DNA repair gene ERCC2 polymorphisms and associations with breast and ovarian cancer risk
DNA repair gene ERCC2 polymorphisms and associations with breast and ovarian cancer risk
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DOI：
10.1186/1476-4598-7-36
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发表时间：
2008-05-02
期刊：
影响因子：
37.3
通讯作者：
Bignon, Yves-Jean
中科院分区：
文献类型：
--
作者：
Bernard-Gallon, Dominique;Bosviel, Remy;Bignon, Yves-Jean
乳腺癌和卵巢癌在过去几十年中有所增加。除了极少数具有遗传易感性和高遗传率的病例外，这些病理被视为多基因疾病。在这个概念中，关联研究寻找遗传变异，如低多态性基因中的多态性，即与环境因素相互作用的基因。保护基因组免受有害的内源性和外源性损伤的DNA修复系统已显示显著减少。特别是，核苷酸切除修复途径的酶被怀疑与癌症有关。本研究对DNA修复基因ERCC 2的两个功能多态性进行了分析。该人群包括911例乳腺癌病例，51例卵巢癌病例和1000例对照。用MGB（小沟结合物）探针技术对群体进行2个SNP（单核苷酸多态性）的基因分型，该技术包括使用Taqman（R）方法的等位基因辨别。这项研究使我们能够表明，没有口服避孕药的妇女和妇女表现出腰臀比（WHR）> 0.85的ERCC 2 3/2的Asn纯合子乳腺癌的风险增加。
Breast and ovarian cancers increased in the last decades. Except rare cases with a genetic predisposition and high penetrance, these pathologies are viewed as a polygenic disease. In this concept, association studies look for genetic variations such as polymorphisms in low penetrance genes, i.e. genes in interaction with environmental factors. DNA repair systems that protect the genome from deleterious endogenous and exogenous damages have been shown to have significantly reduced. In particular, enzymes of the nucleotide excision repair pathway are suspected to be implicated in cancer. In this study, 2 functional polymorphisms in a DNA repair gene ERCC2 were analyzed. The population included 911 breast cancer cases, 51 ovarian cancer cases and 1000 controls. The genotyping of 2 SNP (Single Nucleotide Polymorphism) was carried out on the population with the MGB (Minor Groove Binder) probe technique which consists of the use of the allelic discrimination with the Taqman(R) method. This study enabled us to show an increase in risk of breast cancer with no oral contraceptive users and with women exhibiting a waist-to-hip ratio (WHR) > 0.85 for Asn homozygous for ERCC2 3/2.