|
rs1042522
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Specifically, 2 polymorphisms-an arginine-to-glutamine substitution at codon 399 (Q399R) in XRCC1 and a lysine-to-glutamine substitution at codon 751 (K751Q) in XPD-were associated with increased toxicity to 5-FU/RT (P < .05), and an arginine-to-proline substitution at codon 72 (R72P) in TP53 was associated with increased toxicity to mFOLFOX-6 (P = .008).
|
23096768 |
2013 |
|
rs1045642
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We aimed to determine the associations of genetic polymorphisms of excision repair cross-complementation group 1 (ERCC1) rs11615, xeroderma pigmentosum group D (XPD/ERCC2) rs13181, X-ray repair cross complementing group 1 (XRCC1) rs25487, XRCC3 rs1799794, and breast cancer susceptibility gene 1 (BRCA1) rs1799966 from the DNA repair pathway and multiple drug resistance 1 (MDR1/ABCB1) rs1045642 with response to chemotherapy and survival of non-small cell lung cancer (NSCLC) in a Chinese population.
|
24933103 |
2014 |
|
rs1052133
|
|
|
0.050 |
GeneticVariation |
BEFREE |
We investigated the effect of hOGG1 (Ser326Cys) and XPD (Lys751Gln) polymorphisms on the oxidative stress level after reperfusion.
|
22194171 |
2011 |
|
rs1052133
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G>A), ERCC2/XPD (Lys751Gln) and ERCC5/XPD (His46His); the BER genes APE1/APEX (Ile64Val), OGG1 (Ser326Cys), PCNA (1876A>G) and XRCC1 (Arg194Trp, Arg280His, Arg399Gln); and the DSB-R genes ATR (Thr211Met), NBS1 (Glu185Gln), XRCC2 (Arg188His) and XRCC9 (Thr297Ile) modulate NSCLC risk.
|
16195237 |
2006 |
|
rs1052133
|
|
|
0.050 |
GeneticVariation |
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 |
|
rs1052133
|
|
|
0.050 |
GeneticVariation |
BEFREE |
We observed a strong association between breast cancer occurrence and the genotypes C/C of the RAD51-135G/C polymorphism, Ser/Ser of the OGG1-Ser326Cys and Lys/Gln of the XPD-Lys751Gln, whereas the genotypes G/C of the RAD51-135G/C and Lys/Lys of the XPD-Lys751Gln exerted a protective effect against breast cancer.
|
18977234 |
2008 |
|
rs1052133
|
|
|
0.050 |
GeneticVariation |
BEFREE |
The present meta-analysis has limited evidence to support the association of XPD Lys751Gln and hOGG1 Ser326Cys polymorphisms with HCC risk.
|
23271362 |
2013 |
|
rs1060503460
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G>A), ERCC2/XPD (Lys751Gln) and ERCC5/XPD (His46His); the BER genes APE1/APEX (Ile64Val), OGG1 (Ser326Cys), PCNA (1876A>G) and XRCC1 (Arg194Trp, Arg280His, Arg399Gln); and the DSB-R genes ATR (Thr211Met), NBS1 (Glu185Gln), XRCC2 (Arg188His) and XRCC9 (Thr297Ile) modulate NSCLC risk.
|
16195237 |
2006 |
|
rs1130409
|
|
|
0.020 |
GeneticVariation |
BEFREE |
In conclusion, our results reveal no association between XPD Lys751Gln, XRCC Arg399Gln and XRCC3 Thr241Met polymorphisms and the risk of PE in a Mexican mestizo population; however, the results in the APEX1 Asp148Glu polymorphism suggest the need for future studies using a larger sample size.
|
24619222 |
2014 |
|
rs1130409
|
|
|
0.020 |
GeneticVariation |
BEFREE |
However, in XRCC1-Arg399Gln, APE1-Asp148Glu, and XPD-Lys751Gln polymorphisms, there were no significant differences in frequencies of the variant homozygous in patients compared with controls.
|
22306120 |
2012 |
|
rs1131691014
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Specifically, 2 polymorphisms-an arginine-to-glutamine substitution at codon 399 (Q399R) in XRCC1 and a lysine-to-glutamine substitution at codon 751 (K751Q) in XPD-were associated with increased toxicity to 5-FU/RT (P < .05), and an arginine-to-proline substitution at codon 72 (R72P) in TP53 was associated with increased toxicity to mFOLFOX-6 (P = .008).
|
23096768 |
2013 |
|
rs1160237842
|
|
|
0.010 |
GeneticVariation |
BEFREE |
ERCC1 (C8092A, C118T), XPD (Lys751Gln), XRCC1 (Arg399Gln) and XRCC3 (Thr241Met) gene polymorphisms were evaluated on tumour DNA by TaqMan allelic discrimination assay.
|
23549037 |
2013 |
|
rs11615
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The ERCC1 rs13181 and XPD rs11615 polymorphisms were not predictive of clinical outcome for HCC patients receiving TACE (both p > 0.05).
|
26918371 |
2016 |
|
rs11615
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The correlation between ERCC1 polymorphisms (rs11615 and rs3212986) and XPD polymorphisms (rs13181 and rs1799793) with the response rate and overall survival of cancer patients who accept neoadjuvant therapy has been extensively investigated.However, the results are inconclusive.
|
26426637 |
2015 |
|
rs1180868926
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G>A), ERCC2/XPD (Lys751Gln) and ERCC5/XPD (His46His); the BER genes APE1/APEX (Ile64Val), OGG1 (Ser326Cys), PCNA (1876A>G) and XRCC1 (Arg194Trp, Arg280His, Arg399Gln); and the DSB-R genes ATR (Thr211Met), NBS1 (Glu185Gln), XRCC2 (Arg188His) and XRCC9 (Thr297Ile) modulate NSCLC risk.
|
16195237 |
2006 |
|
rs1181005582
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G>A), ERCC2/XPD (Lys751Gln) and ERCC5/XPD (His46His); the BER genes APE1/APEX (Ile64Val), OGG1 (Ser326Cys), PCNA (1876A>G) and XRCC1 (Arg194Trp, Arg280His, Arg399Gln); and the DSB-R genes ATR (Thr211Met), NBS1 (Glu185Gln), XRCC2 (Arg188His) and XRCC9 (Thr297Ile) modulate NSCLC risk.
|
16195237 |
2006 |
|
rs1194327405
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, we have focused on the polymorphisms of xeroderma pigmentosum complementation group D (XPD) codon 312 and 751 (namely Asp312Asn and Lys751Gln), involved in nucleotide excision repair.
|
19919686 |
2009 |
|
rs121913016
|
|
|
0.720 |
GeneticVariation |
UNIPROT |
Selective regulation of vitamin D receptor-responsive genes by TFIIH.
|
15494306 |
2004 |
|
rs121913016
|
|
|
0.720 |
GeneticVariation |
UNIPROT |
A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.
|
10447254 |
1999 |
|
rs121913016
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Mutations of Arg658 to either His or Cys correlate with TTD cell strains with intermediate UV-sensitivity, mutation of Arg722 to Trp correlates with highly UV-sensitive TTD cell strains, and mutation of Arg683 to Trp correlates with XP-D. Alleles with mutation of Arg616 to Pro or with the combined mutation of Leu461 to Val and deletion of 716-730 are found in both XP-D and TTD cell strains.
|
8571952 |
1996 |
|
rs121913016
|
|
|
0.720 |
GeneticVariation |
BEFREE |
In cell line GM436 a C-->G transversion was found at nucleotide position 1411 in the XPD (ERCC2) cDNA, a change expected to result in a Leu461Val substitution.
|
7849702 |
1994 |
|
rs121913016
|
|
|
0.720 |
GeneticVariation |
UNIPROT |
Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D.
|
7585650 |
1995 |
|
rs121913016
|
|
|
0.720 |
GeneticVariation |
UNIPROT |
Mutations in the XPD gene leading to xeroderma pigmentosum symptoms.
|
9101292 |
1997 |
|
rs121913016
|
|
|
0.720 |
GeneticVariation |
UNIPROT |
Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome.
|
7825573 |
1995 |
|
rs121913016
|
|
|
0.720 |
GeneticVariation |
UNIPROT |
In cell line GM436 a C-->G transversion was found at nucleotide position 1411 in the XPD (ERCC2) cDNA, a change expected to result in a Leu461Val substitution.
|
7849702 |
1994 |