Gene Symbol: Ercc2
Description: ERCC excision repair 2, TFIIH core complex helicase subunit
Alias: TFIIH basal transcription factor complex helicase XPD subunit, excision repair cross-complementation group 2, excision repair cross-complementing rodent repair deficiency, complementation group 2, rCG54110-like
Species: rat
Products:     Ercc2

Top Publications

  1. Andressoo J, Mitchell J, de Wit J, Hoogstraten D, Volker M, Toussaint W, et al. An Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeria. Cancer Cell. 2006;10:121-32 pubmed
    ..Like CS fibroblasts, XPCS and TTD fibroblasts from human and mouse showed evidence of defective repair of oxidative DNA lesions that may underlie these segmental progeroid symptoms. ..
  2. Ganster C, Neesen J, Zehetmayer S, Jager U, Esterbauer H, Mannhalter C, et al. DNA repair polymorphisms associated with cytogenetic subgroups in B-cell chronic lymphocytic leukemia. Genes Chromosomes Cancer. 2009;48:760-7 pubmed publisher
    ..However, differences were observed in the distribution of rs13181 in ERCC2 between all CLL patients and controls...
  3. de Boer J, de Wit J, van Steeg H, Berg R, Morreau H, Visser P, et al. A mouse model for the basal transcription/DNA repair syndrome trichothiodystrophy. Mol Cell. 1998;1:981-90 pubmed
    ..The cutaneous symptoms are associated with reduced transcription of a skin-specific gene strongly supporting the concept of TTD as a human disease due to inborn defects in basal transcription and DNA repair. ..
  4. Graham J, Anyane Yeboa K, Raams A, Appeldoorn E, Kleijer W, Garritsen V, et al. Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy. Am J Hum Genet. 2001;69:291-300 pubmed
    ..This result strongly underlines the need for screening of patients with COFS syndrome, for either UV sensitivity or DNA-repair abnormalities. ..
  5. Wang X, Vermeulen W, Coursen J, Gibson M, Lupold S, Forrester K, et al. The XPB and XPD DNA helicases are components of the p53-mediated apoptosis pathway. Genes Dev. 1996;10:1219-32 pubmed
    ..Direct microinjection of the p53 carboxy-terminal-derived peptide (amino acid residues 319-393) resulted in apoptosis of primary normal human fibroblasts. These results disclose a novel pathway of p53-induced apoptosis. ..
  6. Batar B, Guven M, Baris S, Celkan T, Yildiz I. DNA repair gene XPD and XRCC1 polymorphisms and the risk of childhood acute lymphoblastic leukemia. Leuk Res. 2009;33:759-63 pubmed publisher
  7. Allan J, Smith A, Wheatley K, Hills R, Travis L, Hill D, et al. Genetic variation in XPD predicts treatment outcome and risk of acute myeloid leukemia following chemotherapy. Blood. 2004;104:3872-7 pubmed
    ..22 for Gln/Gln vs Lys/Lys; 95% CI, 1.04-4.74). These data suggest that the XPD codon 751 glutamine variant protects against myeloid cell death after chemotherapy. ..
  8. Gorgun E, Guven M, Unal M, Batar B, Guven G, Yenerel M, et al. Polymorphisms of the DNA repair genes XPD and XRCC1 and the risk of age-related macular degeneration. Invest Ophthalmol Vis Sci. 2010;51:4732-7 pubmed publisher
    ..Polymorphism in XPD codon 751 may be associated with the development of AMD. ..
  9. Sorour A, Ayad M, Kassem H. The genotype distribution of the XRCC1, XRCC3, and XPD DNA repair genes and their role for the development of acute myeloblastic leukemia. Genet Test Mol Biomarkers. 2013;17:195-201 pubmed publisher
    ..Combined analysis of the studied DNA repair gene polymorphisms did not show an interaction with the detoxification NQO1 Pro187Ser polymorphism. ..

More Information


  1. Kuptsova N, Kopecky K, Godwin J, Anderson J, Hoque A, Willman C, et al. Polymorphisms in DNA repair genes and therapeutic outcomes of AML patients from SWOG clinical trials. Blood. 2007;109:3936-44 pubmed
    ..With validation of results in larger samples, these findings could lead to optimizing individual chemotherapy options. ..
  2. de Boer J, Andressoo J, de Wit J, Huijmans J, Beems R, van Steeg H, et al. Premature aging in mice deficient in DNA repair and transcription. Science. 2002;296:1276-9 pubmed
    ..We hypothesize that aging in TTD mice is caused by unrepaired DNA damage that compromises transcription, leading to functional inactivation of critical genes and enhanced apoptosis...
  3. de Boer J, Donker I, de Wit J, Hoeijmakers J, Weeda G. Disruption of the mouse xeroderma pigmentosum group D DNA repair/basal transcription gene results in preimplantation lethality. Cancer Res. 1998;58:89-94 pubmed
  4. Khrunin A, Moisseev A, Gorbunova V, Limborska S. Genetic polymorphisms and the efficacy and toxicity of cisplatin-based chemotherapy in ovarian cancer patients. Pharmacogenomics J. 2010;10:54-61 pubmed publisher
    ..A higher risk of nephrotoxicity was noted for patients with the heterozygous ERCC1 19007 T/C and 8092 C/A genotypes. No correlations were found between genotypes and complete tumor responses. ..
  5. Chokkalingam A, Bartley K, Wiemels J, Metayer C, Barcellos L, Hansen H, et al. Haplotypes of DNA repair and cell cycle control genes, X-ray exposure, and risk of childhood acute lymphoblastic leukemia. Cancer Causes Control. 2011;22:1721-30 pubmed publisher
    ..We found that haplotypes in APEX1, BRCA2, ERCC2, and RAD51 were significantly associated with total ALL, while haplotypes in NBN and XRCC4, and CDKN2A were ..
  6. Poletto V, Villani L, Catarsi P, Campanelli R, Massa M, Vannucchi A, et al. No association between the XPD Lys751Gln (rs13181) polymorphism and disease phenotype or leukemic transformation in primary myelofibrosis. Haematologica. 2013;98:e83-4 pubmed publisher
  7. Gharib A, Dabour S, Etewa R, Fouad R. Polymorphisms of DNA repair genes OGG1 and XPD and the risk of age-related cataract in Egyptians. Mol Vis. 2014;20:661-9 pubmed
  8. Chiappe Gutierrez M, Kitzmueller E, Labudova O, Fuerst G, Hoeger H, Hardmeier R, et al. mRNA levels of the hypoxia inducible factor (HIF-1) and DNA repair genes in perinatal asphyxia of the rat. Life Sci. 1998;63:1157-67 pubmed
    ..were reported to occur in PA, we determined mRNA levels of two genes representing DNA nucleotide excision repair, ERCC2 and ERCC3, and a DNA repair gene involved in the repair of oxidation mediated DNA damage, XRCC1...
  9. Chew H, Doroshow J, Frankel P, Margolin K, Somlo G, Lenz H, et al. Phase II studies of gemcitabine and cisplatin in heavily and minimally pretreated metastatic breast cancer. J Clin Oncol. 2009;27:2163-9 pubmed publisher
    ..Combination cisplatin and gemcitabine is active in metastatic breast cancer regardless of prior therapy. Genetic polymorphisms may tailor which patients benefit from this regimen. ..
  10. Sobti R, Berhane N, Mahdi S, Kler R, Hosseini S, Kuttiat V, et al. Impact of ERCC2 gene polymorphism on HIV-1 disease progression to AIDS among North Indian HIV patients. Mol Biol Rep. 2011;38:2945-52 pubmed publisher
    ..The aim of the present study was to evaluate the impact of ERCC2 Lyc ( 751 ) Gln (excision repair cross complementing rodent repair deficiency, complementation group 2) ..
  11. Reardon J, Ge H, Gibbs E, Sancar A, Hurwitz J, Pan Z. Isolation and characterization of two human transcription factor IIH (TFIIH)-related complexes: ERCC2/CAK and TFIIH. Proc Natl Acad Sci U S A. 1996;93:6482-7 pubmed
    ..Here we report the isolation of two TFIIH-related complexes: TFIIH* and ERCC2/CAK...
  12. Deenen M, Meulendijks D, Boot H, Legdeur M, Beijnen J, Schellens J, et al. Phase 1a/1b and pharmacogenetic study of docetaxel, oxaliplatin and capecitabine in patients with advanced cancer of the stomach or the gastroesophageal junction. Cancer Chemother Pharmacol. 2015;76:1285-95 pubmed publisher
    ..ERCC1 354C>T, TYMS 1053C>T and rs2612091 in ENOSF1 were associated with severe toxicity; ERCC1 354C>T and ERCC2 2251A>C were associated with poor progression-free survival...
  13. Bau D, Wu H, Chiu C, Lin C, Hsu C, Wang C, et al. Association of XPD polymorphisms with prostate cancer in Taiwanese patients. Anticancer Res. 2007;27:2893-6 pubmed
    ..Our findings suggest that the heterozygous and homozygous A allele of the XPD codon 312 may be associated with the development of prostate cancer and may be a useful marker for primary prevention and anticancer intervention. ..
  14. Altinkilic E, Isbir S, Gormus U, Yilmaz S, Dalan A, Duman S, et al. RRM1, RRM2 and ERCC2 Gene Polymorphisms in Coronary Artery Disease. In Vivo. 2016;30:611-5 pubmed
    ..XPD, encoded by ERCC2 gene, is an ATP-depended helicase enzyme involved in the NER pathway...
  15. Drapkin R, Le Roy G, Cho H, Akoulitchev S, Reinberg D. Human cyclin-dependent kinase-activating kinase exists in three distinct complexes. Proc Natl Acad Sci U S A. 1996;93:6488-93 pubmed
    ..and characterization of three distinct CAK-containing complexes from HeLa nuclear extracts: CAK, a novel CAK-ERCC2 complex, and TFIIH...
  16. Majumder M, Sikdar N, Ghosh S, Roy B. Polymorphisms at XPD and XRCC1 DNA repair loci and increased risk of oral leukoplakia and cancer among NAT2 slow acetylators. Int J Cancer. 2007;120:2148-56 pubmed
    ..4, respectively) among slow acetylators. Although none of the 3 loci could modulate the risk of the diseases independently but 2 loci in combination, working in 2 different biochemical pathways, could do so in these patient populations...
  17. Govindaraj V, Keralapura Basavaraju R, Rao A. Changes in the expression of DNA double strand break repair genes in primordial follicles from immature and aged rats. Reprod Biomed Online. 2015;30:303-10 pubmed publisher
    ..Results revealed a significant decline in mRNA levels of BRAC1 (P < 0.01), RAD51 (P < 0.05), ERCC2 (P < 0.05), and H2AX (P < 0.01) of DNA repair genes and phospho-protein levels of BRAC1 (P < 0...
  18. Kuptsova Clarkson N, Ambrosone C, Weiss J, Baer M, Sucheston L, Zirpoli G, et al. XPD DNA nucleotide excision repair gene polymorphisms associated with DNA repair deficiency predict better treatment outcomes in secondary acute myeloid leukemia. Int J Mol Epidemiol Genet. 2010;1:278-94 pubmed
    ..Thus, XPD codon 312 and 751 variant genotypes and haplotypes containing at least one variant allele may predict better treatment responses. If validated, these findings could support stratification of chemotherapy in secondary AML. ..
  19. Aktuglu M, Ayer M, Bireller E, Rencuzogullari C, Acik H, Karaali Z, et al. Investigation of DNA repair gene variants on myelodysplastic syndromes in a Turkish population. Med Oncol. 2014;31:174 pubmed publisher
    ..001). In conclusion, XRCC3, XPD and hOGG1 genotypes are associated with an increased MDS risk, suggesting their possible involvement in the pathogenesis and biology of this disease. ..
  20. Andressoo J, Jans J, de Wit J, Coin F, Hoogstraten D, van de Ven M, et al. Rescue of progeria in trichothiodystrophy by homozygous lethal Xpd alleles. PLoS Biol. 2006;4:e322 pubmed
    ..Our data suggest a re-evaluation of the contribution of "null" alleles to XPD disorders and highlight the potential of combinations of recessive alleles to affect both normal and pathological phenotypic plasticity in mammals. ..
  21. Bergmann E, Egly J. Trichothiodystrophy, a transcription syndrome. Trends Genet. 2001;17:279-86 pubmed
    ..In a third group of photosensitive patients, TTD-A, no mutation has been identified, although TFIIH amount is reduced. ..
  22. Sandrock B, Egly J. A yeast four-hybrid system identifies Cdk-activating kinase as a regulator of the XPD helicase, a subunit of transcription factor IIH. J Biol Chem. 2001;276:35328-33 pubmed
    ..XPD and/or the role of CAK within TFIIH and, consequently, explaining the variety of the XP phenotypes. ..
  23. Zhou C, Xie L, Lin Y, Yang K, Mao Q, Cheng Y. Susceptibility of XPD and hOGG1 genetic variants to prostate cancer. Biomed Rep. 2013;1:679-683 pubmed
    ..rodent repair deficiency, complementation group 2/Xeroderma pigmentosum complementation group D (ERCC2/XPD), contribute to carcinogenesis...
  24. Strom S, Estey E, Outschoorn U, Garcia Manero G. Acute myeloid leukemia outcome: role of nucleotide excision repair polymorphisms in intermediate risk patients. Leuk Lymphoma. 2010;51:598-605 pubmed publisher
    ..No associations were observed for disease-free survival. This combined genotype may modulate treatment effect, decreasing overall survival. These findings could in the future help select treatments for patients with normal cytogenetics. ..
  25. van de Ven M, Andressoo J, van der Horst G, Hoeijmakers J, Mitchell J. Effects of compound heterozygosity at the Xpd locus on cancer and ageing in mouse models. DNA Repair (Amst). 2012;11:874-83 pubmed publisher
    ..These data support to a model of genotype-phenotype relationship at the XPD locus in which interactions between different recessive diseases alleles are a potent source of disease heterogeneity in compound heterozygous patients. ..
  26. Joshi D, Korgaonkar S, Shanmukhaiah C, Vundinti B. Association of XPD (Lys751Gln) and XRCC1 (Arg280His) gene polymorphisms in myelodysplastic syndrome. Ann Hematol. 2016;95:79-85 pubmed
    ..Our study suggests that XRCC1 (Arg280His) and XPD polymorphisms are associated with risk of MDS and XRCC1 polymorphism strongly associated with advanced MDS subgroup. Hence, these polymorphisms can be used as a prognostic marker in MDS. ..
  27. Yin J, Vogel U, Ma Y, Qi R, Sun Z, Wang H. A haplotype encompassing the variant allele of DNA repair gene polymorphism ERCC2/XPD Lys751Gln but not the variant allele of Asp312Asn is associated with risk of lung cancer in a northeastern Chinese population. Cancer Genet Cytogenet. 2007;175:47-51 pubmed
    The effect of the polymorphism of the DNA repair gene ERCC2/XPD Asp312Asn on the risk of lung cancer was investigated in a northeastern Chinese population...
  28. Douzi K, Ouerhani S, Menif S, Safra I, Abbes S. Polymorphisms in XPC, XPD and XPG DNA repair genes and leukemia risk in a Tunisian population. Leuk Lymphoma. 2015;56:1856-62 pubmed publisher
    ..Further studies with larger samples and risk factor information are needed. ..
  29. Marini F, Nardo T, Giannattasio M, Minuzzo M, Stefanini M, Plevani P, et al. DNA nucleotide excision repair-dependent signaling to checkpoint activation. Proc Natl Acad Sci U S A. 2006;103:17325-30 pubmed
    ..Inhibition of RNA polymerase II transcription significantly reduces the phosphorylation of key checkpoint factors in XP/CS fibroblasts on exposure to UV damage...
  30. Caggana M, Kilgallen J, Conroy J, Wiencke J, Kelsey K, Miike R, et al. Associations between ERCC2 polymorphisms and gliomas. Cancer Epidemiol Biomarkers Prev. 2001;10:355-60 pubmed
    Xeroderma pigmentosum complementation group D/excision repair cross-complementing in rodents 2 (ERCC2) encodes a protein that is part of the nucleotide excision repair pathway and the transcription factor IIH transcription complex...
  31. Ito S, Tan L, Andoh D, Narita T, Seki M, Hirano Y, et al. MMXD, a TFIIH-independent XPD-MMS19 protein complex involved in chromosome segregation. Mol Cell. 2010;39:632-40 pubmed publisher
  32. Kamileri I, Karakasilioti I, Garinis G. Nucleotide excision repair: new tricks with old bricks. Trends Genet. 2012;28:566-73 pubmed publisher
    ..Together, these findings add new pieces to the puzzle for understanding NER and the relevance of NER defects in development and disease. ..
  33. Schrama D, Scherer D, Schneider M, Zapatka M, Bröcker E, Schadendorf D, et al. ERCC5 p.Asp1104His and ERCC2 p.Lys751Gln polymorphisms are independent prognostic factors for the clinical course of melanoma. J Invest Dermatol. 2011;131:1280-90 pubmed publisher
    ..5; P<0.001), but also revealed the significant impact of ERCC2 (XPD) 751 Gln/Gln on prognosis, with a 2.2-fold increased HR compared with ERCC2 751 Lys/Lys (P=0.009)...
  34. Decordier I, De Bont K, De Bock K, Mateuca R, Roelants M, Ciardelli R, et al. Genetic susceptibility of newborn daughters to oxidative stress. Toxicol Lett. 2007;172:68-84 pubmed
    ..However, these conclusions might not be extrapolable to other types of DNA damage and need confirmation in a study on a larger population. ..
  35. Justenhoven C, Hamann U, Pesch B, Harth V, Rabstein S, Baisch C, et al. ERCC2 genotypes and a corresponding haplotype are linked with breast cancer risk in a German population. Cancer Epidemiol Biomarkers Prev. 2004;13:2059-64 pubmed
    ..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, ..
  36. Jiao L, Hassan M, Bondy M, Abbruzzese J, Evans D, Li D. The XPD Asp312Asn and Lys751Gln polymorphisms, corresponding haplotype, and pancreatic cancer risk. Cancer Lett. 2007;245:61-8 pubmed
    ..24-0.88) (P for interaction=0.03). The (312)Asp-(751)Gln was identified as the putative at risk haplotype. Our study shows that the XPD gene polymorphism could be a genetic risk modifier for smoking-related pancreatic cancer. ..
  37. Weber C, Salazar E, Stewart S, Thompson L. Molecular cloning and biological characterization of a human gene, ERCC2, that corrects the nucleotide excision repair defect in CHO UV5 cells. Mol Cell Biol. 1988;8:1137-46 pubmed the incision step of nucleotide excision repair, was used to identify and clone a complementing human gene, ERCC2, and to study the repair process...
  38. Egly J, Coin F. A history of TFIIH: two decades of molecular biology on a pivotal transcription/repair factor. DNA Repair (Amst). 2011;10:714-21 pubmed publisher
    ..This review intends to give a non-exhaustive survey of the most prominent discoveries on the molecular functioning of TFIIH. ..
  39. Hwang J, Moncollin V, Vermeulen W, Seroz T, van Vuuren H, Hoeijmakers J, et al. A 3' --> 5' XPB helicase defect in repair/transcription factor TFIIH of xeroderma pigmentosum group B affects both DNA repair and transcription. J Biol Chem. 1996;271:15898-904 pubmed
  40. Iyer N, Reagan M, Wu K, Canagarajah B, Friedberg E. Interactions involving the human RNA polymerase II transcription/nucleotide excision repair complex TFIIH, the nucleotide excision repair protein XPG, and Cockayne syndrome group B (CSB) protein. Biochemistry. 1996;35:2157-67 pubmed
    ..Our analyses demonstrate that the XPB, XPD, p44, and p62 proteins interact with each other. XPG protein interacts with multiple subunits of TFIIH and with CSB protein. ..
  41. Cifci S, Yilmaz M, Pehlivan M, Sever T, Okan V, Pehlivan S. DNA repair genes polymorphisms in multiple myeloma: no association with XRCC1 (Arg399Gln) polymorphism, but the XRCC4 (VNTR in intron 3 and G-1394T) and XPD (Lys751Gln) polymorphisms is associated with the disease in Turkish patients. Hematology. 2011;16:361-7 pubmed publisher
    ..These data provide support for the hypothesis that a common variation in the genes encoding XRCC4 DNA repair proteins may contribute to susceptibility to myeloma. These findings require further validation in independent populations. ..
  42. Busso D, Keriel A, Sandrock B, Poterszman A, Gileadi O, Egly J. Distinct regions of MAT1 regulate cdk7 kinase and TFIIH transcription activities. J Biol Chem. 2000;275:22815-23 pubmed
  43. McWilliams R, Bamlet W, Cunningham J, Goode E, de Andrade M, Boardman L, et al. Polymorphisms in DNA repair genes, smoking, and pancreatic adenocarcinoma risk. Cancer Res. 2008;68:4928-35 pubmed publisher
    ..Allele and genotype frequencies for 16 SNPs in DNA repair genes ERCC1, XPD/ERCC2, XPC, XPF/ERCC4, OGG1, and XRCC1 were compared after adjusting for age, sex, and smoking history...
  44. Zafeer M, Mahjabeen I, Kayani M. Increased expression of ERCC2 gene in head and neck cancer is associated with aggressive tumors: a systematic review and case-control study. Int J Biol Markers. 2016;31:e17-25 pubmed publisher
    The excision repair cross-complementation group 2 (ERCC2) ATP-dependent helicase is an essential member of the DNA repair pathway...
  45. Kunze S, Dalke C, Fuchs H, Klaften M, Rössler U, Hornhardt S, et al. New mutation in the mouse Xpd/Ercc2 gene leads to recessive cataracts. PLoS ONE. 2015;10:e0125304 pubmed publisher
    ..Using exome sequencing, we identified a c.2209T>C mutation in the Xpd/Ercc2 gene leading to a Ser737Pro exchange. During embryonic development, the mutant eyes did not show major changes...
  46. Sakano S, Hinoda Y, Sasaki M, Wada T, Matsumoto H, Eguchi S, et al. Nucleotide excision repair gene polymorphisms may predict acute toxicity in patients treated with chemoradiotherapy for bladder cancer. Pharmacogenomics. 2010;11:1377-87 pubmed publisher
    ..However, further studies with larger sample sizes are needed to draw final conclusions. ..
  47. Luo Y, Wang B, Zhou Z, Ding X, Hu S, Zhou G, et al. Polymorphisms of the DNA repair genes XPD and XRCC1 and the risk of age-related cataract development in Han Chinese. Curr Eye Res. 2011;36:632-6 pubmed publisher
    ..These results suggest that polymorphisms in XRCC1 codon 399 may be associated with the development of age-related cataract in Han Chinese. ..
  48. Qadri I, Conaway J, Conaway R, Schaack J, Siddiqui A. Hepatitis B virus transactivator protein, HBx, associates with the components of TFIIH and stimulates the DNA helicase activity of TFIIH. Proc Natl Acad Sci U S A. 1996;93:10578-83 pubmed
    ..We have identified ERCC3 and ERCC2 DNA helicase subunits of holoenzyme TFIIH as targets of HBx interactions...
  49. Srivastava K, Srivastava A, Kumar A, Mittal B. Gallbladder cancer predisposition: a multigenic approach to DNA-repair, apoptotic and inflammatory pathway genes. PLoS ONE. 2011;6:e16449 pubmed publisher
    ..The genes included in the study were XRCC1, OGG1, ERCC2, MSH2, CASP8, TLR2, TLR4 and PTGS2...
  50. Lambrechts S, Lambrechts D, Despierre E, Van Nieuwenhuysen E, Smeets D, Debruyne P, et al. Genetic variability in drug transport, metabolism or DNA repair affecting toxicity of chemotherapy in ovarian cancer. BMC Pharmacol Toxicol. 2015;16:2 pubmed publisher
    ..017, OR = 0.55, 95% CI 0.33-0.90) and rs1799793 (ERCC2, G > A; p = 0.042, OR = 0.63, 95% CI 0.41-0...
  51. Geredeli C, Artac M, Yildirim S, Inal A, Dede I, Guler T, et al. Prognostic value of ERCC1, ERCC2, XRCC1, and TP53 single nucleotide polymorphisms in patients with early-stage non-small cell lung cancer. Tumour Biol. 2015;36:4279-85 pubmed publisher
    ..The aim of this study was to evaluate the potential prognostic value of XRCC1, ERCC1, ERCC2, and TP53 single nucleotide polymorphisms (SNPs) in completely resected NSCLC patients...
  52. Yap K, Kiyotani K, Tamura K, Antic T, Jang M, Montoya M, et al. Whole-exome sequencing of muscle-invasive bladder cancer identifies recurrent mutations of UNC5C and prognostic importance of DNA repair gene mutations on survival. Clin Cancer Res. 2014;20:6605-17 pubmed publisher
    ..0%), and TSC1 (12.3%). Patients who were carriers of somatic mutations in DNA repair genes (one or more of ATM, ERCC2, FANCD2, PALB2, BRCA1, or BRCA2) had a higher overall number of somatic mutations (P = 0.011)...
  53. Wan L, Lin Y, Sheu J, Huang C, Tsai Y, Tsai C, et al. Analysis of ERCC2/XPD functional polymorphisms in systemic lupus erythematosus. Int J Immunogenet. 2009;36:33-7 pubmed publisher
    ..Recent studies indicated that two genetic variations of ERCC2/XPD gene (rs1799793 in exon 10 and rs13181 in exon 23) have been found to exert negative influences on nucleotide ..
  54. Vinson R, Hales B. Nucleotide excision repair gene expression in the rat conceptus during organogenesis. Mutat Res. 2001;486:113-23 pubmed
    ..Exposure of the conceptus to a teratogen, 4-OOHCPA, induced malformations without affecting NER transcript levels. Thus, NER gene expression in the conceptus was unresponsive to regulation by DNA alkylation. ..
  55. Rossi D, Bryder D, Seita J, Nussenzweig A, Hoeijmakers J, Weissman I. Deficiencies in DNA damage repair limit the function of haematopoietic stem cells with age. Nature. 2007;447:725-9 pubmed
    ..These data are consistent with DNA damage accrual being a physiological mechanism of stem cell ageing that may contribute to the diminished capacity of aged tissues to return to homeostasis after exposure to acute stress or injury. ..
  56. Compe E, Malerba M, Soler L, Marescaux J, Borrelli E, Egly J. Neurological defects in trichothiodystrophy reveal a coactivator function of TFIIH. Nat Neurosci. 2007;10:1414-22 pubmed
    ..The discovery of an unexpected stabilizing function for TFIIH deepens our understanding of the pathogenesis and neurological manifestations observed in TTD individuals. ..
  57. de Boer J, van Steeg H, Berg R, Garssen J, de Wit J, van Oostrum C, et al. Mouse model for the DNA repair/basal transcription disorder trichothiodystrophy reveals cancer predisposition. Cancer Res. 1999;59:3489-94 pubmed
    ..These findings have important implications for the etiology of the human disorder and for the impact of NER on carcinogenesis. ..
  58. Abramenko I, Bilous N, Chumak A, Kostin A, Martina Z, Dyagil I. DNA repair polymorphisms in B-cell chronic lymphocytic leukemia in sufferers of Chernobyl Nuclear Power Plant accident. J Radiat Res. 2012;53:497-503 pubmed
    ..223). These preliminary data suggest a possible modifying role of Lys751Gln XPD polymorphism for the development of CLL, expecially in radiation-exposed persons. ..
  59. Bănescu C, Trifa A, Demian S, Benedek Lazar E, Dima D, Duicu C, et al. Polymorphism of XRCC1, XRCC3, and XPD genes and risk of chronic myeloid leukemia. Biomed Res Int. 2014;2014:213790 pubmed publisher
    ..10-2.69; P value = 0.019). This was also observed when analyzing the variant 751Gln allele (OR = 1.54; 95% CI = 1.13-2.11; P value = 0.008). Our results suggest that the XPD Lys751Gln variant genotype increases the risk of CML. ..
  60. Hermon M, Cairns N, Egly J, Fery A, Labudova O, Lubec G. Expression of DNA excision-repair-cross-complementing proteins p80 and p89 in brain of patients with Down Syndrome and Alzheimer's disease. Neurosci Lett. 1998;251:45-8 pubmed
    ..b>ERCC2-protein 80 kDa and ERCC3-protein p89 were determined in five individual brain regions of controls, aged DS and AD ..
  61. Compe E, Egly J. TFIIH: when transcription met DNA repair. Nat Rev Mol Cell Biol. 2012;13:343-54 pubmed publisher
    ..In this way, studies of TFIIH have revealed tight molecular connections between transcription and DNA repair and have helped to define the concept of 'transcription diseases'. ..
  62. Frederick G, Amirkhan R, Schultz R, Friedberg E. Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene. Hum Mol Genet. 1994;3:1783-8 pubmed
    ..approach previously used to demonstrate the correction of XP-D phenotypes following the introduction of the XPD (ERCC2) gene...
  63. Hernández Boluda J, Pereira A, Cervantes F, Alvarez Larran A, Collado M, Such E, et al. A polymorphism in the XPD gene predisposes to leukemic transformation and new nonmyeloid malignancies in essential thrombocythemia and polycythemia vera. Blood. 2012;119:5221-8 pubmed publisher
    ..2) and age for nonmyeloid malignancies (OR = 2.0; 95% CI, 1.4-2.8). These findings provide further evidence about the contribution of inherited genetic variations to the pathogenesis and clinical course of myeloproliferative neoplasms. ..
  64. Banerjee M, Sarkar J, Das J, Mukherjee A, Sarkar A, Mondal L, et al. Polymorphism in the ERCC2 codon 751 is associated with arsenic-induced premalignant hyperkeratosis and significant chromosome aberrations. Carcinogenesis. 2007;28:672-6 pubmed
    ..Arsenic exposure often leads to the development of hyperkeratosis, the precursor of arsenic-induced skin cancer. ERCC2 (excision repair cross-complementing rodent repair deficiency, complementation group 2) is a nucleotide excision ..
  65. Oh D, Lee K, Lee K, Sohn C, Park Y, Zang D, et al. A phase II trial of erlotinib in combination with gemcitabine and capecitabine in previously untreated metastatic/recurrent pancreatic cancer: combined analysis with translational research. Invest New Drugs. 2012;30:1164-74 pubmed publisher
    ..6%), vomiting (1.6%), anorexia (5.3%), rash (2.4%). The EGFR expression was associated with shorter OS and ERCC2 expression was associated with longer PFS and OS...
  66. El Tokhy M, Hussein N, Bedewy A, Barakat M. XPD gene polymorphisms and the effects of induction chemotherapy in cytogenetically normal de novo acute myeloid leukemia patients. Hematology. 2014;19:397-403 pubmed publisher
    ..Pretreatment assay of XPD Lys751Gln may help to anticipate cardiotoxicity in those at risk. Moreover, it may be considered a prognostic marker in AML cases. However, further large scale research is needed to verify its usefulness. ..