rs2228001, XPC

N. diseases: 60
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
0.100 GeneticVariation BEFREE The distributions of XPC Lys939Gln genotypes differed significantly between the response group (complete + partial responses) and the non-response group (stable + progressive disease; P = 0.022). 22166526 2010
Malignant neoplasm of urinary bladder
0.100 GeneticVariation BEFREE Our results suggest an association between the XPC genotypes of the A499V, K939Q and PAT polymorphisms and urinary-bladder cancer. 20887739 2010
Carcinoma of bladder
CUI: C0699885
Disease: Carcinoma of bladder
0.100 GeneticVariation BEFREE XPC Lys939Gln AC + CC genotype was significantly associated with risk in invasive stage of BC (p = 0.041, OR = 2.52). 19924443 2010
Malignant neoplasm of urinary bladder
0.100 GeneticVariation BEFREE XPC Lys939Gln AC + CC genotype was significantly associated with risk in invasive stage of BC (p = 0.041, OR = 2.52). 19924443 2010
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
0.100 GeneticVariation BEFREE To investigate the association between two Xeroderma pigmentosum group C polymorphism (XPC Lys939Gln and insertion/deletion PAT -/+ in intron 9) and bladder cancer (BC) susceptibility. 19924443 2010
Carcinoma of bladder
CUI: C0699885
Disease: Carcinoma of bladder
0.100 GeneticVariation BEFREE Our results suggest an association between the XPC genotypes of the A499V, K939Q and PAT polymorphisms and urinary-bladder cancer. 20887739 2010
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
0.100 GeneticVariation BEFREE These analyses suggest that XPC Lys(939)Gln, PAT+/- and Ala(499)Val likely contribute to susceptibility to cancers. 18771913 2008
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
0.100 GeneticVariation BEFREE We evaluated the association of two common non-synonymous polymorphisms in XPC (Ala499Val and Lys939Gln) with breast cancer risk in the Long Island Breast Cancer Study Project (LIBCSP), a population-based case-control study. 18053706 2008
Malignant neoplasm of urinary bladder
0.100 GeneticVariation BEFREE We analyzed the associations of the genotypes, haplotypes and diplotypes of three XPC polymorphisms, Ala499Val (C-->T), PAT (-/+) and Lys939Gln (A-->C), with the risk of bladder cancer. 17052994 2007
Carcinoma of bladder
CUI: C0699885
Disease: Carcinoma of bladder
0.100 GeneticVariation BEFREE We analyzed the associations of the genotypes, haplotypes and diplotypes of three XPC polymorphisms, Ala499Val (C-->T), PAT (-/+) and Lys939Gln (A-->C), with the risk of bladder cancer. 17052994 2007
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
0.100 GeneticVariation BEFREE The polyAT, intronic IVS11-6 and Lys939Gln XPC polymorphisms are not associated with transitional cell carcinoma of the bladder. 15886698 2005
Carcinoma of bladder
CUI: C0699885
Disease: Carcinoma of bladder
0.100 GeneticVariation BEFREE Using logistic regression adjusting for smoking, occupational and family history, neither the heterozygote nor the homozygote variants of these polymorphisms were associated with increased bladder cancer risk (adjusted odds ratio [95% confidence interval] for heterozygote 0.82 [0.63-1.07], 0.82 [0.63-1.08] and 0.83 [0.63-1.08] for PolyAT, IVS11-6 and Lys939Gln, respectively and homozygote variant, 0.98 [0.68-1.42], 0.99 [0.69-1.43] and 1.01 [0.70-1.46]). 15886698 2005
Malignant neoplasm of urinary bladder
0.100 GeneticVariation BEFREE Using logistic regression adjusting for smoking, occupational and family history, neither the heterozygote nor the homozygote variants of these polymorphisms were associated with increased bladder cancer risk (adjusted odds ratio [95% confidence interval] for heterozygote 0.82 [0.63-1.07], 0.82 [0.63-1.08] and 0.83 [0.63-1.08] for PolyAT, IVS11-6 and Lys939Gln, respectively and homozygote variant, 0.98 [0.68-1.42], 0.99 [0.69-1.43] and 1.01 [0.70-1.46]). 15886698 2005
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.090 GeneticVariation BEFREE In the second part we selected 2 common single nucleotide polymorphisms within genes involved in NER (Xeroderma pigmentosum group C (XPC) Lys939Gln, Xeroderma pigmentosum group D (XPD) Lys751Gln) to determine the relation between them and CRC risk. 29793654 2018
Bladder Neoplasm
CUI: C0005695
Disease: Bladder Neoplasm
0.090 GeneticVariation BEFREE A significant association between Ala499Val polymorphism and bladder cancer was observed (OR = 1.78, CI = 1.19-2.66, p = 0.005); however, Lys939Gln was unrelated (OR = 0.97, CI = 0.65-1.45, P = 0.89). 27246180 2016
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.090 GeneticVariation BEFREE The relationships between XPC polymorphisms (Lys939Gln and Ala499Val) and the susceptibility to colorectal cancer (CRC) have been studied by several researchers, but the results were inconclusive. 26214629 2015
Bladder Neoplasm
CUI: C0005695
Disease: Bladder Neoplasm
0.090 GeneticVariation BEFREE Numerous studies have investigated the association between three polymorphisms (Lys939Gln, Ala499Val and PAT-/+) of Xeroderma pigmentosum group C (XPC) gene and bladder cancer susceptibility; however, the findings are inconclusive. 23918308 2014
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.090 GeneticVariation BEFREE This meta-analysis suggested that both the XPC Lys939Gln and Ala499Val polymorphisms were not risk factors for increasing colorectal cancer. 24385304 2014
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.090 GeneticVariation BEFREE The XPC Lys939Gln polymorphism may play an important role in CRC development among Asians and nonsmokers. 24947936 2014
Bladder Neoplasm
CUI: C0005695
Disease: Bladder Neoplasm
0.090 GeneticVariation BEFREE A meta-analysis was performed to examine the association between XPC Lys939Gln polymorphism and susceptibility to bladder cancer (BC). 23269608 2013
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.090 GeneticVariation BEFREE Overall, Lys939Gln was significantly associated with an increased overall cancer risk (Gln/Gln vs. Lys/Lys: OR = 1.16, 95% CI = 1.07 - 1.25, p < 0.001; recessive model: OR = 1.14, 95% CI = 1.06 - 1.22, p < 0.001; dominant model: OR = 1.06, 95% CI = 1.01 - 1.11, p = 0.015 and Gln vs. Lys: OR = 1.07, 95% CI = 1.03 - 1.10, p < 0.001) and further stratifications showed an increased risk for bladder, lung and colorectal cancer, Asian populations and population-based studies. 23400628 2013
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.090 GeneticVariation BEFREE In conclusion, the current data suggested that XPC Lys939Gln and XPG Asp1104His polymorphisms might contribute to the identification of patients with increased risk for CRC. 22213216 2012
Bladder Neoplasm
CUI: C0005695
Disease: Bladder Neoplasm
0.090 GeneticVariation BEFREE We investigated three polymorphisms of the XPC gene (PAT, Ala499Val and Lys939Gln) in 600 subjects with bladder cancer and in 609 healthy controls by a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay in a Chinese Han population. 22505326 2012
Bladder Neoplasm
CUI: C0005695
Disease: Bladder Neoplasm
0.090 GeneticVariation BEFREE We examined the associations between bladder cancer and 7 polymorphisms from 5 genes involved in the maintenance of genetic stability (MMR: MLH1-93G>A; BER: XRCC1--77T>C and Arg399Gln; NER:XPC Lys939Gln and PAT +/-; DSBR:ATM G5557A and XRCC7 G6721T) in 302 incident bladder cancer cases and 311 hospital controls. 22927776 2012
Bladder Neoplasm
CUI: C0005695
Disease: Bladder Neoplasm
0.090 GeneticVariation BEFREE In this work, we have conducted a case-control study in order to assess the effect of tobacco and three genetic polymorphisms in XPC, ERCC2 and ERCC5 genes (rs2228001, rs13181 and rs17655) in bladder cancer development in Tunisia. 21426550 2011