Association Between Human Telomerase Reverse Transcriptase Gene Variations and Risk of Developing Breast Cancer

Despite a reduction in the number of deaths from cancers made possible by the development of early detection tests, improvements in treatment, changes in the age distribution of the population, and changes of personal behaviors as a result of awareness, breast cancer remains a major health problem worldwide. Breast cancer is the most common cancer and second leading cause of cancer death in women. Several genetic and environmental factors are known to be involved in breast cancer pathogenesis, but its exact etiology is complicated and is not clearly identified. The structure and integrity of telomeres are pivotal for genome stability, and telomere length is maintained by the expression of the telomerase enzyme. The human telomerase reverse transcriptase (hTERT) gene is a principal functional subunit of the telomerase. Several recent studies have provided evidence that hTERT gene variants may have an important role in cancer development.

Three hTERT variants (rs2736100, rs2736098, and rs2853669) were genotyped for 107 breast cancer patients and 110 healthy controls to determine their effect on breast cancer susceptibility.

It was observed that hTERT rs2736098 was associated with breast cancer risk (odds ratio [OR] = 1.88; p = 0.034), while rs2736100 and rs2853669 did not significantly differ between the groups.

These findings are the first description of hTERT allele distributions in the Turkish population and may contribute to our understanding of breast cancer development. Nevertheless, further large-scale population studies are needed to understand the role of the hTERT polymorphisms and haplotypes in the development of breast cancer.