Mutagenesis, Vol. 17, No. 6, 463-469,
November 2002
© 2002 UK Environmental Mutagen Society/Oxford University Press
ERCC2/XPD gene polymorphisms and cancer risk
1 EMI 00-06, INSERM -Universite d’Evry, 91034 Evry, France and 2 Laboratory of Genetic Instability and Cancer, UPR2169-CNRS, 94801 Villejuif, France
DNA repair of bulky adducts is essential for a normal life, as demonstrated by the existence of rare but dramatic diseases, such as xeroderma pigmentosum (XP), associating DNA repair deficiency and a high cancer proneness. It is plausible that small variations in the efficacy of repair in the normal population may facilitate cancer development in exposed individuals. In order to check this hypothesis, associations between single nucleotide polymorphisms (SNPs) in key genes and some frequent human cancers have been researched. Among the repair proteins, the XPD protein is interesting because it is a major player in the nucleotide excision repair pathway and is also involved in transcription initiation and in the control of the cell cycle and apoptosis. Several SNPs have been described in the ERCC2/XPD gene, but three in particular have been studied: the C
A silent polymorphism (Arg156Arg) in exon 6, the GA polymorphism leading to Asp312Asn in exon 10 and the AC polymorphism leading to Lys751Gln in exon 23. We review here the epidemiological studies examining whether these polymorphisms are correlated with reduced DNA repair efficiency (analysed using different assays), their influence on the development of cutaneous carcinomas and smoking-related cancers and their possible interactions with environmental exposures.
3 To whom correspondence should be addressed at: EMI 00-06, INSERM – Universite d’Evry, Tour Evry 2, 523 Place des Terrasses de l’Agora, 91034 Evry Cedex, France. Tel: +33 1 60 87 38 36; Fax: +33 1 60 87 38 48; Email: benhamou{at}evry.inserm.fr
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  S. Mocellin, D. Verdi, and D. Nitti DNA repair gene polymorphisms and risk of cutaneous melanoma: a systematic review and meta-analysis Carcinogenesis, October 1, 2009; 30(10): 1735 - 1743. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
G. Liu, W. Zhou, B. Y. Yeap, L. Su, J. C. Wain, J. M. Poneros, N. S. Nishioka, T. J. Lynch, and D. C. Christiani XRCC1 and XPD polymorphisms and esophageal adenocarcinoma risk Carcinogenesis, June 1, 2007; 28(6): 1254 - 1258. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 D. F. Giachino, P. Ghio, S. Regazzoni, G. Mandrile, S. Novello, G. Selvaggi, D. Gregori, M. DeMarchi, and G. V. Scagliotti Prospective Assessment of XPD Lys751Gln and XRCC1 Arg399Gln Single Nucleotide Polymorphisms in Lung Cancer Clin. Cancer Res., May 15, 2007; 13(10): 2876 - 2881. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. Banerjee, J. Sarkar, J. K. Das, A. Mukherjee, A. K. Sarkar, L. Mondal, and A. K. Giri Polymorphism in the ERCC2 codon 751 is associated with arsenic-induced premalignant hyperkeratosis and significant chromosome aberrations Carcinogenesis, March 1, 2007; 28(3): 672 - 676. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. Queille, L. Luron, A. Spatz, M. F. Avril, V. Ribrag, P. Duvillard, C. Hiesse, A. Sarasin, J. P. Armand, and L. Daya-Grosjean Analysis of skin cancer risk factors in immunosuppressed renal transplant patients shows high levels of UV-specific tandem CC to TT mutations of the p53 gene Carcinogenesis, March 1, 2007; 28(3): 724 - 731. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A. G. Schwartz, G. M. Prysak, C. H. Bock, and M. L. Cote The molecular epidemiology of lung cancer Carcinogenesis, March 1, 2007; 28(3): 507 - 518. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 C. Li, Z. Hu, Z. Liu, L.-E Wang, S. S. Strom, J. E. Gershenwald, J. E. Lee, M. I. Ross, P. F. Mansfield, J. N. Cormier, et al. Polymorphisms in the DNA Repair Genes XPC, XPD, and XPG and Risk of Cutaneous Melanoma: a Case-Control Analysis Cancer Epidemiol. Biomarkers Prev., December 1, 2006; 15(12): 2526 - 2532. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
P. D. Terry and M. Goodman Is the Association between Cigarette Smoking and Breast Cancer Modified by Genotype? A Review of Epidemiologic Studies and Meta-analysis. Cancer Epidemiol. Biomarkers Prev., April 1, 2006; 15(4): 602 - 611. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 K. Yoder, A. Sarasin, K. Kraemer, M. McIlhatton, F. Bushman, and R. Fishel The DNA repair genes XPB and XPD defend cells from retroviral infection PNAS, March 21, 2006; 103(12): 4622 - 4627. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
K. Ekstrom Smedby, C. M. Lindgren, H. Hjalgrim, K. Humphreys, C. Schollkopf, E. T. Chang, G. Roos, L. P. Ryder, K. I. Falk, J. Palmgren, et al. Variation in DNA Repair Genes ERCC2, XRCC1, and XRCC3 and Risk of Follicular Lymphoma. Cancer Epidemiol. Biomarkers Prev., February 1, 2006; 15(2): 258 - 265. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 M. Wrensch, K. T. Kelsey, M. Liu, R. Miike, M. Moghadassi, J. D. Sison, K. Aldape, A. McMillan, J. Wiemels, and J. K. Wiencke ERCC1 and ERCC2 polymorphisms and adult glioma Neuro-oncol, October 1, 2005; 7(4): 495 - 507. [Abstract] [PDF]
|
|
|
|
|
|
A. G. Casson, Z. Zheng, S. C. Evans, P. J. Veugelers, G. A. Porter, and D. L. Guernsey Polymorphisms in DNA repair genes in the molecular pathogenesis of esophageal (Barrett) adenocarcinoma Carcinogenesis, September 1, 2005; 26(9): 1536 - 1541. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. Viguier, V. Boige, C. Miquel, M. Pocard, B. Giraudeau, J.-C. Sabourin, M. Ducreux, A. Sarasin, and F. Praz ERCC1 Codon 118 Polymorphism Is a Predictive Factor for the Tumor Response to Oxaliplatin/5-Fluorouracil Combination Chemotherapy in Patients with Advanced Colorectal Cancer Clin. Cancer Res., September 1, 2005; 11(17): 6212 - 6217. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
T. Paz-Elizur, D. E. Brenner, and Z. Livneh Interrogating DNA Repair in Cancer Risk Assessment Cancer Epidemiol. Biomarkers Prev., July 1, 2005; 14(7): 1585 - 1587. [Full Text] [PDF]
|
|
|
|
|
|
M. B. Schabath, G. L. Delclos, H. B. Grossman, Y. Wang, S. P. Lerner, R. M. Chamberlain, M. R. Spitz, and X. Wu Polymorphisms in XPD Exons 10 and 23 and Bladder Cancer Risk Cancer Epidemiol. Biomarkers Prev., April 1, 2005; 14(4): 878 - 884. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. Sadetzki, P. Flint-Richter, S. Starinsky, I. Novikov, Y. Lerman, B. Goldman, and E. Friedman Genotyping of Patients with Sporadic and Radiation-Associated Meningiomas Cancer Epidemiol. Biomarkers Prev., April 1, 2005; 14(4): 969 - 976. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
L. E. Mechanic, A. J. Marrogi, J. A. Welsh, E. D. Bowman, M. A. Khan, L. Enewold, Y.-L. Zheng, S. Chanock, P. G. Shields, and C. C. Harris Polymorphisms in XPD and TP53 and mutation in human lung cancer Carcinogenesis, March 1, 2005; 26(3): 597 - 604. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
C. Justenhoven, U. Hamann, B. Pesch, V. Harth, S. Rabstein, C. Baisch, C. Vollmert, T. Illig, Y.-D. Ko, T. Bruning, et al. ERCC2 Genotypes and a Corresponding Haplotype Are Linked with Breast Cancer Risk in a German Population Cancer Epidemiol. Biomarkers Prev., December 1, 2004; 13(12): 2059 - 2064. [Abstract] [Full Text] [PDF]
|
|