Personalized and Precision Medicine Journal

Abstract PTEN is a tumor suppressor gene with important roles in apoptosis. This gene is located on chromosome 10q23 and is one of the most frequently inactivated genes in cancers. Severe underexpression of PTEN has been reported in several types of cancer, including endometrial, prostate, breast, and brain cancer. Also, this gene is epigenetically silenced through aberrant hypermethylation of CpG islands on its promoter. The present study investigated the promoter methylation and expression levels of PTEN in patients with Non-Small Cell Lung Carcinoma (NSCLC).
The study included 20 patients with NSCLC, whose bisulfite-treated DNA samples were investigated using the Methyl-Specific PCR (MSP) with primers specific for either methylated or non-methylated forms of PTEN. PTEN expression was also assessed using real-time PCR.
 20 samples from NSCLC patients, 70% (n=14) showed PTEN underexpression, while 85% (n=17) had PTEN promoter methylation. Also, 12 of 17 (70%) samples with PTEN promoter methylation had concomitant PTEN underexpression.
According to our results, there was a significant correlation between the PTEN promoter methylation and NSCLC. PTEN underexpression and promoter methylation were also significantly correlated.

Abstract TERT It has been shown that TERT is overexpressed in 90% of human cancers, and genetic alterations in the proximal promoter of TERT are significantly associated with a variety of different cancer types. In recent years, a new mechanism of TERT regulation through the non-coding driver mutations (C228T and C250T) in the TERT promoter has been reported in several cancer types. In the present study, we investigated the relationship between the Single Nucleotide Polymorphism (SNP) rs2853669 and cervical cancer.
The study included 80 individuals, including 50 patients with cervical cancer and 30 healthy controls. The samples from the participants underwent sequencing and genotyping using the Polymerase Chain Reaction - Restriction Fragment Length Polymorphism (PCR-RFLP) method.
It was found that 16%, 24%, and 60% of the cervical cancer samples had the genotypes of AA, AG, and GG, respectively. In the control group, the frequencies were 13.33%, 50%, and 36.66% of the samples for the genotypes of AA, AG, and GG, respectively. 
According to our findings, there was a significant association between the recessive model GG vs. AA+AG and cervical cancer susceptibility.