rs2228001, XPC

N. diseases: 60
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.040 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 breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.040 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
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
Bladder Neoplasm
CUI: C0005695
Disease: Bladder Neoplasm
0.090 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
Congenital chromosomal disease
CUI: C0008626
Disease: Congenital chromosomal disease
0.020 GeneticVariation BEFREE We analysed the associations between genetic polymorphisms in genes coding for DNA repair enzymes XPD (exon 23 A --> C, K751Q), XPG (exon 15 G --> C, D1104H), XPC (exon 15 A --> C, K939Q), XRCC1 (exon 10 G --> A, R399Q) and XRCC3 (exon 7 C --> T, T241 M) and the levels of chromosomal aberrations (CAs) and single-strand breaks (SSBs) in peripheral lymphocytes in a central European population. 14729591 2004
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
Bladder Neoplasm
CUI: C0005695
Disease: Bladder Neoplasm
0.090 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 breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.040 GeneticVariation BEFREE Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. 18701435 2008
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.040 GeneticVariation BEFREE Using data/samples collected from the first 752 Caucasians and 141 African-Americans in an ongoing case-control study, we examined the association between breast cancer risk and 18 non-synonymous single-nucleotide polymorphisms (nsSNPs) in four DNA repair pathways-(i) base excision repair: ADPRT V762A, APE1 D148E, XRCC1 R194W/R280H/R399Q and POLD1 R119H; (ii) nucleotide excision repair: ERCC2 D312N/K751Q, ERCC4 R415Q, ERCC5 D1104H and XPC A499V/K939Q; (iii) mismatch repair: MLH1 I219V, MSH3 R940Q/T1036A and MSH6 G39E and (iv) double-strand break repair: NBS1 E185Q and XRCC3 T241M. 18701435 2008
Malignant neoplasm of skin
CUI: C0007114
Disease: Malignant neoplasm of skin
0.010 GeneticVariation BEFREE Two polymorphisms in XPC, 939A>C (rs2228001) and 499C>T (rs2228000), are considered to have possible associations with the risk of skin cancer, but the reported results have been inconsistent. 23244095 2012
progesterone receptor-negative breast cancer
0.010 GeneticVariation BEFREE Two polymorphisms (rs2228001 and rs50872) were associated with the risk of breast cancer with negative lymph node involvement. rs1800975 and rs50872 were associated with the risk of ER- and PR- breast cancer, whereas rs11615 was associated with the risk of ER+ and PR+ breast cancer. 27768589 2016
progesterone receptor-positive breast cancer
0.010 GeneticVariation BEFREE Two polymorphisms (rs2228001 and rs50872) were associated with the risk of breast cancer with negative lymph node involvement. rs1800975 and rs50872 were associated with the risk of ER- and PR- breast cancer, whereas rs11615 was associated with the risk of ER+ and PR+ breast cancer. 27768589 2016
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.040 GeneticVariation BEFREE Two polymorphisms (rs2228001 and rs50872) were associated with the risk of breast cancer with negative lymph node involvement. rs1800975 and rs50872 were associated with the risk of ER- and PR- breast cancer, whereas rs11615 was associated with the risk of ER+ and PR+ breast cancer. 27768589 2016
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.040 GeneticVariation BEFREE Two polymorphisms (rs2228001 and rs50872) were associated with the risk of breast cancer with negative lymph node involvement. rs1800975 and rs50872 were associated with the risk of ER- and PR- breast cancer, whereas rs11615 was associated with the risk of ER+ and PR+ breast cancer. 27768589 2016
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.070 GeneticVariation 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
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
0.070 GeneticVariation 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
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
0.070 GeneticVariation 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
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
0.100 GeneticVariation BEFREE To quantitatively elucidate the genetic impact of the <i>XPC</i> rs2228000 and rs2228001 polymorphisms on the response to platinum-based chemotherapy, the present meta-analysis was conducted. 31190883 2019
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
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
0.100 GeneticVariation BEFREE Three SNPs showed a main association with advanced prostate cancer risk after multiple testing correction: catalase (CAT) rs511895, prostaglandin-endoperoxide synthase 2 (PTGS2) rs5275, and xeroderma pigmentosum group C (XPC) rs2228001. 29697282 2019
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
0.070 GeneticVariation BEFREE This meta-analysis was performed to determine the relationship between XPC polymorphisms (Lys939Gln, Ala499Val, and PAT) and lung cancer risk. 24736739 2014
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
0.070 GeneticVariation BEFREE This meta-analysis was performed to determine the relationship between XPC polymorphisms (Lys939Gln, Ala499Val, and PAT) and lung cancer risk. 24736739 2014