|
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 |
|
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
|
|
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
|
|
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 |
|
Carcinoma of lung
|
|
0.070 |
GeneticVariation
|
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 |
|
Primary malignant neoplasm of lung
|
|
0.070 |
GeneticVariation
|
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 |
|
Malignant neoplasm of lung
|
|
0.070 |
GeneticVariation
|
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 |
|
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
|
|
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
|
|
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 |
|
Small cell carcinoma of lung
|
|
0.010 |
GeneticVariation
|
BEFREE |
The PAT-/+, IVS11-5C-->A and Lys939Gln polymorphisms were associated with a significantly decreased risk of small cell carcinoma (SM) under a dominant model for the polymorphic allele (adjusted OR = 0.49, 95% CI 0.29-0.82, p = 0.006; adjusted OR = 0.60, 95% CI 0.36-1.00, p = 0.05; and adjusted OR = 0.58, 95% CI 0.35-0.97, p = 0.04, respectively).
|
15729698 |
2005 |
|
Carcinoma, Small Cell
|
|
0.010 |
GeneticVariation
|
BEFREE |
The PAT-/+, IVS11-5C-->A and Lys939Gln polymorphisms were associated with a significantly decreased risk of small cell carcinoma (SM) under a dominant model for the polymorphic allele (adjusted OR = 0.49, 95% CI 0.29-0.82, p = 0.006; adjusted OR = 0.60, 95% CI 0.36-1.00, p = 0.05; and adjusted OR = 0.58, 95% CI 0.35-0.97, p = 0.04, respectively).
|
15729698 |
2005 |
|
Transitional cell carcinoma of bladder
|
|
0.010 |
GeneticVariation
|
BEFREE |
The polyAT, intronic IVS11-6 and Lys939Gln XPC polymorphisms are not associated with transitional cell carcinoma of the bladder.
|
15886698 |
2005 |
|
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
|
|
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
|
|
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 |
|
Colorectal Carcinoma
|
|
0.090 |
GeneticVariation
|
BEFREE |
We observed a statistically significant interaction between the XPC Lys939Gln polymorphism and consumption of red meat, with a 3.7-fold increase in colorectal cancer risk per 100g red meat intake per day among carriers of the homozygous variant, but virtually no effect of red meat intake among carriers of the wild type allele.
|
17363013 |
2007 |
|
Prostate carcinoma
|
|
0.050 |
GeneticVariation
|
BEFREE |
This is the first report on the studies of XPC and XRCC1 Arg194Trp polymorphisms in PC, and our present data suggest that XPC Lys939Gln and the T-A haplotype of XRCC1 Arg194Trp and Arg399Gln may be risk factors for PC in Japanese.
|
17196815 |
2007 |
|
Malignant neoplasm of prostate
|
|
0.050 |
GeneticVariation
|
BEFREE |
This is the first report on the studies of XPC and XRCC1 Arg194Trp polymorphisms in PC, and our present data suggest that XPC Lys939Gln and the T-A haplotype of XRCC1 Arg194Trp and Arg399Gln may be risk factors for PC in Japanese.
|
17196815 |
2007 |
|
Malignant neoplasm of colon and/or rectum
|
|
0.040 |
GeneticVariation
|
BEFREE |
We observed a statistically significant interaction between the XPC Lys939Gln polymorphism and consumption of red meat, with a 3.7-fold increase in colorectal cancer risk per 100g red meat intake per day among carriers of the homozygous variant, but virtually no effect of red meat intake among carriers of the wild type allele.
|
17363013 |
2007 |
|
Xeroderma pigmentosum, group F
|
|
0.010 |
GeneticVariation
|
BEFREE |
In this case-control study of 144 OPL patients and 288 controls, we genotyped 11 polymorphisms in 8 major NER genes, including XPA [A23G at 5' untranslated region (UTR)], XPD (Asp312Asn, Lys751Gln), XPC (Ala499Val, Lys939Gln), XPG (His1104Asp), XPF (Pro662Ser), ERCC6 (Met1097Val, Arg1230Pro) Rad23B (Ala249Val), and CCNH (Val270Ala).
|
17575242 |
2007 |
|
Xeroderma pigmentosum, group G
|
|
0.010 |
GeneticVariation
|
BEFREE |
In this case-control study of 144 OPL patients and 288 controls, we genotyped 11 polymorphisms in 8 major NER genes, including XPA [A23G at 5' untranslated region (UTR)], XPD (Asp312Asn, Lys751Gln), XPC (Ala499Val, Lys939Gln), XPG (His1104Asp), XPF (Pro662Ser), ERCC6 (Met1097Val, Arg1230Pro) Rad23B (Ala249Val), and CCNH (Val270Ala).
|
17575242 |
2007 |
|
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 |