Investigation of survivin gene polymorphisms in colon cancer patients

Colon cancer is one of the most common cancer worldwide. Pathogenesis of cancer is affected by mutations of genes which is undertaking the key task such as proliferation of cells, differantiation and survival and disease is developing by tracking a series of mutations in each other. Apoptosis, is a necessary physiological process for cell elimination which is very important both cellular homeostasis and cell proliferation and differantiation. Apoptosis is regulated by genetic mechanisms and control of this mechanisms can be distrupted in malign cells. This also leads to uncontrolled cell growth and tumor development. The relation between colon cancer and -31 G/C, -241 C/T, -625 C/G ve -1547 A/G polymorphism in promotor site of survivin gene associated with apoptosis was investigated by using PCR-RFLP method in this study. As a result of the study, individuals with -31C allele and CC genotype had a higher risk of developing colon cancer. -241 CT genotype was found to increase considerably in the risk of colon cancer (OR=12.0, p=0.0001). There was no statistically significant difference between -625 C/G polymorhism and colon cancer. It was found that Survivin -1547 AG genotype had 3.383 fold higher risk according to AA genotype (p=0.026). In addition, even in those with GG genotype were significantly higher risk of disease (p<0.005). Keywords: Cancer, Colon, Polymorphism, RFLP, Survivin