Analysis of the Polymorphisms and Expression Levels of the BCL2, BAX and c-MYC Genes in Patients with Ovarian Cancer

Ovarian cancer (OC) is one of the biggest problems in gynecological oncology and isone of the most lethal cancers in women worldwide. Most patients with OC are diagnosed at an advanced stage; therefore, there is an urgent need to find new biomarkers for this disease. Gene expression profiling is proving to be a very effective tool for exploring new molecular markers for OC patients, although the relationship between such markers and patient survival and clinical out comes is still elusive. Moreover, polymorphisms in genes encoding both apoptosis-associated proteins and oncoproteins may serve as key markers of cancer susceptibility. The aim of our study was to analyze the polymorphisms and expressions of theBCL2,BAXandc-MYCgenes in a group of198 women, including 98 with OC. The polymorphisms and mRNA expressions of theBCL2,BAXandc-MYCgenes were analyzed using real-time PCR. The analysis of the BAX(rs4645878; G>A)and c-MYC(rs4645943; C>T) polymorphisms showed no association with ovarian cancer risk. TheBCL2polymorphism (rs2279115; C>A) showed a significant difference in the frequency of genotypes between the studied groups (CC: 23.47% vs. 16.00%, AA: 25.51% vs. 37.00%;p= 0.046; OR = 1.61).Furthermore, the expression levels of theBCL2andc-MYCgenes showed a decrease at the transcript level for OC patients compared to the control group (BCL2: 17.46%+/- 3.26 vs. 100%+/- 8.32;p< 0.05;c-MYC: 37.56%+/- 8.16 vs. 100%+/- 9.12;p< 0.05). No significant changes in the mRNA level were observed for the BAXgene (104.36%+/- 9.26 vs. 100%+/- 9.44;p> 0.05). A similar relationship was demonstrated in the case of the protein expressions of the studied genes. These findings suggest that the CC genotype and C allele of theBCL2polymorphism could be genetic risk factors for OC development. A gene expression analysis indicated thatBCL2andc-MYCare associated with OC risk.