017
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.080 GeneticVariation BEFREE The objective of this study was to investigate the association of XRCC3 Thr241Met and XPD Lys751Gln gene polymorphisms with the risk of CCRCC and the association between these genotypes and CCRCC histopathological prognostic factors (pathologic stage, Fuhrman grade, tumor diameter). 26682510 2016
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.080 GeneticVariation BEFREE On stratified analysis by tumor type, XPD Lys751Gln polymorphism was not associated with increased risk of non-melanoma skin cancer, but was significantly related with increased risk of cutaneous melanoma (Gln/Gln vs Lys/Lys: OR=1.15, 95%CI=1.02-1.29, p=0.023; dominant model: OR=1.09, 95%CI=1.01-1.18, p=0.036). 25169498 2014
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.080 GeneticVariation BEFREE In the stratified analysis by tumor type, the risk of oral leukoplakia was significant associated with rs13181 polymorphism (AC vs. AA: OR = 1.28, 95% CI = 1.01-1.62, P = 0.546 for heterogeneity, I² = 0.0%; CC vs. AA: OR = 1.94, 95% CI = 0.99-3.79, P = 0.057 for heterogeneity, I² = 60.1%; dominant model AC + CC vs. AA: OR = 1.35, 95% CI = 1.08-1.69, P = 0.303 for heterogeneity, I² = 17.6%; allele C vs. A: OR = 1.38, 95% CI = 1.04-1.82. 24330540 2013
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.080 GeneticVariation BEFREE Although two SNPs in BRCA2 (rs144848, rs1801406) and two SNPs in ERCC2 (rs1799793, rs13181) showed stronger associations with high Gleason score or advanced-stage tumors when comparing homozygous men carrying the minor versus major allele, results were not statistically significantly different between clinically aggressive and non-aggressive tumors. 19902366 2010
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.080 GeneticVariation BEFREE A significant association with tumor response, after correction for multiple testing, was found for the Lys751Gln polymorphism in the ERCC2 gene. 19434073 2009
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.080 GeneticVariation BEFREE However, ERCC2 K751Q polymorphism was associated with an increased risk for non-cardial neoplasm [odds ratio (OR) = 1.78; 95% confidence interval (CI) 1.02-3.12], being ERCC2 K751Q and D312N polymorphisms associated with the diffuse type. 18641418 2008
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.080 GeneticVariation BEFREE We genotyped constitutive variants ERCC1 C8092A and ERCC2 K751Q and R156R in approximately 450 adults with glioma and 500 controls from two independent population-based series, uniformly reviewed patients' tumors to determine histopathologic category, and determined a variety of tumor markers among astrocytic tumors. 16212814 2005