Sliwinski T, Krupa R, Wisniewska-Jarosinska M, Lech J, Morawiec Z, Chojnacki J, Blasiak J
Department of Molecular Genetics, University of Lodz, Banacha, Lodz, Poland.
Exp Oncol. 2008 Sep;30(3):253-4.
The risk of sporadic colorectal cancer can be associated with environmental and lifestyle factors that may be sources of physical and chemical carcinogens, modulated by products of many low penetrance genes. Polymorphisms of DNA repair genes may influence variation in individual DNA repair capacity, which is crucial for preventing genomic instability, which, in turn, may be associated with risk of cancer. XRCC1 is an essential protein for the base excision repair pathway which primarily deals with DNA base modifications, arisen spontaneously or as a consequence of the action of environmental factors.
To perform a case-control study and test the association between two polymorphisms in the XRCC1 gene: Arg194Trp and Arg399Gln and colorectal cancer risk and progression.
Genotypes were determined in DNA from peripheral blood lymphocytes of 100 colorectal cancer patients and 100 age, sex and ethnic-matched cancer-free controls by PCR RFLP.
We found that both polymorphisms of the XRCC1 gene were not associated with risk and progession of colorectal cancer in a Polish population. Moreover, there was not such association form the Arg194Trp/Arg399Gln haplotypes.
The Arg194Trp and Arg399Gln polymorphisms of the XRCC1 gene may not be associated with colorectal cancer in Polish population.
散发性结直肠癌的风险可能与环境和生活方式因素相关，这些因素可能是物理和化学致癌物的来源，并受到许多低外显率基因产物的调节。DNA修复基因的多态性可能影响个体DNA修复能力的差异，这对于预防基因组不稳定至关重要，而基因组不稳定反过来可能与癌症风险相关。XRCC1是碱基切除修复途径中的一种重要蛋白质，该途径主要处理自发产生或由环境因素作用导致的DNA碱基修饰。
进行一项病例对照研究，检测XRCC1基因中的两种多态性：Arg194Trp和Arg399Gln与结直肠癌风险及进展之间的关联。
通过聚合酶链反应-限制性片段长度多态性（PCR-RFLP）测定100例结直肠癌患者及100例年龄、性别和种族匹配的无癌对照者外周血淋巴细胞DNA中的基因型。
我们发现，在波兰人群中，XRCC1基因的这两种多态性均与结直肠癌的风险及进展无关。此外，Arg194Trp/Arg399Gln单倍型也不存在这种关联。
在波兰人群中，XRCC1基因的Arg194Trp和Arg399Gln多态性可能与结直肠癌无关。
