Genomes and Genes
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
- Polymorphisms of the DNA repair genes XPD and XRCC1 and the risk of age-related macular degenerationEbru Gorgun
Department of Ophthalmology, Yeditepe University Medical Faculty, Istanbul, Turkey
Invest Ophthalmol Vis Sci 51:4732-7. 2010....
- The genotype distribution of the XRCC1, XRCC3, and XPD DNA repair genes and their role for the development of acute myeloblastic leukemiaAmani Sorour
Department of Clinical Pathology, Faculty of Medicine, Alexandria University, Alexandria, Egypt
Genet Test Mol Biomarkers 17:195-201. 2013....
- Genetic variation in XPD predicts treatment outcome and risk of acute myeloid leukemia following chemotherapyJames M Allan
Epidemiology and Genetics Unit, Department of Biology, University of York, York, United Kingdom, YO10 5YW
Blood 104:3872-7. 2004..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...
- DNA repair polymorphisms associated with cytogenetic subgroups in B-cell chronic lymphocytic leukemiaChristina Ganster
Department of Medical Genetics, Medical University of Vienna, Vienna, Austria
Genes Chromosomes Cancer 48:760-7. 2009..However, differences were observed in the distribution of rs13181 in ERCC2 between all CLL patients and controls...
- DNA repair gene XPD and XRCC1 polymorphisms and the risk of childhood acute lymphoblastic leukemiaBahadir Batar
Department of Medical Biology, Cerrahpasa Faculty of Medicine, University of Istanbul, Istanbul, Turkey
Leuk Res 33:759-63. 2009....
- Polymorphisms in DNA repair genes and therapeutic outcomes of AML patients from SWOG clinical trialsNataliya Kuptsova
Department of Cancer Prevention and Control, Roswell Park Cancer Institute, Elm and Carlton Streets, Buffalo, NY 14263, USA
Blood 109:3936-44. 2007..With validation of results in larger samples, these findings could lead to optimizing individual chemotherapy options...
- Polymorphisms at XPD and XRCC1 DNA repair loci and increased risk of oral leukoplakia and cancer among NAT2 slow acetylatorsMousumi Majumder
Human Genetics Unit, Biological Sciences Division, Indian Statistical Institute, 203 B T Road, Kolkata 700108, India
Int J Cancer 120:2148-56. 2007..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...
- Nucleotide excision repair gene polymorphisms may predict acute toxicity in patients treated with chemoradiotherapy for bladder cancerShigeru Sakano
Department of Urology, Graduate School of Medicine, Yamaguchi University, 1 1 1 Minami kogushi, Ube, Yamaguchi 755 8505, Japan
Pharmacogenomics 11:1377-87. 2010..We investigated associations between functional genetic polymorphisms involved in DNA repair and acute toxicity of CRT to determine the predictive value of these polymorphisms for toxicity...
- A history of TFIIH: two decades of molecular biology on a pivotal transcription/repair factorJean Marc Egly
IGBMC, Program of Functional Genomics and Cancer, CNRS INSERM ULP, BP 163, 67404 Illkirch Cedex, C U Strasbourg, France
DNA Repair (Amst) 10:714-21. 2011..This review intends to give a non-exhaustive survey of the most prominent discoveries on the molecular functioning of TFIIH...
- Polymorphisms of the DNA repair genes XPD and XRCC1 and the risk of age-related cataract development in Han ChineseYong Feng Luo
Department of Ophthalmology, Second Affiliated Hospital of Harbin Medical University, Harbin, China
Curr Eye Res 36:632-6. 2011....
- Polymorphisms of DNA repair genes OGG1 and XPD and the risk of age-related cataract in EgyptiansAmal F Gharib
Department of Medical Biochemistry, Faculty of Medicine, Zagazig University, Zagazig, Egypt
Mol Vis 20:661-9. 2014..To analyze the association of the polymorphisms of xeroderma pigmentosum complementation group D (XPD) and 8-oxoguanine glycosylase-1 (OGG1) genes with the risk of age-related cataract (ARC) in an Egyptian population...
- Investigation of DNA repair gene variants on myelodysplastic syndromes in a Turkish populationMehmet Burak Aktuglu
Department of Internal Medicine, Istanbul Haseki Training and Research Hospital, Istanbul, Turkey
Med Oncol 31:174. 2014..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...
- An Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeriaJaan Olle Andressoo
Medical Genetics Center, Department of Cell Biology and Genetics, Center of Biomedical Genetics, Cancer Genomics Center, Erasmus Medical Center, Dr Molewaterplein 50, 3015 GE, Rotterdam, The Netherlands
Cancer Cell 10:121-32. 2006..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...
- Polymorphisms in XPC, XPD and XPG DNA repair genes and leukemia risk in a Tunisian populationKais Douzi
Laboratory of molecular and cellular hematology, Pasteur Institute of Tunis, University of Tunis El Manar, Tunis, Tunisia
Leuk Lymphoma 56:1856-62. 2015..Further studies with larger samples and risk factor information are needed. ..
- Whole-exome sequencing of muscle-invasive bladder cancer identifies recurrent mutations of UNC5C and prognostic importance of DNA repair gene mutations on survivalKai Lee Yap
Department of Medicine, Section of Hematology Oncology, The University of Chicago, Chicago, Illinois
Clin Cancer Res 20:6605-17. 2014....
- A polymorphism in the XPD gene predisposes to leukemic transformation and new nonmyeloid malignancies in essential thrombocythemia and polycythemia veraJuan Carlos Hernández-Boluda
Hematology and Medical Oncology Department, Hospital Clinico Universitario, Valencia, Spain
Blood 119:5221-8. 2012..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...
- DNA repair polymorphisms in B-cell chronic lymphocytic leukemia in sufferers of Chernobyl Nuclear Power Plant accidentIryna Abramenko
Research Center for Radiation Medicine, National Academy of Medical Sciences of Ukraine, Kyiv, Ukraine
J Radiat Res 53:497-503. 2012..223). These preliminary data suggest a possible modifying role of Lys751Gln XPD polymorphism for the development of CLL, expecially in radiation-exposed persons...
- Genetic variability in drug transport, metabolism or DNA repair affecting toxicity of chemotherapy in ovarian cancerSandrina Lambrechts
Division of Gynaecologic Oncology and Leuven Cancer Institute, University Hospitals Leuven, KU Leuven, Herestraat 49, 3000, Leuven, Belgium
BMC Pharmacol Toxicol 16:2. 2015..This study aimed to determine whether single nucleotide polymorphisms (SNPs) in genes involved in DNA repair or metabolism of taxanes or platinum could predict toxicity or response to first-line chemotherapy in ovarian cancer...
- Effects of compound heterozygosity at the Xpd locus on cancer and ageing in mouse modelsMarieke van de Ven
Medical Genetics Center, Department of Cell Biology and Genetics, Center of Biomedical Genetics, P O Box 1738, Erasmus MC, 3000DR Rotterdam, The Netherlands
DNA Repair (Amst) 11:874-83. 2012..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...
- 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 patientsS Cifci
Department of Internal Medicine, School of Medicine, Gaziantep, Turkey
Hematology 16:361-7. 2011....
- Phase II studies of gemcitabine and cisplatin in heavily and minimally pretreated metastatic breast cancerHelen K Chew
Department of Internal Medicine, Division of Hematology Oncology, University of California Davis, Sacramento, CA 95817, USA
J Clin Oncol 27:2163-9. 2009..Two parallel, phase II trials were conducted to evaluate the response rate, response duration, and toxicities of the combination. Genetic polymorphisms were analyzed for correlation with outcomes...
- Haplotypes of DNA repair and cell cycle control genes, X-ray exposure, and risk of childhood acute lymphoblastic leukemiaAnand P Chokkalingam
Division of Epidemiology, School of Public Health, University of California Berkeley, 1995 University Avenue, Berkeley, CA 94704, USA
Cancer Causes Control 22:1721-30. 2011..These abnormalities may be influenced by altered DNA repair and cell cycle control processes...
- A phase II trial of erlotinib in combination with gemcitabine and capecitabine in previously untreated metastatic/recurrent pancreatic cancer: combined analysis with translational researchDo Youn Oh
Department of Internal Medicine, Seoul National University Hospital, 28 Yongondong, Chongno Gu, Seoul, 110 744, Korea
Invest New Drugs 30:1164-74. 2012..To confirm the efficacy and toxicity of Erlotinib in combination with Gemcitabine and Capecitabine when used as a first-line therapy in metastatic/recurrent pancreatic cancer (PC)...
- Acute myeloid leukemia outcome: role of nucleotide excision repair polymorphisms in intermediate risk patientsSara S Strom
Epidemiology, University of Texas M D Anderson Cancer Center, Houston, TX 77030, USA
Leuk Lymphoma 51:598-605. 2010..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...
- Polymorphism of XRCC1, XRCC3, and XPD genes and risk of chronic myeloid leukemiaClaudia Bănescu
Department of Medical Genetics, University of Medicine and Pharmacy Tirgu Mures, 38 Gh, Marinescu Street, Romania
Biomed Res Int 2014:213790. 2014..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...
- Nucleotide excision repair gene expression in the rat conceptus during organogenesisR K Vinson
Department of Pharmacology and Therapeutics, McGill University, 3655 Promenade Sir William Osler, Montreal, H3G 1Y6, Quebec, Canada
Mutat Res 486:113-23. 2001..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...
- Associations between ERCC2 polymorphisms and gliomasM Caggana
Division of Genetic Disorders, New York State Department of Health, Wadsworth Center, Albany 12201 0509, USA
Cancer Epidemiol Biomarkers Prev 10:355-60. 2001Xeroderma 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...
- mRNA levels of the hypoxia inducible factor (HIF-1) and DNA repair genes in perinatal asphyxia of the ratM Chiappe-Gutierrez
University of Vienna, Dpt of Pediatrics, Austria
Life Sci 63:1157-67. 1998..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...
- Phase 1a/1b and pharmacogenetic study of docetaxel, oxaliplatin and capecitabine in patients with advanced cancer of the stomach or the gastroesophageal junctionMaarten J Deenen
Division of Medical Oncology, Department of Clinical Pharmacology, The Netherlands Cancer Institute, Amsterdam, The Netherlands
Cancer Chemother Pharmacol 76:1285-95. 2015..Secondary objectives included pharmacokinetic and pharmacogenetic analyses...
- Gallbladder cancer predisposition: a multigenic approach to DNA-repair, apoptotic and inflammatory pathway genesKshitij Srivastava
Department of Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India
PLoS ONE 6:e16449. 2011..The genes included in the study were XRCC1, OGG1, ERCC2, MSH2, CASP8, TLR2, TLR4 and PTGS2...
- Nucleotide excision repair: new tricks with old bricksIrene Kamileri
Institute of Molecular Biology and Biotechnology, Foundation for Research and Technology Hellas, Nikolaou Plastira 100, 70013, Heraklion, Crete, Greece
Trends Genet 28:566-73. 2012..Together, these findings add new pieces to the puzzle for understanding NER and the relevance of NER defects in development and disease...
- TFIIH: when transcription met DNA repairEmmanuel Compe
Institut de Genetique et de Biologie Moleculaire et Cellulaire, CNRS INSERM UdS, BP 163, 67404 Illkirch Cedex, C U, Strasbourg, France
Nat Rev Mol Cell Biol 13:343-54. 2012..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'...
- Genetic polymorphisms and the efficacy and toxicity of cisplatin-based chemotherapy in ovarian cancer patientsA V Khrunin
Department of Molecular Bases of Human Genetics, Institute of Molecular Genetics, Russian Academy of Sciences, Moscow, Russia
Pharmacogenomics J 10:54-61. 2010..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...
- Analysis of ERCC2/XPD functional polymorphisms in systemic lupus erythematosusL Wan
Human Genetic Center, China Medical University Hospital, Taichung, Taiwan
Int J Immunogenet 36:33-7. 2009..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 ..
- Association of XPD polymorphisms with prostate cancer in Taiwanese patientsDa Tian Bau
Department of Medical Research, China Medical University Hospital, Taichung, Taiwan, ROC
Anticancer Res 27:2893-6. 2007..Polymorphic variants of XPD, at codon 312, 751, and other sites, have been associated with cancer susceptibility, but few studies have investigated their effect on prostate cancer risk...
- Expression of DNA excision-repair-cross-complementing proteins p80 and p89 in brain of patients with Down Syndrome and Alzheimer's diseaseM Hermon
University of Vienna, Department of Pediatrics, Austria
Neurosci Lett 251:45-8. 1998..b>ERCC2-protein 80 kDa and ERCC3-protein p89 were determined in five individual brain regions of controls, aged DS and AD ..
- Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) geneG D Frederick
Department of Pathology, University of Texas Southwestern Medical Center, Dallas 75235
Hum Mol Genet 3:1783-8. 1994..approach previously used to demonstrate the correction of XP-D phenotypes following the introduction of the XPD (ERCC2) gene...
- Polymorphisms in DNA repair genes, smoking, and pancreatic adenocarcinoma riskRobert R McWilliams
Division of Medical Oncology, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA
Cancer Res 68:4928-35. 2008..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...
- The XPD Asp312Asn and Lys751Gln polymorphisms, corresponding haplotype, and pancreatic cancer riskLi Jiao
Department of Gastrointestinal Medical Oncology, The University of Texas M D Anderson Cancer Center, Unit 426, 1515 Holcombe Boulevard, Houston, TX 77030, USA
Cancer Lett 245:61-8. 2007..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...
- Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancyJ M Graham
Medical Genetics Birth Defects Center, Cedars Sinai Medical Center, UCLA School of Medicine, Los Angeles, CA 90048, USA
Am J Hum Genet 69:291-300. 2001..This result strongly underlines the need for screening of patients with COFS syndrome, for either UV sensitivity or DNA-repair abnormalities...
- DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patientK Takayama
Biological and Biotechnology Research Program, Lawrence Livermore National Laboratory, Livermore, California 94551 0808, USA
Hum Mutat 9:519-25. 1997..Nucleotide sequence analysis of the ERCC2 (XPD) DNA repair and transcription gene cDNA revealed both a Leu461-to-Val substitution and a deletion of amino ..
- Hepatitis B virus transactivator protein, HBx, associates with the components of TFIIH and stimulates the DNA helicase activity of TFIIHI Qadri
Department of Microbiology, University of Colorado Health Sciences Center, Denver 80262, USA
Proc Natl Acad Sci U S A 93:10578-83. 1996..We have identified ERCC3 and ERCC2 DNA helicase subunits of holoenzyme TFIIH as targets of HBx interactions...
- Molecular Epidemiology of Myelodysplastic SyndromesSara Strom; Fiscal Year: 2002..The identification of risk factors associated with the development of MDS is an important health concern, as it could lead to the eventual prevention of this syndrome and consequent reduction in the incidence of AML. ..
- Venous thromboembolism among California cancer patientsHelen Chew; Fiscal Year: 2003..abstract_text> ..
- PROSTATE CANCER IN MEXICANS AMERICANS & AFRICAN AMERICANSara Strom; Fiscal Year: 2003..Understanding how genetic predisposition and exogenous exposures interact to determine prostate cancer susceptibility will allow the development of more effective ethnic-specific prevention strategies. ..
- Molecular Epidemiology of t-MDS/AMLSara Strom; Fiscal Year: 2007..We believe that this study will provide future hypotheses for research into treatment- related malignancies, and may lead to eventual improvements in cancer survivorship. [unreadable] [unreadable] [unreadable]..