THE EFFECT OF hTERT rs2736100 POLYMORPHIC SITE IN BREAST CANCER SUSCEPTIBILITY

Telomerase is a ribonucleoprotein polymerase that maintains telomere ends by addition of the telomere repeat TTAGGG. The enzyme consists of a protein component (hTERT) with reverse transcriptase activity, and an RNA component which is a catalytic subunit of the enzyme telomerase. TERT is responsible for catalyzing the addition of nucleotides in a TTAGGG sequence to the ends of a chromosome’s telomeres. Telomere deficiency is often linked to aging and cancers. Meanwhile, over-expression of hTERT is often associated with cancers and tumor formation. The regulation of hTERT is extremely important to the maintenance of stem and cancer cells and can be used in multiple ways in the field of regenerative medicine. An increasing number of studies suggest that single nucleotide polymorphisms (SNPs) within the TERT could influence the susceptibility and prognosis of human cancers. The aim of this study was to investigate the effect of hTERT polymorphism (rs2736100) on development of breast cancer (BC). The genotype 40 patients with BC and 50 healthy control subjects were compared. Genomic DNA was extracted form anticoagulated peripheral blood. Differences in genotype and allele frequencies between cases and controls were compared. In the present case-control study, we found that subjects with the hTERT variant genotype (GG) showed a significantly increased risk of BC relative to TT carriers. Further studies investigating the role of hTERT genetic variants in BC and replication of the present study in diverse ethnic groups are needed to better understand the pathobiology of BC.