%0 Journal Article
%T DNA repair gene ERCC2 polymorphisms and associations with breast and ovarian cancer risk
%A Dominique Bernard-Gallon
%A R¨Śmy Bosviel
%A Laetitia Delort
%A Luc Fontana
%A Alain Chamoux
%A Nad¨¨ge Rabiau
%A Fabrice Kwiatkowski
%A Nass¨Śra Chalabi
%A Samir Satih
%A Yves-Jean Bignon
%J Molecular Cancer
%D 2008
%I BioMed Central
%R 10.1186/1476-4598-7-36
%X High levels of DNA damage, caused by excessive exposure to carcinogens, might be responsible for increased breast cancer susceptibility in women known to have significantly reduced DNA repair proficiencies [1]. In particular, dysfunctions of the nucleotide excision repair (NER) pathway are known or suspected to be involved in cancer. The DNA helicase encoded by the excision repair cross-complementing group 2 gene ERCC2 (formely XPD) is one of seven nucleotide excision repair enzymes that cause Xeroderma Pigmentosum when mutated in germ line [2]. Several polymorphisms have been identified in this gene and particularly the Asp312Asn ERCC2 polymorphism which consists of the substitution of a G to A resulting in an amino acid change in the coding region, and the Lys751Gln which consists in a A to C substitution in the coding region [3]. A change of amino acid is able to modify the effect of protein more or less, which can translate by an effect on the systems of repair and consequently on the carcinogenesis. Conflicting data on the roles of these polymorphisms on cancer risk including breast and ovarian cancers have been described [4-6].The objective of this study was to establish the role of two functional polymorphisms of a DNA repair gene ERCC2 in the risk of breast or ovarian cancer. We investigated the possible interactions between these polymorphisms and specific environmental factors (reproductive factors, body mass index, tobacco smoking...) which could influence the risk of cancer.In this breast cancer population (Table 1), no significant differences were found between breast cancer cases and controls. A trend to the increase in breast cancer risk could be observed with heterozygous women for the SNP at position 312 of ERCC2 protein (OR = 1.06; 95% CI = 0.93¨C1.21) after adjustment for age. For ovarian cancer (Table 2), there was no significant modification in the risk for the two studied SNP.Results concerning interactions between environmental factors and risk
%U http://www.molecular-cancer.com/content/7/1/36