IGDB.NSCLC Gene View
 
Gene Information        (help)
Gene ERCC2 Ensembl ENSG00000104884 Chromosome 19 Start 50546086 End 50565675
Description TFIIH basal transcription factor complex helicase subunit (EC 3.6.1.-)(DNA repair protein complementing XP-D cells)(Xeroderma pigmentosum group D-complementing protein)(CXPD)(DNA excision repair protein ERCC-2) [Source:UniProtKB/Swiss-Prot;Acc:P18074]
GENE RESOURCES :NUCLEOTIDE SEQUENCES :PROTEIN RESOURCES :CLINICAL RESOURCES :REFERENCES :
     HGNC : 3434
     Entrez Gene : 2068
     UCSC : uc002pbj.2
     GeneCards : 3434
     RefSeq : NM_000400
     CCDS : CCDS33049.1
     Uniprot : P18074
     Interpro : P18074
     OMIM : 126340
     GeneTests : ERCC2
     CGAP : ERCC2
     PMID : 8413672

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Somatic Mutaions        (help)
Lung cancer Adenocarcinoma Squamous Cell Carcinoma
Unique Mutated Samples % Mutated Total Unique
Samples
Unique Mutated
Samples
% Mutated Total Unique
Samples
Unique Mutated
Samples
% Mutated Total Unique
Samples
1 0.50 200 1 0.53 189 0 0.00 0
Sample datas
Sample Name Histology Subtype DNA Mutation Protein Mutation Mutation Description Zygosity Genomic Co-ordinates NCBI36 Pubmed
17282 AD c.1852G>A p.V618I Substitution - Missense Heterozygous 19:50547894-5054789418948947

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Experimental Evidence        (help)
Expression Sample Number Method Clinical information PubMed Reference
up 30/50(60%,1.12))(Fold Change) qRT-PCRGrade(P=0.030) 19351853 Cancer Res. 2009 Apr 15;69(8):3390-6.

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Microarray Gene Expression Fold Change Result        (help)
( red: up-regulation / green : down-regulation when p value < 0.01)
( gray background : these probesets might have mapping problems. ref 1, ref 2)
Chip Type Probeset Adenocarcinoma Squamous Cell Carcinoma
Fold Change p value q value Fold Change p value q value
 HG_U95  32396_f_at  0.39  5.18e-3  1.33e-2  -0.09  6.69e-1  7.52e-1
 HG_U95  32397_r_at  0.36  2.32e-3  6.60e-3  0.11  5.54e-1  6.51e-1
 HG_U95  41095_at  0.20  7.01e-3  1.72e-2  -0.08  4.81e-1  5.84e-1
 HG_U95  992_at  0.11  5.72e-1  6.68e-1  0.12  6.35e-1  7.23e-1
 HG_U133A  213468_at  0.83  3.56e-10  1.29e-9  2.61  6.10e-45  1.28e-44
 HG_U133_Plus2  213468_at  -0.06  6.54e-1  7.26e-1  -0.55  1.57e-3  2.93e-3
 Stanford  2546  0.17  5.62e-1  7.29e-1  0.02  9.44e-1  9.76e-1
 Stanford  19946  0.53  9.86e-3  6.41e-2  0.47  4.93e-2  1.69e-1
 Agilent_HS_21.6K  12834  -0.12  1.20e-3  8.86e-3  -0.12  5.27e-4  3.20e-3

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Adjuvant Cisplatin/vinorelbine Treatment vs Observation Result        (help) (Pubmed)
( red: up-regulation / green : down-regulation when p value < 0.01)
( gray background color : the mapping problems of probeset. ref_1, ref_2)
Chip Type Probeset Adenocarcinoma Squamous Cell Carcinoma
Fold Change p value q value Fold Change p value q value
 HG_U133A  213468_at  -0.13  7.69e-1  9.76e-1  -0.07  7.84e-1  1.00e+0

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Microarray Sample Data        (help)
( The log2 value of tumor samples )
(Average : Average log2 value from Normal Samples.)
        HG_U95 - 32396_f_at    (back)       Save as a PNG file. Save as a PDF file. Save as a PS file.
Gene expression figure

        HG_U95 - 32397_r_at    (back)       Save as a PNG file. Save as a PDF file. Save as a PS file.
Gene expression figure

        HG_U95 - 41095_at    (back)       Save as a PNG file. Save as a PDF file. Save as a PS file.
Gene expression figure

        HG_U95 - 992_at    (back)       Save as a PNG file. Save as a PDF file. Save as a PS file.
Gene expression figure

        HG_U133A - 213468_at    (back)       Save as a PNG file. Save as a PDF file. Save as a PS file.
Gene expression figure

        HG_U133_Plus2 - 213468_at    (back)       Save as a PNG file. Save as a PDF file. Save as a PS file.
Gene expression figure

        Stanford - 2546    (back)       Save as a PNG file. Save as a PDF file. Save as a PS file.
Gene expression figure

        Stanford - 19946    (back)       Save as a PNG file. Save as a PDF file. Save as a PS file.
Gene expression figure

        Agilent_HS_21.6K - 12834    (back)       Save as a PNG file. Save as a PDF file. Save as a PS file.
Gene expression figure

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Cancer Gene Index        (help)

If 0 entry was found, please remove the search key "lung cancer".
Keyword DiseaseData Statement PubMed Organism
xpd lung cancer We demonstrated previously that DRC for removal of benzo[a]pyrene diol epoxide-induced DNA damage measured by a host-cell reactivation assay was modulated by two XPD/ERCC2 polymorphisms in lung cancer. 11872635 Human
ercc2 lung cancer We demonstrated previously that DRC for removal of benzo[a]pyrene diol epoxide-induced DNA damage measured by a host-cell reactivation assay was modulated by two XPD/ERCC2 polymorphisms in lung cancer. 11872635 Human
ercc2 lung cancer Gene-environment interaction for the ERCC2 polymorphisms and cumulative cigarette smoking exposure in lung cancer. 11888908 Human
ercc2 lung cancer We investigated two ERCC2 polymorphisms, Asp312Asn and Lys751Gln, in 1092 Caucasian lung cancer patients and 1240 spouse and friend controls. 11888908 Human
ercc2 lung cancer In conclusion, cumulative cigarette smoking modifies the associations between ERCC2 polymorphisms and lung cancer risk. 11888908 Human
xpd primary lung cancer Lys751Gln polymorphism in the DNA repair gene XPD and risk of primary lung cancer. 11891028 Human
xpd xeroderma pigmentosum (xp) Inherited mutations in the XPD subunit of the general transcription/repair factor TFIIH yield the rare genetic disorder Xeroderma pigmentosum (XP), the phenotypes of which cannot be explained solely on the basis of a DNA repair defect. 11955452 Human
xpd lung cancer The XPD variant alleles are associated with increased aromatic DNA adduct level and lung cancer risk. 11960912 Human
xpd lung cancer In order to study the functional impact of the common polymorphisms in XPD exon 10 (G > A, Asp312Asn) and exon 23 (A > C, Lys751Gln), we have genotyped 185 Swedish lung cancer cases (97 smokers and 88 never-smokers) and 162 matched population controls (83 11960912 Human
xpd increased lung cancer We conclude that the XPD variant alleles may be associated with reduced repair of aromatic DNA adducts in general and increased lung cancer risk among never-smokers. 11960912 Human
xpd human tumor Several NER genes in this pathway including XPB, XPD, XPA and ERCC-1 have been implicated in anticancer drug resistance in human tumor cells. 12045463 Human
xpd human tumor Our present data demonstrate that XPD protein levels correlate with resistance to alkylating agents in human tumor cell lines suggesting that XPD is implicated in the development of this resistance. 12045463 Human
xpd xeroderma pigmentosum group d Mutations in the XPD gene in xeroderma pigmentosum group D cell strains: confirmation of genotype-phenotype correlation. 12116233 Human
xpd lung cancer To determine whether variations in DNA repair genes are related to host DNA damage, we investigated the association between polymorphism in the XPD gene (codon 199, 312, 751) and the XRCC1 gene (codon 194, 399) and the presence of benzo(a)pyrene diolepoxi 12115580 Human
xpd esophageal squamous-cell carcinoma Polymorphisms of DNA repair genes XRCC1 and XPD and their associations with risk of esophageal squamous cell carcinoma in a Chinese population. 12124811 Human
xpd cancer These findings suggest that DNA repair gene XRCC1 but not XPD might play a role in esophageal carcinogenesis and might represent a genetic determinant in the development of the cancer. 12124811 Human
xpd lung cancer DNA repair gene XRCC1 and XPD polymorphisms and risk of lung cancer in a Chinese population. 12151350 Human
xpd lung cancer To investigate the role of XRCC1 polymorphisms (codon 194 and codon 399) and XPD polymorphism (codon 751) in lung cancer, a population-based case-control study of 109 lung cancer patients and 109 healthy control subjects (individually matched on age and g 12151350 Human
xpd lung cancer The XPD 751 Lys allele (combined Lys/Lys and Lys/Gln genotypes) was associated with a significantly increased risk of lung cancer (OR = 3.19; CI 1.01-10.07). 12151350 Human
xpd lung cancer The risk of lung cancer increased more than additive interaction (adjusted OR = 8.77; CI 1.47-52.31) for the individuals with both putative high-risk genotypes of XRCC1 194 Trp/Trp and XPD 751 Lys allele. 12151350 Human
xpd lung cancer Our results suggested that the genotypes of XRCC1 194Trp/Trp and XPD 751 Lys allele might be the risk genotypes for lung cancer in Chinese population. 12151350 Human
xpd xp-d Here, we report that TC-NER-deficient cells [xeroderma pigmentosum group A (XP-A), XP-D, XP-F, XP-G, Cockayne syndrome group A (CS-A), and CS-B] are hypersensitive to cisplatin irrespective of their GG-NER status, and that gene complementation with XPA an 12208738 Human
xpd xp-g Here, we report that TC-NER-deficient cells [xeroderma pigmentosum group A (XP-A), XP-D, XP-F, XP-G, Cockayne syndrome group A (CS-A), and CS-B] are hypersensitive to cisplatin irrespective of their GG-NER status, and that gene complementation with XPA an 12208738 Human
xpd xp-f Here, we report that TC-NER-deficient cells [xeroderma pigmentosum group A (XP-A), XP-D, XP-F, XP-G, Cockayne syndrome group A (CS-A), and CS-B] are hypersensitive to cisplatin irrespective of their GG-NER status, and that gene complementation with XPA an 12208738 Human
xpd xp-a Here, we report that TC-NER-deficient cells [xeroderma pigmentosum group A (XP-A), XP-D, XP-F, XP-G, Cockayne syndrome group A (CS-A), and CS-B] are hypersensitive to cisplatin irrespective of their GG-NER status, and that gene complementation with XPA an 12208738 Human
xpd xeroderma pigmentosum group a Here, we report that TC-NER-deficient cells [xeroderma pigmentosum group A (XP-A), XP-D, XP-F, XP-G, Cockayne syndrome group A (CS-A), and CS-B] are hypersensitive to cisplatin irrespective of their GG-NER status, and that gene complementation with XPA an 12208738 Human
xpd squamous cell carcinoma of the head and neck DNA repair gene ERCC1 and ERCC2/XPD polymorphisms and risk of squamous cell carcinoma of the head and neck. 12220217 Human
ercc2 squamous cell carcinoma of the head and neck DNA repair gene ERCC1 and ERCC2/XPD polymorphisms and risk of squamous cell carcinoma of the head and neck. 12220217 Human
xpd squamous cell carcinoma of the head and neck OBJECTIVE: To determine the effect of the ERCC1 C8092A polymorphism and the ERCC2/XPD G23591A polymorphism on the risk of squamous cell carcinoma of the head and neck (SCCHN). 12220217 Human
ercc2 squamous cell carcinoma of the head and neck OBJECTIVE: To determine the effect of the ERCC1 C8092A polymorphism and the ERCC2/XPD G23591A polymorphism on the risk of squamous cell carcinoma of the head and neck (SCCHN). 12220217 Human
xpd xeroderma pigmentosum Mutations in XPB and XPD TFIIH helicases have been related with three hereditary human disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. 12221129 Human
xpd breast cancer Polymorphisms in the DNA repair enzyme XPD are associated with increased levels of PAH-DNA adducts in a case-control study of breast cancer. 12243508 Human
xpd breast cancer We present findings on the associations between DNA adduct levels in breast tissue, risk of breast cancer, and polymorphisms in the DNA repair enzyme XPD. 12243508 Human
xpd breast cancer XPD polymorphisms at codons 312 and 751 were associated with higher levels of PAH-DNA in tumor tissue from breast cancer cases. 12243508 Human
xpd tumor XPD polymorphisms at codons 312 and 751 were associated with higher levels of PAH-DNA in tumor tissue from breast cancer cases. 12243508 Human
xpd human tumor We have recently completed screening of the National Cancer Institute human tumor cell line panel and demonstrated that among four nucleotide excision repair proteins (XPA, XPB, XPD, and ERCC1), only the TFIIH subunit XPD endogenous protein levels correla 12359753 Human
xpd glioma In the present study, we extended this work by investigating the biological consequences of XPD overexpression in the human glioma cell line SK-MG-4. 12359753 Human
xpd bladder cancer XPD codon 751 polymorphism, metabolism genes, smoking, and bladder cancer risk. 12376500 Human
xpd xeroderma pigmentosum (xp) We have also measured TFIIH levels in cells in which different mutations in the XPD gene are associated with clinical symptoms not of TTD but of the highly cancer-prone disorder xeroderma pigmentosum (XP). 12393803 Human
xpd lung cancer Polymorphisms of the DNA repair gene XPD and risk of lung cancer in a Chinese population. 12399122 Human
xpd cancer Previous studies suggested that suboptimal DNA repair capacity is associated with cancer risk and that the Asp312Asn and Lys751Gln polymorphisms in the xeroderma pigmentosum complementary group D (XPD) gene may influence DNA repair capacity. 12399122 Human
xpd lung cancer We therefore tested the hypothesis that these two XPD polymorphisms are associated with susceptibility to lung cancer in a hospital-based, case-control study in a Chinese population. 12399122 Human
xpd basal-cell carcinoma In this paper, we present evidence that alleles of several polymorphisms in the chromosomal region 19q13.2-3, encompassing the genes RAI and XPD, are associated with occurrence of basal cell carcinoma in Caucasian Americans. 12433725 Human
xpd human tumor Several NER genes in this system including XPA, XPB, ERCC1, and ERCC2 (XPD) have been implicated in anticancer drug resistance in human tumor cells. 12451985 Human
ercc2 human tumor Several NER genes in this system including XPA, XPB, ERCC1, and ERCC2 (XPD) have been implicated in anticancer drug resistance in human tumor cells. 12451985 Human
xpd human tumor CONCLUSION: Our present data demonstrate that XPD protein levels correlate with resistance to alkylating agents in human tumor cell lines, suggesting that XPD plays an important role in the development of this resistance. 12451985 Human
xpd esophageal squamous-cell carcinoma We summarized here the results of published case-control studies that have examined the effects of common alleles of 15 genes, MTHFR, CYP1A1, CYP2A6, CYP2E1, GSTM1, GSTT1, GSTP1, NAT2, XRCC1, XPD, hOGG1, MGMT, p53, CNDD1 and L-Myc, on risk of esophageal s 12883749 Human
xpd prostate cancer DNA repair gene XRCC1 and XPD polymorphisms and risk of prostate cancer. 14744728 Human
xpd cancers A growing body of evidence suggests that XRCC1 and XPD are important in environmentally induced cancers, and polymorphisms in both genes have been identified. 14744728 Human
xpd prostate cancer To determine whether the XRCC1 (codon Arg399Gln) and XPD (codon Asp312Asn and codon Lys751Gln) polymorphisms are associated with prostate cancer susceptibility, we genotyped these polymorphisms in a primarily Caucasian sample of 506 sibships (n = 1,117) a 14744728 Human
xpd prostate cancer In summary, our results suggest that the XPD codon 312 Asn allele may exert a modest positive effect on prostate cancer risk when two copies of the allele are present, and this effect is enhanced by the XRCC codon 399 Gln allele in its recessive state. 14744728 Human
xpd xeroderma pigmentosum (xp) Mutations in the XPD gene are associated with three complex clinical phenotypes, namely xeroderma pigmentosum (XP), XP in combination with Cockayne syndrome (XP-CS), and trichothiodystrophy (TTD). 11182546 Human
xpd xeroderma pigmentosum (xp) Different mutations in XPD give rise to three ultraviolet-sensitive syndromes: the skin cancer-prone disorder xeroderma pigmentosum (XP), in which repair of ultraviolet damage is affected; and the severe neurodevelopmental conditions Cockayne syndrome (CS 11242112 Human
xpd melanoma Nucleotide excision repair gene XPD polymorphisms and genetic predisposition to melanoma. 11238179 Human
xpd melanoma To investigate this hypothesis we have compared the frequency of polymorphisms in exons 6, 22 and 23 of the XPD gene in melanoma patients and a control group. 11238179 Human
xpd melanoma Importantly, this association did not extend to markers immediately flanking the XPD gene, thus providing evidence that XPD gene polymorphisms might predispose to melanoma in the general population. 11238179 Human
xpd melanoma There is a report that one of the polymorphic XPD alleles (exon 23 Lys), which is over-represented in the melanoma group, has reduced repair proficiency and we discuss the possibility that this is the causal change to the XPD gene that predisposes to mela 11238179 Human
xpd lung cancer Modulation of nucleotide excision repair capacity by XPD polymorphisms in lung cancer patients. 11245433 Human
xpd lung cancer We therefore examined XPD polymorphisms at Lys751Gln and Asp312Asn in 341 white lung cancer cases and 360 age-, sex-, ethnicity-, and smoking-matched controls accrued in a hospital-based molecular epidemiological study of susceptibility markers for lung c 11245433 Human
xpd non-small-cell lung cancer The frequencies of several amino acid substitutions in XRCC1 (Arg194Trp, Arg280His and Arg399Gln), XRCC3 (Thr241Met), XPD (Ile199Met, His201Tyr, Asp312Asn and Lys751Gln) and XPF (Pro379Ser) genes were studied in 96 non-small-cell lung cancer (NSCLC) cases 11285194 Human
xpd lung cancer The XPD codon 312 Asp/Asp genotype was found to have almost twice the risk of lung cancer when the Asp/Asn + Asn/Asn combined genotype served as reference [odds ratio (OR) 1.86, 95% confidence interval (CI), 1.02-3.40]. 11285194 Human
xpd bladder cancer XPD and XRCC1 appear to have no impact on the risk of bladder cancer. 11304692 Human
ercc2 glioma Although the pattern of association observed here is consistent with a role of ERCC2 variants in the prevention or causation of glioma, these results are also consistent with the possibility that another gene linked to ERCC2 may be involved. 11319176 Human
xpd xeroderma pigmentosum Mutations in the XPD gene generate the cancer-prone syndrome xeroderma pigmentosum, Cockayne's syndrome, and trichothiodystrophy. 11334141 Human
xpd basal-cell carcinoma Polymorphisms of the DNA repair gene XPD: correlations with risk of basal cell carcinoma revisited. 11375896 Human
xpd xeroderma pigmentosum group d The nucleotide excision repair defect of the other reported patients with PIBI(D)S falls generally into the same group as xeroderma pigmentosum group D and carry a mutation on the same repair gene (XPD). 11451329 Human
xpd xeroderma pigmentosum (xp) Another class of patients with CS symptoms have mutations in the XPB, XPD, or XPG genes, which result in UV hypersensitivity as well as defective global NER; such patients may concurrently have clinical features of another NER syndrome, xeroderma pigmento 11443545 Human
xpd xeroderma pigmentosum Xeroderma pigmentosum cells deficient in the NER genes XPG, XPA, XPD or XPF were resistant to Et743, and sensitivity was restored by complementation with wild-type genes. 11479630 Human
xpd lung cancer No association between the XPD (Lys751G1n) polymorphism or the XRCC3 (Thr241Met) polymorphism and lung cancer risk. 11489761 Human
xpd oral squamous-cell carcinomas Loss of heterozygosity (LOH) analysis, using the microdissected tissues, for the XPA, XPB, XPC, XPD, XPE, XPF, XPG and the transcription-coupled repair factor, Cockayne syndrome B (CSB) revealed that NER factors were abnormal in 30.0% (3/10 cases) of oral 11496330 Human
xpd xeroderma pigmentosum group d A photosensitive form of trichothiodystrophy (TTD) results from mutations in the same XPD gene as the DNA-repair-deficient genetic disorder xeroderma pigmentosum group D (XP-D). 15009740 Human
xpd xp-d A photosensitive form of trichothiodystrophy (TTD) results from mutations in the same XPD gene as the DNA-repair-deficient genetic disorder xeroderma pigmentosum group D (XP-D). 15009740 Human
xpd skin cancers Recent molecular epidemiological studies have identified polymorphisms in the XPD gene that are associated with increased risk of brain gliomas and head, neck, lung, and skin cancers. 11606376 Human
xpd ovarian tumors Loss of heterozygosity (LOH) analysis for the XP, XPA, XPB, XPC, XPD, XPE, XPF, XPG and the transcription-coupled repair factor, Cockayne syndrome B (CSB) revealed that NER factors were abnormal in 62.1 % of ovarian tumors (18/29), 16.7% of colon (2/12) a 11689286 Human
xpd carcinomas Loss of heterozygosity (LOH) analysis for the XP, XPA, XPB, XPC, XPD, XPE, XPF, XPG and the transcription-coupled repair factor, Cockayne syndrome B (CSB) revealed that NER factors were abnormal in 62.1 % of ovarian tumors (18/29), 16.7% of colon (2/12) a 11689286 Human
xpd xeroderma pigmentosum Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene. 11709541 Human
xpd xeroderma pigmentosum (xp) Mutations in XPD that affect DNA repair but not transcription result in the skin cancer-prone disorder, xeroderma pigmentosum (XP). 11709541 Human
xpd xeroderma pigmentosum (xp) Mutations in the XPD helicase component of TFIIH can result in the diverse clinical features associated with xeroderma pigmentosum (XP) and trichothiodystrophy (TTD). 11734544 Human
xpd cancer Mutations in several DExH-containing DNA helicases, including XPD, XPB, WRN, and BLM, are associated with rare familial cancer syndromes characterized by genomic instability and cancer susceptibility. 11765063 Human
xpd familial cancer syndromes Mutations in several DExH-containing DNA helicases, including XPD, XPB, WRN, and BLM, are associated with rare familial cancer syndromes characterized by genomic instability and cancer susceptibility. 11765063 Human
xpd breast cancer In a case-cohort study, we have investigated the occurrence of lung cancer in relation to a high-risk haplotype, previously identified for breast cancer among post-menopausal women, and in relation to the closely linked polymorphisms XPD Asp312Asn and Lys 14757194 Human
xpd lung cancer In a case-cohort study, we have investigated the occurrence of lung cancer in relation to a high-risk haplotype, previously identified for breast cancer among post-menopausal women, and in relation to the closely linked polymorphisms XPD Asp312Asn and Lys 14757194 Human
xpd lung cancer Female homozygous carriers of the variant allele of XPD Lys751Gln were at significantly increased risk of lung cancer in the two younger age-intervals (50-55 years: RR=5.60, 95% CI=1.18-26.45, 56-60 years: RR=10.60, 95% CI=1.50-75.64). 14757194 Human
xpd lung cancer Among men, carriers of the variant allele of XPD Lys751Gln had a non-significantly increased risk of lung cancer in the youngest age interval (RR=6.38, 95% CI=0.74-54.90). 14757194 Human
xpd cancer When the polymorphisms in XPD Asp312Asn and Lys751Gln were mutually adjusted, XPD Asp312Asn was not associated with increased risk of cancer. 14757194 Human
xpd xeroderma pigmentosum (xp) To provide an explanation of some clinical features observed within rare xeroderma pigmentosum (XP) patients and to further define the role of XPB, XPD, and cdk7, the three enzymatic subunits of TFIIH, in the transcription reaction, we have examined two d 10644710 Human
ercc2 tumor Finally, we find that M68 lies within a four-gene cluster that includes a novel helicase-like gene (NHL) related to RAD3/ERCC2, a plasma membrane Ras-related GTPase and a member of the stathmin family, amplification or overexpression of which may also con 10655513 Human
xpd xeroderma pigmentosum Mutations in the DNA-dependent ATPase/helicase subunits of TFIIH, XPB and XPD, are associated with three inherited syndromes as follows: xeroderma pigmentosum with or without Cockayne syndrome and trichothiodystrophy. 10660593 Human
xpd xp-d The aberrant damage-dependent DNA synthesis caused by the mutant XPD does not lead to effective repair, consistent with the discrepancy between repair synthesis and survival in cells from a number of XP-D patients. 10660593 Human
xpd xeroderma pigmentosum (xp) The DNA repair-deficient genetic disorders xeroderma pigmentosum (XP) and trichothiodystrophy (TTD) can both result from mutations in the XPD gene, the sites of the mutations differing between the two disorders. 10667598 Human
xpd xp-d However, we also discovered that a subset of TTD cells, in which arg112 in the NH2-terminal region of the XPD protein is mutated to histidine, had an ICAM-1 response similar to that of XP-D cells. 10667598 Human
xpd human ovarian cancer Absence of evidence for allelic loss or allelic gain for ERCC1 or for XPD in human ovarian cancer cells and tissues. 10738106 Human
xpd human ovarian cancer We have previously reported on mRNA expression of ERCC1, XPA and XPD in human ovarian cancer cells and tissues. 10738106 Human
xpd malignant glioma Alterations in gene copy number for ERCC1 and/or XPD have been reported to occur in malignant glioma specimens. 10738106 Human
xpd ovarian cancer Genomic DNA was also extracted from ovarian cancer specimens taken from 22 patients and assessed for evidence of allelic loss and/or allelic gain for ERCC1 and XPD. 10738106 Human
xpd skin cancer Rare XPD mutations diminish nucleotide excision repair resulting in hypersensitivity to UV light and increased risk of skin cancer. 10753184 Human
xpd bladder cancer Polymorphisms of the DNA repair genes XRCC1, XRCC3, XPD, interaction with environmental exposures, and bladder cancer risk in a case-control study in northern Italy. 14652287 Human
xpd bladder cancer A hospital-based case-control study was conducted in Brescia, Italy, to assess the relationship between polymorphisms in DNA repair genes XRCC1 (Arg(399)Gln), XRCC3 (Thr(241)Met), and XPD (Lys(751)Gln) and bladder cancer risk. 14652287 Human
xpd bladder cancer XPD polymorphisms did not show an association with bladder cancer (OR, 0.92; 95% CI, 0.62-1.37). 14652287 Human
xpd bladder cancer The XPD polymorphism was not, however, associated with bladder cancer risk. 14652287 Human
xpd xeroderma pigmentosum The repair of the endogenous lesion 8-oxo-7,8-dihydrodeoxyguanosine (8-oxodG) was investigated in the nucleotide excision repair mutant xeroderma pigmentosum D (XPD), using human normal or transformed XPD fibroblasts and the Chinese hamster XPD cell line 10956030 Human
xpd cutaneous malignant melanoma XPD gene polymorphism and host characteristics in the association with cutaneous malignant melanoma risk. 14735199 Human
xpd melanoma Similar to our previous report, no significant association between XPD polymorphisms and melanoma risk was found in 176 melanoma cases and 177 controls (odds ratio (OR)=1.5, 95% confidence interval (CI)=0.9-2.5 for 312Asn; OR=1.3, 95% CI=0.8-2.1 for 751Gl 14735199 Human
xpd melanoma Subjects with low tanning ability and XPD variants exhibited a nonsignificant increase of melanoma risk (OR=2.3, 95% CI=0.7-7.0 for 312Asn; OR=3.0, 95% CI=1.0-8.8 for 751Gln). 14735199 Human
xpd melanoma XPD variants may modify melanoma risk in subjects with specific host characteristics, such as older age, lack of dysplastic naevi or low tanning ability. 14735199 Human
xpd cancer Because we previously reported that patients with squamous cell carcinoma of the head and neck (SCCHN) had lower DNA repair capacity than healthy controls, we hypothesized that inherited polymorphisms of XPD may contribute to genetic susceptibility to SCC 11133811 Human
xpd squamous cell carcinoma of the head and neck Because we previously reported that patients with squamous cell carcinoma of the head and neck (SCCHN) had lower DNA repair capacity than healthy controls, we hypothesized that inherited polymorphisms of XPD may contribute to genetic susceptibility to SCC 11133811 Human
xpd xeroderma pigmentosum Mutations in XPB and XPD can result in xeroderma pigmentosum, Cockayne syndrome, or trichothiodystrophy. 11701636 Human
ercc2 human tumor This study suggests that in human tumor cell lines both EMT and DNA repair factors, specifically, MGMT and ERCC2, are important determinants of SarCNU activity. 10632359 Human
xpd basal-cell carcinoma Polymorphisms in the DNA repair gene XPD: correlations with risk and age at onset of basal cell carcinoma. 9950243 Human
xpd basal-cell carcinoma (bcc) We have studied the role of two nucleotide substitutions in the XPD gene, one in exon 23 leading to an amino acid substitution (Lys751Gln) and one silent in exon 6 in relation to basal cell carcinoma (BCC). 9950243 Human
xpd xeroderma pigmentosum Mutations in XPB and XPD helicases found in xeroderma pigmentosum patients impair the transcription function of TFIIH. 10064601 Human
xpd xeroderma pigmentosum Mutations in the XPD gene generate the cancer-prone syndrome, xeroderma pigmentosum, Cockayne's syndrome, and trichothiodystrophy. 10198066 Human
xpd xeroderma pigmentosum (xp) Patients with the nucleotide excision repair (NER) disorder xeroderma pigmentosum (XP) are highly predisposed to develop sunlight-induced skin cancer, in remarkable contrast to photosensitive NER-deficient trichothiodystrophy (TTD) patients carrying mutat 10416615 Human
xpd skin cancer Patients with the nucleotide excision repair (NER) disorder xeroderma pigmentosum (XP) are highly predisposed to develop sunlight-induced skin cancer, in remarkable contrast to photosensitive NER-deficient trichothiodystrophy (TTD) patients carrying mutat 10416615 Human
xpd tumor To understand the relationship between deficient NER and tumor susceptibility, we used a mouse model for TTD that mimics an XPD point mutation of a TTD patient in the mouse germline. 10416615 Mouse
xpd xeroderma pigmentosum (xp) We previously reported that p53-mediated apoptosis is attenuated in primary human fibroblasts from individuals with Xeroderma Pigmentosum (XP) that harbor mutations in the TFIIH DNA helicases XPD or XPB. 10467415 Human
xpd cancer In this study we show that apoptosis is reduced and delayed in three XPD lymphoblastoid cell lines (LCLs), but not in an XPD heterozygote LCL, after exposure to doxorubicin, a DNA-damaging agent and topoisomerase II inhibitor frequently used in cancer the 10467415 Human
xpd xeroderma pigmentosum Mutations in the largest subunits, the XPB and XPD helicases, are associated with three inherited disorders: xeroderma pigmentosum, Cockayne's syndrome, and trichothiodystrophy. 9422774 Human
xpd xeroderma pigmentosum We also observed weak constitutive fragility of the RNU1 and RNU2 loci in cells belonging to xeroderma pigmentosum complementation groups B and D (XPB and XPD) which are partially defective in the ERCC2 (XPD) and ERCC3 (XPB) helicase activities shared bet 9557707 Human
ercc2 xeroderma pigmentosum We also observed weak constitutive fragility of the RNU1 and RNU2 loci in cells belonging to xeroderma pigmentosum complementation groups B and D (XPB and XPD) which are partially defective in the ERCC2 (XPD) and ERCC3 (XPB) helicase activities shared bet 9557707 Human
ercc2 glioma In this study, we compared excision repair cross-complementing rodent repair deficiency Gene 2 (ERCC2), an important component of the nucleotide excision repair system, with 1 ,3-bis-(2-chloroethyl)-1-nitrosourea or (2-chloroethyl)-3-sarcosinamide-1-nitro 9588557 Human
xpd xeroderma pigmentosum group d In most cases, xeroderma pigmentosum group D (XP-D) and trichothiodystrophy (TTD) patients carry mutations in the carboxy-terminal domain of the evolutionarily conserved helicase XPD, which is one of the subunits of the transcription/repair factor TFIIH ( 9771713 Human
xpd xp-d In most cases, xeroderma pigmentosum group D (XP-D) and trichothiodystrophy (TTD) patients carry mutations in the carboxy-terminal domain of the evolutionarily conserved helicase XPD, which is one of the subunits of the transcription/repair factor TFIIH ( 9771713 Human
xpd xp-d In this paper we report that correction of the repair defect by retroviral-mediated transduction of the wild-type XPD gene in XP-D and TTD/XP-D untransformed primary fibroblasts leads to a normal p53 response in these cells. 9771945 Human
xpd cancer In this study, the mRNA levels of the different genes involved in NER (ERCC1, XPA, XPB, XPC, XPD, XPF) were examined in a panel of eight different human cancer cell lines, together with the overall DNA repair capacity using a host cell reactivation assay 9893669 Human
ercc-2 human tumor Quantitation of ERCC-2 gene expression in human tumor cell lines by reverse transcription-polymerase chain reaction in comparison to northern blot analysis. 9025907 Human
ercc-2 primary tumor ERCC-2 gene expression is low in primary tumor samples rendering it difficult to quantitate. 9025907 Human
xpd xeroderma pigmentosum Mutations in the XPD gene leading to xeroderma pigmentosum symptoms. 9101292 Human
xpd skin cancer Although in both syndromes this defect is based on mutations in the same gene, XPD, only XP-D, not TTD, individuals have an increased risk of skin cancer. 9192652 Human
xpd xp-d Although in both syndromes this defect is based on mutations in the same gene, XPD, only XP-D, not TTD, individuals have an increased risk of skin cancer. 9192652 Human
xpd xp-d Transfection of XP-D cells with the wild-type XPD cDNA, but not with XPC cDNA, corrected this abnormal phenotype. 9192652 Human
ercc2 brain tumors We previously reported that abnormalities of mRNA expression of ERCC1 and ERCC2 may be characteristic of epithelial ovarian carcinoma and brain tumors. 9234918 Human
ercc2 epithelial ovarian carcinoma We previously reported that abnormalities of mRNA expression of ERCC1 and ERCC2 may be characteristic of epithelial ovarian carcinoma and brain tumors. 9234918 Human
xpd xeroderma pigmentosum Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene. 9238033 Human
ercc2 xeroderma pigmentosum Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene. 9238033 Human
xpd human tumor We examined the O6-methylguanine-DNA methyltransferase (MGMT) protein as well as MGMT activity levels and the excision repair cross-complementing rodent repair deficiency gene, ERCC2 (XPD), protein levels in 14 human tumor cell lines not selected for chlo 9351972 Human
ercc2 human tumor We examined the O6-methylguanine-DNA methyltransferase (MGMT) protein as well as MGMT activity levels and the excision repair cross-complementing rodent repair deficiency gene, ERCC2 (XPD), protein levels in 14 human tumor cell lines not selected for chlo 9351972 Human
xpd xeroderma pigmentosum Defects in the XPB, XPD, and XPG genes can result in three different syndromes, xeroderma pigmentosum, Cockayne syndrome, or trichothiodystrophy, depending on the specific mutation involved. 9425594 Human
xpd tumor In humans, mutation of the XPB or XPD gene impairs NER, resulting in hyper-sensitivity to sunlight and greatly increased skin tumor formation. 9427533 Human
xpd xp-d The purpose of this study was to define the signals transmitted after UV-C-induced DNA damage, which activates p53 accumulation in TTD/XP-D fibroblasts, and compare this with XP-D cell lines that carry different mutations in the same gene, XPD. 9433478 Human
xpd non-small cell lung cancer Association of the DNA repair gene XPD Asp312Asn polymorphism with p53 gene mutations in tobacco-related non-small cell lung cancer. 12844488 Human
xpd lung cancer The objective of this study is to investigate the relationship between the polymorphisms of two DNA repair genes, the nucleotide excision repair xeroderma pigmentosum group D (XPD) gene (codons 312 and 751) and the base excision repair X-ray repair cross- 12844488 Human
xpd tumors Lung tumors from 204 smokers with non-small cell lung cancer (NSCLC) were analyzed for mutations in exons 5-8 of the p53 gene and genotypes of XPD and XRCC1. p53 mutations were found in 20% (40/204) of the patients. 12844488 Human
xpd non-small cell lung cancer Lung tumors from 204 smokers with non-small cell lung cancer (NSCLC) were analyzed for mutations in exons 5-8 of the p53 gene and genotypes of XPD and XRCC1. p53 mutations were found in 20% (40/204) of the patients. 12844488 Human
xpd xeroderma pigmentosum (xp) At least two of the subunits of TFIIH (XPB and XPD proteins) are implicated in the disease xeroderma pigmentosum (XP). 8652557 Human
xpd xeroderma pigmentosum (xp) Whereas transfer of a wild-type p53 expression vector by microinjection or retroviral infection into primary normal human fibroblasts resulted in apoptosis, primary fibroblasts from individuals with xeroderma pigmentosum (XP), who are deficient in DNA rep 8675009 Human
ercc-2 human tumor Correlation of chloroethylnitrosourea resistance with ERCC-2 expression in human tumor cell lines as determined by quantitative competitive polymerase chain reaction. 8653679 Human
ercc-2 tumor We have developed a method to quantitate ERCC-2 gene expression in tumor cell lines. 8653679 Human
ercc-2 human tumor A mutant ERCC-2 DNA fragment (1-bp mutation) is used as a competitive DNA template in a coamplification PCR reaction with cDNA obtained by reverse transcribing DNase-free total RNA from six human tumor cell lines. 8653679 Human
ercc-2 ovarian cancer Ovarian cancer cell lines showed amplification and overexpression of the AKT2 putative oncogene, but not the ERCC-2 DNA repair gene in this chromosomal region. 8646743 Human
xpd xeroderma pigmentosum (xp) Human cells from patients suffering with xeroderma pigmentosum (XP) characterized by extreme sensitivity to UV light and a high incidence of skin tumors fall into seven complementation groups, XPA to XPG, and are lacking a functional helicase, endonucleas 8687116 Human
xpd tumors Human cells from patients suffering with xeroderma pigmentosum (XP) characterized by extreme sensitivity to UV light and a high incidence of skin tumors fall into seven complementation groups, XPA to XPG, and are lacking a functional helicase, endonucleas 8687116 Human
xpd xp-d The deficiency is assigned to the XP-D complementation group, and we have identified two causative mutations in the XPD gene: a gly-->arg change at amino acid 675 in the allele inherited from the patient's mother and a -1 frameshift at amino acid 669 7825573 Human
xpd tumors Influence of common XPD and XRCC1 variant alleles on p53 mutations in lung tumors. 12552590 Human
xpd lung cancer Common variant alleles at the XPD (312Asn, 751Gln) and XRCC1 (399Gln) loci have been identified and associated with increased risk for lung cancer. 12552590 Human
xpd tumors We conclude that the XPD variant alleles may be associated with an increased frequency of smoking-related p53 mutations in lung tumors, presumably due to reduced DNA repair proficiency. 12552590 Human
xpd xeroderma pigmentosum (xp) Mutations in the human XPD gene result in a defect in nucleotide excision repair of ultraviolet damaged DNA and cause the cancer-prone syndrome xeroderma pigmentosum (XP). 7629061 Human
ercc2 lung carcinoma Efficacy of Acylfulvene Illudin analogues against a metastatic lung carcinoma MV522 xenograft nonresponsive to traditional anticancer agents: retention of activity against various mdr phenotypes and unusual cytotoxicity against ERCC2 and ERCC3 DNA helicas 7585533 Human
ercc2 tumor Promising features of this new analogue are: (a) the retention of in vitro activity against a variety of mdr tumor phenotypes including gp170+, gp150+, GSHTR-Pi, topoisomerase I, and topoisomerase II mutants; and (b) an apparent selective cytotoxicity tow 7585533 Human
ercc2 xeroderma pigmentosum group d Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D. Xeroderma pigmentosum (XP) is a sun-sensitive, cancer-prone genetic disorder characterized by a defect in nucleotide excision repair. 7585650 Human
ercc2 xp-d The genetic disorder trichothiodystrophy (which is not cancer-prone) can also result from mutations in the ERCC2 gene, some of which are the same as those found in XP-D. 7585650 Human
xpd human tumor At the preclinical level, ERCC1 and XPD mRNA expression correlate with each other, and overexpression of XPD causes selective cisplatin resistance in human tumor cell lines. 12917817 Human
ercc2 glioma Enhancing alkylating agent resistance through ERCC2 gene transfection in human glioma cell line. 12935404 Human
ercc2 glioma The pcDNA3-ERCC2 was transfected into a selected ERCC2 negative human glioma cell line, SKMG-4, using liposome-mediated transfection. 12935404 Human
ercc2 glioma CONCLUSION: The present data provided evidences and confirmed the authors' previous results that ERCC2 contributes, at least partially, to alkylating agent resistance in human glioma cell line. 12935404 Human
xpd xp-d Efficient integration, mRNA synthesis, and protein expression of the XPD gene were obtained in all LXPDSN-transduced XP-D fibroblasts tested. 8590735 Human
ercc2 tumors Three tumors (all lower grade) showed concurrent allelic loss of ERCC1 and ERCC2. 8583241 Human
ercc2 glial tumors Abnormalities in copy number of ERCC1 and ERCC2 are common in glial tumors. 8583241 Human
xpd xeroderma pigmentosum Mutations in XPD, besides causing the cancer-prone syndrome xeroderma pigmentosum, can also result in Cockayne's syndrome and trichothiodystrophy. 8107780 Human
ercc-2 xp-d The ERCC-2 gene (excision repair cross-complementing rodent repair deficiency of group 2) has recently been identified as a strong candidate gene for XP-D, since it restores normal UV sensitivity to XP-D cells after transfection. 7510365 Human
ercc-2 xp-d Using Southern blotting, we have analysed the ERCC-2 gene in DNA samples from 28 members of nine Italian families with individuals affected by XP-D (three patients) or by TTD with photosensitivity due to the XP-D defect (eight patients). 7510365 Human
ercc-2 xp-d No major modifications of the ERCC-2 gene were detected with two cDNA probes in either XP-D or TTD patients indicating that the association between TTD and XP-D is not likely to result from a large deletion or rearrangement involving this gene. 7510365 Human
xpd xeroderma pigmentosum group d Remarkable homology exists between RAD3 and the human excision repair gene XPD, whose mutational inactivation underlies the cancer-prone disorder in xeroderma pigmentosum group D patients. 8132553 Human
xpd lung cancer Polymorphisms in the DNA repair genes XPD, XRCC1, XRCC3, and APE/ref-1, and the risk of lung cancer among male smokers in Finland. 12618330 Human
xpd lung cancer Associations between lung cancer risk and common polymorphisms in the DNA repair genes xeroderma pigmentosum complementation group D (XPD), X-ray repair cross-complementing group 1 (XRCC1), XRCC3 and apurinic/apyrimidinic endonuclease/redox factor 1 were 12618330 Human
xpd cancer Associations between lung cancer risk and common polymorphisms in the DNA repair genes xeroderma pigmentosum complementation group D (XPD), X-ray repair cross-complementing group 1 (XRCC1), XRCC3 and apurinic/apyrimidinic endonuclease/redox factor 1 were 12618330 Human
xpd lung cancer We found no direct association between lung cancer risk and any of the DNA repair genotypes studied, however, the association between XPD codon 751 genotype and lung cancer was modified by alpha-tocopherol supplementation, and the association between XRCC 12618330 Human
ercc2 xeroderma pigmentosum (xp) ERCC2 is involved in the DNA repair syndrome xeroderma pigmentosum (XP) group D and was found to copurify with the RNA polymerase II (B) transcription factor BTF2/TFIIH that possesses a bidirectional helicase activity. 8194528 Human
ercc2 skin cancer Two of them, ERCC2 and ERCC3, are responsible for atypical forms of XP disorders which confer a high predisposition to skin cancer. 8194528 Human
ercc2 xeroderma pigmentosum group d The human DNA repair gene, ERCC2 (XPD), corrects ultraviolet hypersensitivity and ultraviolet hypermutability of a shuttle vector replicated in xeroderma pigmentosum group D cells. 8033104 Human
xpd xeroderma pigmentosum group d The human DNA repair gene, ERCC2 (XPD), corrects ultraviolet hypersensitivity and ultraviolet hypermutability of a shuttle vector replicated in xeroderma pigmentosum group D cells. 8033104 Human
ercc2 xeroderma pigmentosum complementation group d To determine the contribution of a human DNA repair gene, ERCC2 (XPD), to mutagenesis in human cells, two ERCC2 (XPD)-transformed xeroderma pigmentosum complementation group D (XPD) cell lines with increased UV survival compared to XP6BE(SV40), the origin 8033104 Human
xpd xeroderma pigmentosum complementation group d To determine the contribution of a human DNA repair gene, ERCC2 (XPD), to mutagenesis in human cells, two ERCC2 (XPD)-transformed xeroderma pigmentosum complementation group D (XPD) cell lines with increased UV survival compared to XP6BE(SV40), the origin 8033104 Human
ercc2 xeroderma pigmentosum complementation group d The human DNA excision repair gene, ERCC2 (XPD), substantially corrected the plasmid UV hypersensitivity and UV hypermutability of xeroderma pigmentosum complementation group D cells; however, the dose response relationship varied for different end points 8033104 Human
xpd xeroderma pigmentosum complementation group d The human DNA excision repair gene, ERCC2 (XPD), substantially corrected the plasmid UV hypersensitivity and UV hypermutability of xeroderma pigmentosum complementation group D cells; however, the dose response relationship varied for different end points 8033104 Human
ercc2 tumors The requirement for ERCC2 and ERCC3, combined with the finding that ERCC1 but not ERCC2 is upregulated in drug-resistant tumors, may explain the efficacy of illudins against drug-resistant tumors. 8053936 Human
ercc2 xp-d Recently, the human excision repair gene ERCC2 has been shown to correct the UV sensitivity of XP-D fibroblasts. 8055625 Human
ercc2 xp-d In this work we describe the effect of ERCC2 on the DNA repair deficient phenotype of XP-D and on two repair-defective TTD cell strains (TTD1VI and TTD2VI) assigned by complementation analysis to group D of XP. 8055625 Human
ercc2 xp-d These data show that a functional ERCC2 gene is sufficient to reestablish a wild-type DNA repair phenotype in TTD1VI and TTD2VI cells, confirming the genetic relationship between TTD and XP-D. 8055625 Human
ercc2 xp-d Furthermore, our findings suggest that mutations at the ERCC2 locus are responsible for causing a similar phenotype in TTD and XP-D cells in response to UV irradiation, but produce quite different clinical symptoms. 8055625 Human
ercc2 xp-d Following the discovery that the human excision repair cross complementing rodent ultraviolet group 2 (ERCC2) gene is able to correct the ultraviolet sensitivity of XP-D cell strains, the ERCC2 cDNA from previous TTD patients was sequenced and shows frame 7963680 Human
ercc2 xp-d These cellular phenotypes are amenable to experimental strategies employing complementation, an approach previously used to demonstrate the correction of XP-D phenotypes following the introduction of the XPD (ERCC2) gene. 7849702 Human
xpd xp-d These cellular phenotypes are amenable to experimental strategies employing complementation, an approach previously used to demonstrate the correction of XP-D phenotypes following the introduction of the XPD (ERCC2) gene. 7849702 Human
xpd xp-d Although expression of the normal XPD cDNA could be shown to correct the UV sensitivity phenotype in XP-D cells, cDNA constructs bearing either of the two mutations failed to yield complementation. 7849702 Human
ercc2 xp-d These results confirm the role of ERCC2 in XP-D and illustrate the power of utilizing cellular phenotypes to evaluate the significance of single nucleotide substitutions. 7849702 Human
ercc2 cancer The patterns of expression of 3 human DNA-repair genes (ERCC1, ERCC2, ERCC6) were assessed in 52 bone-marrow specimens obtained from cancer patients prepared for autologous bone-marrow transplantation. 7678143 Human
ercc2 lung cancer Polymorphisms in the DNA repair genes XRCC1 and ERCC2, smoking, and lung cancer risk. 12692111 Human
ercc2 lung cancer We have described statistically significant interactions between the ERCC2 polymorphisms (Asp312Asn and Lys751Gln) and smoking in lung cancer risk. 12692111 Human
ercc2 lung cancer In this case-control study of 1091 Caucasian lung cancer patients and 1240 controls, we explored the gene-environment interactions between the XRCC1 Arg399Gln polymorphism, alone or in combination with the two ERCC2 polymorphisms, and cumulative smoking e 12692111 Human
ercc2 lung cancer In conclusion, cumulative cigarette smoking plays an important role in altering the direction and magnitude of the associations between the XRCC1 and ERCC2 polymorphisms and lung cancer risk. 12692111 Human
ercc2 xeroderma pigmentosum complementation group d Correction of xeroderma pigmentosum complementation group D mutant cell phenotypes by chromosome and gene transfer: involvement of the human ERCC2 DNA repair gene. 1729695 Human
ercc2 xp-d Direct transfer of a cosmid bearing the ERCC2 gene conferred UV resistance to XP-D cells. 1729695 Human
xpd lung cancer Sequence variations in the DNA repair gene XPD and risk of lung cancer in a Chinese population. 12740916 Human
xpd lung cancer We thus examined the hypothesis that these 2 XPD polymorphisms are associated with risk of lung cancer via a large hospital-based, case-control study among Chinese. 12740916 Human
xpd lung cancer XPD genotypes were determined using PCR-RFLP techniques, and the associations between genotypes and risk of lung cancer were estimated by odds ratios (ORs) and their 95% confidence intervals (CIs) calculated by unconditional logistic regression. 12740916 Human
xpd skin cancer We undertook the first study to examine whether genetic susceptibility, as determined by the codon 751 SNP (A-->C) of the DNA repair gene XPD, influences the risk of arsenic-induced hyperkeratotic skin lesions, precursors of skin cancer, in a case-control 12749816 Human
ercc2 ovarian cancer ERCC1 and ERCC2 expression in malignant tissues from ovarian cancer patients. 1433335 Human
ercc2 xp-d This region includes the previously described human DNA repair gene cluster located in the region 19q13.2-q13.3, a result consistent with the notion that the in vitro correction of XP-D cells by the Tneo chromosome is rendered by the ERCC2 locus. 1283322 Human
xpd xeroderma pigmentosum (xp) Mutations in the XPD gene result in xeroderma pigmentosum (XP) and trichothiodystrophy (TTD), the phenotypes of which are often intricate. 12820975 Human
xpd human tumor At the preclinical level, ERCC1 and XPD mRNA expression correlate with each other, and overexpression of XPD causes selective cisplatin resistance in human tumor cell lines. 14668933 Human
xpd urinary bladder cancer We investigated the association of urinary bladder cancer with genetic polymorphisms in the xeroderma pigmentosum complementation group C (XPC), group D (XPD) and group G (XPG), X-ray repair cross-complementing group 1 (XRCC1) and group 3 (XRCC3), Nijmege 14688016 Human
xpd bladder cancer For other polymorphisms included in this study, NBS1 Glu185Gln, XPD Lys751Gln, XPG Asp1104His, XRCC1 Arg399Gln, XRCC3 Thr241Met, cyclin D1 Pro242Pro, MTHFR Ala222Val and Glu429Ala, NQO1 Arg139Trp and Pro187Ser, no significant differences for genotype dist 14688016 Human
xpd colorectal cancer We have compared the frequency of polymorphisms in the NER genes, XPD, XPF, XPG, ERCC1; in the BER gene, XRCC1; and in the RR gene, XRCC3; in colorectal cancer patients and in a control group. 12865926 Human
ercc2 gliomas To narrow the location of this tumor suppressor further, we studied 138 gliomas for loss of allelic heterozygosity at six microsatellite polymorphisms between APOC2 and HRC, including a newly described polymorphism in the ERCC2 gene. 7666049 Human
ercc2 metastatic lung carcinoma Efficacy of Acylfulvene Illudin analogues against a metastatic lung carcinoma MV522 xenograft nonresponsive to traditional anticancer agents: retention of activity against various mdr phenotypes and unusual cytotoxicity against ERCC2 and ERCC3 DNA helicas 7585533 Human
ercc2 gliomas Genomic copy number changes of DNA repair genes ERCC1 and ERCC2 in human gliomas. 8583241 Human
ercc2 brain tumor ERCC1 and ERCC2. Radiodensitometry was used to assess gene copy number in samples obtained from brain tumor specimens from 24 patients. 8583241 Human
ercc2 gliomas CONCLUSION: Our results suggest that nucleotide excision repair, specifically ERCC2, may play an important role in nitrosoureas drug resistance in human gliomas. 9588557 Human
ercc2 gliomas Associations between ERCC2 polymorphisms and gliomas. 11319176 Human
ercc2 human tumors CONCLUSION: The results suggest that expression of both EMT and DNA repair genes, specifically, MGMT, ERCC2 and ERCC4, are important determinants of SarCNU activity against human tumors. 11783015 Human
ercc2 lung cancer Together with data from the present study on DNA repair genes, we did not observe significant associations between any single variant genotype for several DNA-repair and chemical-metabolizing genes (XPD [or ERCC2], XRCC1, XRCC3, GSTM1, GSTT1, MPO, and mEH 15199549 Human
ercc2 lung cancer [Expression of DNA excision repair enzymes and lung cancer prognosis] OBJECTIVE: To study the expression levels of three DNA damage excision repair enzymes: excision repair cross-complementing rodent repair deficiency gene 2 (ERCC2), uracil DNA glycosylas 15182505 Human
ercc2 lung cancer The relationship among ERCC2, UDG, and PCNA expression levels with lung cancer development and prognosis were studied using Ridit analysis method. 15182505 Human
ercc2 cancer ERCC2 and UDG levels were higher in benign tissues than those in cancer and cancer adjacent tissues, while the PCNA level was the opposite. 15182505 Human
ercc2 metastasis There were no relationship among age, smoke, cancer metastasis, cancer type and ERCC2, UDG, PCNA expression levels. 15182505 Human
ercc2 cancer There were no relationship among age, smoke, cancer metastasis, cancer type and ERCC2, UDG, PCNA expression levels. 15182505 Human
ercc2 cancer ERCC2 also showed no relationship with degree of malignancy and cancer size, while UDG and PCNA expression levels were correlated with cancer malignancy and cancer size (P < 0.05). 15182505 Human
ercc2 malignancy ERCC2 also showed no relationship with degree of malignancy and cancer size, while UDG and PCNA expression levels were correlated with cancer malignancy and cancer size (P < 0.05). 15182505 Human
ercc2 lung cancer CONCLUSION: The expression levels of ERCC2, UDG and PCNA were significantly different in benign lung tissues, lung cancer tissues and lung cancer adjacent normal tissues. 15182505 Human
ercc2 tumors ERCC2 showed no significant relationship with lung cancer prognosis, while patients with low UDG and high PCNA expressions were more likely to have higher malignancy and larger tumors. 15182505 Human
ercc2 lung cancer ERCC2 showed no significant relationship with lung cancer prognosis, while patients with low UDG and high PCNA expressions were more likely to have higher malignancy and larger tumors. 15182505 Human
ercc2 malignancy ERCC2 showed no significant relationship with lung cancer prognosis, while patients with low UDG and high PCNA expressions were more likely to have higher malignancy and larger tumors. 15182505 Human
ercc2 breast cancer ERCC2 Genotypes and a Corresponding Haplotype Are Linked with Breast Cancer Risk in a German Population. 15598761 Human
ercc2 skin cancer The nucleotide excision repair enzyme encoded by the excision repair cross-complementing group 2 gene ERCC2 (formerly XPD) known to cause skin cancer by germ line mutations has multiple regulatory cellular functions, including nucleotide excision repair, 15598761 Human
ercc2 breast cancer ERCC2 polymorphisms ERCC2-6540-G>A (Asp(312)Asn) and ERCC2-18880-A>C (Lys(751)Gln) within the coding region of this evolutionarily highly conserved gene have been of functional relevance and therefore are potential candidates to confer breast cancer susce 15598761 Human
ercc2 breast cancer To our knowledge, this is the first study assigning breast cancer risk to both the ERCC2 genotype encoding Asp(312)Asp and the haplotype encoding Asp(312)/Gln(751). 15598761 Human
ercc2 lung cancer ERCC2 /XPD Gene Polymorphisms and Lung Cancer: A HuGE Review. 15615908 Human
ercc2 lung cancer Several studies have associated polymorphisms in ERCC2 with response to platinum therapy, lung cancer risk, and DNA repair capacity. 15534626 Human
ercc2 tumor In Ashkenazi patients, ERCC2 and MTHFR genes' SNPs were associated with age at diagnosis (ERCC2: p=0.025, MTHFR: p=0.0005); a P53 polymorphism, APOE and Rb SNPs with a family history of cancer (P53 p=0.034;APOE p=0.04, Rb p= 0.022); DCC SNP with tumo 15523694 Human
ercc2 cancer In Ashkenazi patients, ERCC2 and MTHFR genes' SNPs were associated with age at diagnosis (ERCC2: p=0.025, MTHFR: p=0.0005); a P53 polymorphism, APOE and Rb SNPs with a family history of cancer (P53 p=0.034;APOE p=0.04, Rb p= 0.022); DCC SNP with tumo 15523694 Human
ercc2 basal-cell carcinoma Polymorphism in the nuclear excision repair gene ERCC2/XPD: association between an exon 6-exon 10 haplotype and susceptibility to cutaneous basal cell carcinoma. 15776433 Human
ercc2 bcc We investigated the association between BCC risk and SNPs in exon 6 (c.466C > A, dbSNP238406:g.C > A; designated C/A156), exon 10 (c.932G > A, dbSNP1799793:g.G > A; designated G/A312), and exon 23 (c.2251A > C, dbSNP13181:g.A > C; designated A/C751) of th 15776433 Human
ercc2 meningioma Intragenic SNPs in the Ki-ras and ERCC2 genes were associated with meningioma risk (odds ratio, 1.76; 95% confidence interval, 1.07-2.92 and odds ratio, 1.68; 95% confidence interval, 1.00-2.84, respectively). 15824172 Human
ercc2 meningioma Our findings suggest that Ki-ras and ERCC2 SNPs are possible markers for meningioma formation, whereas cyclin D1 and p16 SNPs may be markers of genes that have an inverse effect on the risk to develop meningioma in irradiated and nonirradiated populations 15824172 Human
ercc2 breast cancer Obesity and genetic polymorphism of ERCC2 and ERCC4 as modifiers of risk of breast cancer. 15886521 Human
ercc2 breast cancer To evaluate the relationship of genetic polymorphisms of ERCC2 and ERCC4 genes, both involved in nucleotide excision repair (NER), and the risk of breast cancer, a hospital-based case-control study was conducted in Korea. 15886521 Human
ercc2 breast cancer Although no significant association was observed between the genetic polymorphisms and the risk of breast cancer, women with both ERCC2 A allele- and ERCC4 C allele-containing genotypes showed a 2.6-fold risk (95% CI: 1.02-6.48) of breast cancer compared 15886521 Human
ercc2 breast cancer Our finding suggests that the combined effect of ERCC2 Asp(312)Asn and ERCC4 Ser(835)Ser genotypes might be associated with breast cancer risk in Korean women. 15886521 Human
ercc2 lung cancer The DNA repair gene ERCC2/XPD polymorphism Arg 156Arg (A22541C) and risk of lung cancer in a Chinese population. 15896456 Human
ercc2 oligodendrogliomas Polymorphisms in GLTSCR1 and ERCC2 are associated with the development of oligodendrogliomas. 15834925 Human
ercc2 non-small cell lung cancer ABCC5, ERCC2, XPA and XRCC1 transcript abundance levels correlate with cisplatin chemoresistance in non-small cell lung cancer cell lines. 15882455 Human
ercc2 breast cancer Common Polymorphisms in ERCC2 (Xeroderma pigmentosum D) are not Associated with Breast Cancer Risk. 16030124 Human
ercc2 cancer The protein encoded by ERCC2 is a key enzyme involved in nucleotide excision repair, in which gene defects could lead to cancer prone syndromes such as Xeroderma pigmentosum D. 16030124 Human
ercc2 invasive breast cancer We have examined the association between single nucleotide polymorphisms in the ERCC2 gene and the incidence of invasive breast cancer in three case-control series, with a maximum of 3,634 patients and of 3,340 controls. 16030124 Human
ercc2 lung cancer We studied single nucleotide polymorphisms (SNPs) and their corresponding haplotypes in 6 genes (ERCC1, ERCC2/XPD, ERCC4/XPF, ERCC5/XPG, RAD23B and XPC) involved in NER in a population-based case-control study of lung cancer in Xuan Wei. 15849729 Human
ercc2 lung cancer Three linked SNPs in ERCC2 were associated with lung cancer with similar ORs; e.g., persons with the Gln allele at codon 751 had a 60% reduction of lung cancer (OR = 0.40, 95% CI 0.18-0.89). 15849729 Human
ercc2 lung cancer Moreover, one haplotype in ERCC2 was associated with a decreased risk of lung cancer (OR = 0.40, 95% CI 0.19-0.85) compared to the most common haplotype. 15849729 Human
ercc2 cancer Polymorphisms in the human XPD (ERCC2) gene, DNA repair capacity and cancer susceptibility: An appraisal. 16054878 Human
ercc2 cancer Using the human XPD (ERCC2) gene as an example, we evaluate the suggestion that polymorphisms in DNA repair genes lead to decreased DNA repair capacity and to increased cancer susceptibility. 16054878 Human
the xpd gene xp-d The deficiency is assigned to the XP-D complementation group, and we have identified two causative mutations in the XPD gene: a gly-->arg change at amino acid 675 in the allele inherited from the patient's mother and a -1 frameshift at amino acid 669 7825573 Human
the xpd gene xp-d Efficient integration, mRNA synthesis, and protein expression of the XPD gene were obtained in all LXPDSN-transduced XP-D fibroblasts tested. 8590735 Human
the xpd gene xeroderma pigmentosum Mutations in the XPD gene leading to xeroderma pigmentosum symptoms. 9101292 Human
the xpd gene xeroderma pigmentosum (xp) The DNA repair-deficient genetic disorders xeroderma pigmentosum (XP) and trichothiodystrophy (TTD) can both result from mutations in the XPD gene, the sites of the mutations differing between the two disorders. 10667598 Human
the xpd gene basal-cell carcinoma (bcc) We have studied the role of two nucleotide substitutions in the XPD gene, one in exon 23 leading to an amino acid substitution (Lys751Gln) and one silent in exon 6 in relation to basal cell carcinoma (BCC). 9950243 Human
the xpd gene bcc Our results raise the possibility that the polymorphisms in the XPD gene may be contributing factors in the risk of BCC development. 9950243 Human
the xpd gene xeroderma pigmentosum Mutations in the XPD gene generate the cancer-prone syndrome, xeroderma pigmentosum, Cockayne's syndrome, and trichothiodystrophy. 10198066 Human
the xpd gene xeroderma pigmentosum (xp) Mutations in the XPD gene are associated with three complex clinical phenotypes, namely xeroderma pigmentosum (XP), XP in combination with Cockayne syndrome (XP-CS), and trichothiodystrophy (TTD). 11182546 Human
the xpd gene melanoma To investigate this hypothesis we have compared the frequency of polymorphisms in exons 6, 22 and 23 of the XPD gene in melanoma patients and a control group. 11238179 Human
the xpd gene melanoma Importantly, this association did not extend to markers immediately flanking the XPD gene, thus providing evidence that XPD gene polymorphisms might predispose to melanoma in the general population. 11238179 Human
the xpd gene melanoma There is a report that one of the polymorphic XPD alleles (exon 23 Lys), which is over-represented in the melanoma group, has reduced repair proficiency and we discuss the possibility that this is the causal change to the XPD gene that predisposes to mela 11238179 Human
the xpd gene xeroderma pigmentosum Mutations in the XPD gene generate the cancer-prone syndrome xeroderma pigmentosum, Cockayne's syndrome, and trichothiodystrophy. 11334141 Human
the xpd gene gliomas Recent molecular epidemiological studies have identified polymorphisms in the XPD gene that are associated with increased risk of brain gliomas and head, neck, lung, and skin cancers. 11606376 Human
the xpd gene skin cancers Recent molecular epidemiological studies have identified polymorphisms in the XPD gene that are associated with increased risk of brain gliomas and head, neck, lung, and skin cancers. 11606376 Human
the xpd gene xeroderma pigmentosum Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene. 11709541 Human
the xpd gene xeroderma pigmentosum group d Mutations in the XPD gene in xeroderma pigmentosum group D cell strains: confirmation of genotype-phenotype correlation. 12116233 Human
the xpd gene lung cancer To determine whether variations in DNA repair genes are related to host DNA damage, we investigated the association between polymorphism in the XPD gene (codon 199, 312, 751) and the XRCC1 gene (codon 194, 399) and the presence of benzo(a)pyrene diolepoxi 12115580 Human
the xpd gene xeroderma pigmentosum (xp) We have also measured TFIIH levels in cells in which different mutations in the XPD gene are associated with clinical symptoms not of TTD but of the highly cancer-prone disorder xeroderma pigmentosum (XP). 12393803 Human
the xpd gene xeroderma pigmentosum (xp) Mutations in the XPD gene result in xeroderma pigmentosum (XP) and trichothiodystrophy (TTD), the phenotypes of which are often intricate. 12820975 Human
the xpd gene breast cancer Overall, this study suggests that those individuals with this polymorphism in the XPD gene may face an increased risk of breast cancer from PAH-DNA adducts and cigarette smoking. 15598760 Human
the xpd gene basal-cell carcinoma We tested the design by genotyping a Danish basal cell carcinoma cohort of 80 individuals for an A/C SNP in exon 6 of the XPD gene. 15729710 Human
the xpd gene squamous-cell carcinoma We assessed the associations between two common nonsynonymous polymorphisms (Asp312Asn and Lys751Gln) with skin cancer risk in a nested case-control study within the Nurses' Health Study (219 melanoma, 286 squamous cell carcinoma, 300 basal cell carc 15941969 Human
the xpd gene basal-cell carcinoma We assessed the associations between two common nonsynonymous polymorphisms (Asp312Asn and Lys751Gln) with skin cancer risk in a nested case-control study within the Nurses' Health Study (219 melanoma, 286 squamous cell carcinoma, 300 basal cell carc 15941969 Human
the xpd gene skin cancer We assessed the associations between two common nonsynonymous polymorphisms (Asp312Asn and Lys751Gln) with skin cancer risk in a nested case-control study within the Nurses' Health Study (219 melanoma, 286 squamous cell carcinoma, 300 basal cell carc 15941969 Human
the xpd gene melanoma We assessed the associations between two common nonsynonymous polymorphisms (Asp312Asn and Lys751Gln) with skin cancer risk in a nested case-control study within the Nurses' Health Study (219 melanoma, 286 squamous cell carcinoma, 300 basal cell carc 15941969 Human
the xpd gene xeroderma pigmentosum We report two new phenotypically distinct cases of XP with additional features of CS (xeroderma pigmentosum and Cockayne syndrome crossover syndrome (XP/CS)) carrying an identical mutation (G47R) in the XPD gene within the N terminus of the protein. 15982307 Human
the xpd gene xeroderma pigmentosum (xp) Defects in the XPD gene can result in several clinical phenotypes, including xeroderma pigmentosum (XP), trichothiodystrophy, and, less frequently, the combined phenotype of XP and Cockayne syndrome (XP-D/CS). 16135823 Human
the xpd protein xp-d However, we also discovered that a subset of TTD cells, in which arg112 in the NH2-terminal region of the XPD protein is mutated to histidine, had an ICAM-1 response similar to that of XP-D cells. 10667598 Human
xeroderma pigmentosum d breast cancer Common Polymorphisms in ERCC2 (Xeroderma pigmentosum D) are not Associated with Breast Cancer Risk. 16030124 Human
xpd skin tumors Human cells from patients suffering with xeroderma pigmentosum (XP) characterized by extreme sensitivity to UV light and a high incidence of skin tumors fall into seven complementation groups, XPA to XPG, and are lacking a functional helicase, endonucleas 8687116 Human
xpd skin tumor In humans, mutation of the XPB or XPD gene impairs NER, resulting in hyper-sensitivity to sunlight and greatly increased skin tumor formation. 9427533 Human
xpd xeroderma pigmentosum (xp) Mutations in XPD helicase prevent its interaction and regulation by p44, another subunit of TFIIH, resulting in Xeroderma pigmentosum (XP) and trichothiodystrophy (TTD) phenotypes. 9885814 Human
xpd nsclc The frequencies of several amino acid substitutions in XRCC1 (Arg194Trp, Arg280His and Arg399Gln), XRCC3 (Thr241Met), XPD (Ile199Met, His201Tyr, Asp312Asn and Lys751Gln) and XPF (Pro379Ser) genes were studied in 96 non-small-cell lung cancer (NSCLC) cases 11285194 Human
xpd nsclc In light cigarette smokers (less than the median of 34.5 pack-years), the XPD codon 312 Asp/Asp genotype was more frequent among cases than in controls and was associated with an increased risk of NSCLC. 11285194 Human
xpd bcc BCC has been associated with UV-induced mutations of the PTC and p53 tumor suppressor genes, and to polymorphisms in the melanocortin-1 receptor and XPD genes. 12079222 Human
xpd xeroderma pigmentosum These are the causative genes for Xeroderma pigmentosum (XPB and XPD), Cockayne syndrome (CSB), diffuse collagen disease (Ku80), alpha-thalassmia (ATR-X), Bloom syndrome (BLM), Werner syndrome (WRN) and Rothmund-Thomson syndrome (RTS). 12638184 Human
xpd lung tumors Influence of common XPD and XRCC1 variant alleles on p53 mutations in lung tumors. 12552590 Human
xpd lung tumors We conclude that the XPD variant alleles may be associated with an increased frequency of smoking-related p53 mutations in lung tumors, presumably due to reduced DNA repair proficiency. 12552590 Human
xpd esophageal cancer [Association of genetic polymorphisms in the DNA repair gene XPD with risk of lung and esophageal cancer in a Chinese population in Beijing] OBJECTIVE: XPD polymorphisms at Asp312Asn and Lys751Gln sites have been shown to modulate DNA repair capacity. 12579497 Human
xpd esophageal cancer The authors therefore assessed the relationship between these XPD polymorphisms and susceptibility to lung and esophageal cancer in a Chinese population via a hospital-based, case-control study. 12579497 Human
xpd esophageal scc CONCLUSION: The above findings indicate that the Asp312Asn and Lys751Gln polymorphisms in the XPD locus are associated with the risk of lung SCC but not lung adenocarcinoma or esophageal SCC in this Chinese population. 12579497 Human
xpd lung adenocarcinoma CONCLUSION: The above findings indicate that the Asp312Asn and Lys751Gln polymorphisms in the XPD locus are associated with the risk of lung SCC but not lung adenocarcinoma or esophageal SCC in this Chinese population. 12579497 Human
xpd bcc The results show a significant association between BCC and the A-allele of a polymorphism in ERCCI exon4 (Odds ratio 12;95% Confidence Interval 1.17-124; p(chi2, two-side) = 0.019) and to a lesser extent with XPD exon6 (p = 0.06). 12645871 Human
xpd nsclc Lung tumors from 204 smokers with non-small cell lung cancer (NSCLC) were analyzed for mutations in exons 5-8 of the p53 gene and genotypes of XPD and XRCC1. p53 mutations were found in 20% (40/204) of the patients. 12844488 Human
xpd lung tumors Lung tumors from 204 smokers with non-small cell lung cancer (NSCLC) were analyzed for mutations in exons 5-8 of the p53 gene and genotypes of XPD and XRCC1. p53 mutations were found in 20% (40/204) of the patients. 12844488 Human
xpd advanced non-small-cell lung cancer Assessment of nucleotide excision repair XPD polymorphisms in the peripheral blood of gemcitabine/cisplatin-treated advanced non-small-cell lung cancer patients. 14624713 Human
xpd xeroderma pigmentosum The study of rare inherited disorders such as xeroderma pigmentosum and Cockayne syndrome has disclosed that XP genes, including XPD, play an essential role in DNA repair, both in the global genomic repair and in the transcription-coupled repair pathways. 14624713 Human
xpd advanced non-small-cell lung cancer In the present study, we have examined XPD polymorphisms at codons 751 and 312 in DNA isolated from peripheral blood in 39 patients with gemcitabine/cisplatin-treated locally advanced non-small-cell lung cancer Although no significant correlation was obse 14624713 Human
xpd nsclc The map of the nucleotide excision repair pathway can be used to design translational research studies to identify and validate predictive markers of response to cisplatin, and the Spanish Lung Cancer Group has recently accrued 250 gemcitabine/cisplatin-t 14624713 Human
xpd lung cancer The map of the nucleotide excision repair pathway can be used to design translational research studies to identify and validate predictive markers of response to cisplatin, and the Spanish Lung Cancer Group has recently accrued 250 gemcitabine/cisplatin-t 14624713 Human
xpd non-small-cell lung cancer Association between polymorphisms of ERCC1 and XPD and survival in non-small-cell lung cancer patients treated with cisplatin combination chemotherapy. 15140544 Human
xpd lung cancer Together with data from the present study on DNA repair genes, we did not observe significant associations between any single variant genotype for several DNA-repair and chemical-metabolizing genes (XPD [or ERCC2], XRCC1, XRCC3, GSTM1, GSTT1, MPO, and mEH 15199549 Human
xpd advanced non-small-cell lung cancer XPD and XRCC1 genetic polymorphisms are prognostic factors in advanced non-small-cell lung cancer patients treated with platinum chemotherapy. 15173214 Human
xpd nsclc METHODS: We used polymerase chain reaction-restriction fragment length polymorphism to evaluate genetic polymorphisms of the XPD (Asp312Asn) and XRCC1 (Arg399Gln) DNA repair genes in 103 patients with stage III (54%) and IV (46%) NSCLC treated with platin 15173214 Human
xpd nsclc CONCLUSION: Genetic polymorphisms in XPD and XRCC1 may be important prognostic factors in platinum-treated patients with advanced NSCLC. 15173214 Human
xpd nonmelanoma skin cancer XPD polymorphism and risk of subsequent cancer in individuals with nonmelanoma skin cancer. 15298945 Human
xpd cancer XPD polymorphism and risk of subsequent cancer in individuals with nonmelanoma skin cancer. 15298945 Human
xpd second primary cancer To test this hypothesis, a cohort study was conducted to examine the association between XPD Lys751Gln polymorphism and risk of a second primary cancer in individuals with NMSC. 15298945 Human
xpd second primary cancer Cox proportional regression with delayed entry was used to calculate the incidence rate ratio (IRR) and 95% confidence interval (95% CI) for risk of developing a second primary cancer according to XPD genotype. 15298945 Human
xpd second primary cancer CONCLUSION: These findings suggest that individuals with NMSC who have the variant XPD Gln allele are at increased risk of developing a second primary cancer. 15298945 Human
xpd breast cancer Reduced DNA repair of benzo[a]pyrene diol epoxide-induced adducts and common XPD polymorphisms in breast cancer patients. 15090466 Human
xpd breast cancer The XPD variant genotypes in general predicted the DRC better in the controls than in the cases, suggesting genetic variants of other DNA repair genes may be involved in these breast cancer patients. 15090466 Human
xpd esophageal squamous-cell carcinoma Polymorphisms in the DNA repair gene XPD and susceptibility to esophageal squamous cell carcinoma. 15381366 Human
xpd cancer Polymorphisms of the nucleotide excision repair gene XPD are candidates for influencing cancer susceptibility. 15381366 Human
xpd esophageal squamous-cell carcinoma (escc) To determine the effect of XPD genetic polymorphisms on the risk of esophageal squamous cell carcinoma (ESCC) and its interaction with carcinogen exposure, XPD polymorphisms at codon 312 (Asp-->Asn) and codon 751 (Lys-->Gln) were determined in 135 ESCC pa 15381366 Human
xpd non-small-cell lung cancer No association between the XPD 312, 751, or XRCC1 399 polymorphisms and K-ras gene mutation in smoking non-small-cell lung cancer. 15066937 Human
xpd tumor ERCC1, RRM1, and XPD are involved in the nucleotide excision repair pathways, and tumor up-regulation of these genes leads to chemotherapy failure. 15217961 Human
xpd non-small cell lung cancer In the present study, we have examined the potential correlation and predictive value of ERCC1, RRM1, and XPD mRNA expression in resected specimens from 67 stage IIB, IIIA, and IIIB non-small cell lung cancer patients treated with neoadjuvant gemcitabine/ 15217961 Human
xpd stage iv nsclc We assessed whether single nucleotide polymorphisms (SNPs) in ERCC1, XPD, RRM1 and MDR1, and ERCC1 mRNA expression, predicted survival in docetaxel-cisplatin-treated stage IV NSCLC patients. 15277258 Human
xpd nsclc PATIENTS AND METHODS: Using the TaqMan 5' nuclease assay, we examined ERCC1 118, XPD 751 and 312, RRM1 -37C/A, and MDR1 C3435T SNPs in peripheral blood lymphocytes (PBLs) obtained from 62 docetaxel-cisplatin-treated advanced NSCLC patients. 15277258 Human
xpd solid tumor Comparison of the IC50 values for irofulven, cisplatin, and ecteinascidin 743 with the expression levels of ERCC1, XPD, and XPG genes in different solid tumor cell lines shows no correlation between the expression levels of any of the three nucleotide exc 15328203 Human
xpd lung cancer DNA repair gene XPD polymorphism and lung cancer risk: a meta-analysis. 15364127 Human
xpd lung cancer The xeroderma pigmentosum complementary group D (XPD) is one of the NER genes, and two of the XPD polymorphisms 751A --> C and 312G --> A have been extensively studied in the association with lung cancer, although published studies have been inconclusive. 15364127 Human
xpd lung cancer To clarify the impact of XPD polymorphisms on lung cancer risk, we performed a meta-analysis of the published data from nine (10 comparisons) individual case-control studies of 3725 lung cancer cases and 4152 controls. 15364127 Human
xpd lung cancer The results showed that individuals with the XPD 751CC genotype had a 21% (odds ratio (OR)= 1.21, 95% confidence interval (CI) = 1.02-1.43) increased risk of lung cancer compared with individuals with the 751AA genotype without any between-study heterogen 15364127 Human
xpd lung cancer These results support the hypothesis that both the XPD 751 C and 312 A are risk alleles and individuals with the XPD 751 CC and 312 AA genotypes are at higher risk of developing lung cancer. 15364127 Human
xpd xeroderma pigmentosum Mutations in the XPD subunit of the transcription/repair factor TFIIH cause the Xeroderma pigmentosum disorder. 15494306 Human
xpd xp-d We show that in some XP-D deficient cells, transactivation by the vitamin D receptor (VDR) is selectively inhibited for a subset of responsive genes, such as CYP24, and that the XPD/R683W mutation prevents VDR recruitment on its promoter. 15494306 Human
xpd acute myeloid leukemia Genetic variation in XPD predicts treatment outcome and risk of acute myeloid leukemia following chemotherapy. 15339847 Human
xpd aml Furthermore, homozygosity for the XPD codon 751 glutamine variant was associated with a significantly increased risk of developing AML after chemotherapy (odds ratio, 2.22 for Gln/Gln vs Lys/Lys; 95% CI, 1.04-4.74). 15339847 Human
xpd breast cancer Polymorphism in the DNA Repair Gene XPD, Polycyclic Aromatic Hydrocarbon-DNA Adducts, Cigarette Smoking, and Breast Cancer Risk. 15598760 Human
xpd breast cancer Using a population-based breast cancer case-control study that was specifically conducted to examine markers of environmental exposures, such as polycyclic aromatic hydrocarbons (PAH), on Long Island, NY, we examined whether XPD genotype modified the asso 15598760 Human
xpd breast cancer Specifically, we examined the XPD polymorphism at exon 23, position 751 in 1,053 breast cancer cases and 1,102 population-based controls. 15598760 Human
xpd skin cancer The nucleotide excision repair enzyme encoded by the excision repair cross-complementing group 2 gene ERCC2 (formerly XPD) known to cause skin cancer by germ line mutations has multiple regulatory cellular functions, including nucleotide excision repair, 15598761 Human
xpd lung cancer Several polymorphisms in DNA repair genes have been reported to be associated with lung cancer risk including XPA (-4G/A), XPD (Lys751Gln and Asp312Asn), XRCC1 (Arg399Gln), APE1 (Asp148Glu) and XRCC3 (Thr241Met). 15333465 Human
xpd lung cancer Individuals homozygous for the variants XPA (-4A) (OR = 1.53, CI = 0.94-2.5), XPD 751Gln (OR = 1.39, CI = 0.90-2.14) or XRCC3 241Met (OR = 1.29, CI = 0.85-1.98) showed a slightly higher risk for lung cancer overall. 15333465 Human
xpd lung cancer Combinations of polymorphisms in genes involved in the same repair pathway (XPA + XPD or XRCC1 + APE1) affected lung cancer risk only in patients with SCC. 15333465 Human
xpd laryngeal cancer The distribution of polymorphic variants of XPD, XRCC1 and XRCC3 DNA repair genes in the group of laryngeal cancer subjects (n = 293), subjects with second primary tumours (n = 84) and in the matched controls (n = 322) was estimated by PCR-based genotypin 15608415 Human
xpd second primary tumours The distribution of polymorphic variants of XPD, XRCC1 and XRCC3 DNA repair genes in the group of laryngeal cancer subjects (n = 293), subjects with second primary tumours (n = 84) and in the matched controls (n = 322) was estimated by PCR-based genotypin 15608415 Human
xpd laryngeal cancer There were found only 2 XPD alleles significantly overrepresented in laryngeal cancer that could be interpreted as an increase in genetic risk. 15608415 Human
xpd second primary tumours There were no significant differences in distribution of 'risk' and 'protective' genotypes between single primary and second primary tumours. 15608415 Human
xpd cancer The distribution of polymorphic variants of XPD, XRCC1 and XRCC3 DNA repair genes in the group of laryngeal cancer subjects (n = 293), subjects with second primary tumours (n = 84) and in the matched controls (n = 322) was estimated by PCR-based genotypin 15608415 Human
xpd laryngeal cancer Five polymorphisms were studied in 3 DNA repair genes. 15608415 Human
xpd second primary tumours Five polymorphisms were studied in 3 DNA repair genes. 15608415 Human
xpd laryngeal cancer There were no significant differences in distribution of 'risk' and 'protective' genotypes between single primary and second primary tumours. 15608415 Human
xpd lung cancer ERCC2 /XPD Gene Polymorphisms and Lung Cancer: A HuGE Review. 15615908 Human
xpd lung cancer No clear association between XPD Asp312Asn or XPD Lys751Gln gene polymorphisms and lung cancer was found. 15615908 Human
xpd colorectal cancer Polymorphisms of the XRCC1, XRCC3, & XPD genes, and colorectal cancer risk: a case-control study in Taiwan. 15679883 Human
xpd colorectal cancer This study was designed to examine the polymorphisms associated with three DNA repair genes, namely: XRCC1 Arg399Gln, XRCC3 Thr241Met and XPD Lys751Gln, and investigate their role as susceptibility markers for colorectal cancer. 15679883 Human
xpd colorectal cancer METHODS: We conducted a case-control study including 727 cases of cancer and 736 hospital-based age- and sex-matched healthy controls to examine the role of genetic polymorphisms of three DNA-repair genes (XRCC1, XRCC3 and XPD) in the context of colorecta 15679883 Human
xpd cancer METHODS: We conducted a case-control study including 727 cases of cancer and 736 hospital-based age- and sex-matched healthy controls to examine the role of genetic polymorphisms of three DNA-repair genes (XRCC1, XRCC3 and XPD) in the context of colorecta 15679883 Human
xpd colorectal cancer RESULTS: The risk for colorectal cancer did not appear to differ significantly amongst individuals featuring the XRCC1 399Arg/Arg genotype (OR = 1.18; 95% CI, 0.96-1.45), the XRCC3 241Thr/Thr genotype (OR = 1.25; 95% CI, 0.88-1.79) or the XPD 751Gln allel 15679883 Human
xpd human lung cancer Polymorphisms in XPD and TP53 and mutation in human lung cancer. 15564288 Human
xpd lung tumors Functional polymorphisms in XPD (Asp312Asn, rs1799793 and Lys751Gln, rs1052559), a protein required for nucleotide excision repair and with roles in p53-mediated apoptosis, were modestly associated with G:C-->T:A mutations in TP53 in lung tumors [Asp/Asn3 15564288 Human
xpd basal-cell carcinoma Polymorphism in the nuclear excision repair gene ERCC2/XPD: association between an exon 6-exon 10 haplotype and susceptibility to cutaneous basal cell carcinoma. 15776433 Human
xpd bcc We investigated the association between BCC risk and SNPs in exon 6 (c.466C > A, dbSNP238406:g.C > A; designated C/A156), exon 10 (c.932G > A, dbSNP1799793:g.G > A; designated G/A312), and exon 23 (c.2251A > C, dbSNP13181:g.A > C; designated A/C751) of th 15776433 Human
xpd bcc We interpret these data as showing that XPD SNP mediate susceptibility to BCC. 15776433 Human
xpd cancers Association of polymorphisms in the cyclin D1 and XPD genes and susceptibility to cancers of the upper aero-digestive tract. 15754315 Human
xpd cancer In this study, XPD G23591A (Asp312Asn) and A35931C (Lys751Gln) polymorphisms and the CCND1 G870A splice variant frequencies were determined in 273 upper aero-digestive tract cancer cases and 269 controls. 15754315 Human
xpd cancer This is the first study to suggest an associative interaction between XPD and CCND1 genetic polymorphisms, tobacco exposure, and cancer risk. 15754315 Human
xpd bladder cancer Polymorphisms in XPD Exons 10 and 23 and Bladder Cancer Risk. 15824159 Human
xpd cancer INTRODUCTION: The nucleotide excision repair gene, xeroderma pigmentosum complementation group D (XPD), has been hypothesized to have a role in cancer risk, but results from prior molecular epidemiologic studies and genotype-phenotype analyses are conflic 15824159 Human
xpd bladder cancer MATERIALS AND METHODS: We examined the frequency of the XPD Asp312Asn polymorphism in exon 10 and the XPD Lys751Gln polymorphism in exon 23 in 505 incident bladder cancer cases and 486 healthy controls. 15824159 Human
xpd bladder cancer For example, when the exon 23 variant allele genotypes were combined (Lys/Gln + Gln/Gln), there was an increased bladder cancer risk in women [odds ratio (OR), 1.69; 95% confidence interval (95% CI), 1.12-2.58] but not in men (OR, 0.99; 95% CI, 0.79-1.24; 15824159 Human
xpd bladder cancer CONCLUSIONS: Although we did not observe main effects associated with the XPD genotypes, these results do suggest the variant allele genotypes were associated with increased bladder cancer risk in women and smokers with statistically significant interacti 15824159 Human
xpd bladder cancer A gender-specific role was evident that showed an increased risk for women, but not for men, associated with the variant genotypes for both exons. 15824159 Human
xpd lung cancer Combinations of polymorphisms in XPD, XPC and XPA in relation to risk of lung cancer. 15837542 Human
xpd lung cancer In a nested case-cohort study, we have investigated the occurrence of lung cancer in relation to commonly occurring polymorphisms in XPA, XPC and XPD. 15837542 Human
xpd lung cancer 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 Human
xpd lung cancer The DNA repair gene ERCC2/XPD polymorphism Arg 156Arg (A22541C) and risk of lung cancer in a Chinese population. 15896456 Human
xpd lung cancer To determine the effect of the DNA repair gene XPD Arg156Arg polymorphism on the risk of lung cancer in a North-Eastern Chinese population, a hospital-based case-control study was designed consisting of 149 newly diagnosis subjects with lung cancer and 13 15896456 Human
xpd lung cancer In the whole study group, XPD Arg156Arg was not associated with risk of lung cancer. 15896456 Human
xpd adenocarcinoma of lung In stratified analyses, the variant A-allele of XPD Arg156Arg was associated with increased risk of adenocarcinoma of lung (AA/AC versus CC; adjusted OR=1.65; 95% CI=1.09-2.50) (P=0.02). 15896456 Human
xpd lung cancer This is the first study to report a significant association of XPD Arg156Arg with risk of lung cancer. 15896456 Human
xpd tumor of head and neck The polymorphisms of genes involved in carcinogen metabolic activation (CYP1A1, CYP2E1), detoxication (GSTM1, GSTT1, GSTM3, NAT2,) and DNA repair (XPD /A35931C-exon 23 and C22541A-exon 6/, XRCC1 /G28152A-exon 10 and C26304T-exon 6/, XRCC3/C18067T/) were s 15914277 Human
xpd basal-cell carcinoma Effect of polymorphisms in XPD, RAI, ASE-1 and ERCC1 on the risk of basal cell carcinoma among Caucasians after age 50. 15936590 Human
xpd basal-cell carcinoma We found that the polymorphism XPD Arg156Arg was associated with risk of basal cell carcinoma (rate ratio (RR)=1.59, 95% confidence interval (CI)=1.02-2.50 for homozygous carriers of the A-allele), and that the association was strongest in the youngest ag 15936590 Human
xpd basal-cell carcinoma The polymorphisms XPD Asp312Asn and XPD Lys751Gln were not associated with risk of basal cell carcinoma. 15936590 Human
xpd basal-cell carcinoma While it cannot be ruled out that the present findings are due to chance, the present results are consistent with previous findings that XPD Arg156Arg is a weak risk factor for basal cell carcinoma. 15936590 Human
xpd skin cancer Genetic Variation in XPD, Sun Exposure, and Risk of Skin Cancer. 15941969 Human
xpd skin cancer Our data suggest these two XPD nonsynonymous polymorphisms may be associated with skin cancer risk, especially for melanoma. 15941969 Human
xpd melanoma Our data suggest these two XPD nonsynonymous polymorphisms may be associated with skin cancer risk, especially for melanoma. 15941969 Human
xpd cancer Therefore, we also analyzed whether environmental and genetic factors associated with DNA damage, i.e. smoking and polymorphisms in the genes involved in the metabolism of genotoxic carcinogens (EPHX1, GSTA1, GSTM1, GSTP1, GSTT1, NAT1, NAT2 and NQO1) or D 15746160 Human
xpd testicular cancer We found that neither polymorphisms in several DNA repair genes nor alleles of several polymorphisms in the chromosomal of region 19q13.2-3, encompassing the genes ASE, ERCC1, RAI and XPD, were associated with risk of testicular cancer in Danish patients. 15885892 Human
xpd colorectal cancer This hospital-based case-control study examined whether polymorphic DNA repair genes: XRCC1 Arg399Gln, XRCC3 Thr241Met and XPD Lys751Gln, play a role in the susceptibility to colorectal cancer. 15914278 Human
xpd breast cancer Association between Polymorphisms in the DNA Repair Genes, XRCC1, APE1, and XPD and Acute Side Effects of Radiotherapy in Breast Cancer Patients. 16000577 Human
xpd breast cancer We evaluated the association of six polymorphisms in the DNA repair genes: XRCC1 (Arg(194)Trp, Arg(280)His, and Arg(399)Gln), APE1 (Asp(148)Glu), and XPD (Lys(751)Gln and Asp(312)Asn), with the risk of acute skin reactions following radiotherapy.Design: W 16000577 Human
xpd head-and-neck cancer Selected Genetic Polymorphisms in MGMT, XRCC1, XPD, and XRCC3 and Risk of Head and Neck Cancer: A Pooled Analysis. 16030112 Human
xpd head-and-neck cancer Pooling data and DNA specimens from three case-control studies in western Washington State, North Carolina, and Puerto Rico, totaling 555 cases (430 whites) and 792 controls (695 whites), we studied the risk of head and neck cancer in relation to common n 16030112 Human
xpd lung cancer We studied single nucleotide polymorphisms (SNPs) and their corresponding haplotypes in 6 genes (ERCC1, ERCC2/XPD, ERCC4/XPF, ERCC5/XPG, RAD23B and XPC) involved in NER in a population-based case-control study of lung cancer in Xuan Wei. 15849729 Human
xpd non-small cell lung cancer This study was to examine the association between genetic polymorphisms in XPC and XPD, two important components in nucleotide excision repair system, and clinical response to platinum-based chemotherapy in advanced non-small cell lung cancer. 16061005 Human
xpd non-small cell lung cancer [Polymorphisms in nucleotide excision repair genes XPC and XPD and clinical responses to platinum-based chemotherapy in advanced non-small cell lung cancer] OBJECTIVE: Nucleotide excision repair has been shown to have great impact on the sensitivity of tu 16061005 Human
xpd cancer DNA single-strand breaks (SSBs) were quantified by single-cell gel electrophoresis and micronucleated and apoptotic cells were quantified by microscopic assays in peripheral blood lymphocytes after irradiation on ice with 2 Gy of 60Co gamma radiation, and 16038584 Human
xpd cancer Polymorphisms in the human XPD (ERCC2) gene, DNA repair capacity and cancer susceptibility: An appraisal. 16054878 Human
xpd cancer Using the human XPD (ERCC2) gene as an example, we evaluate the suggestion that polymorphisms in DNA repair genes lead to decreased DNA repair capacity and to increased cancer susceptibility. 16054878 Human
xpd cancer Current evidence suggests no causal relationship between XPD polymorphisms, reduced DNA repair and increased cancer risk. 16054878 Human

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