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
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