Author(s)

Shaymaa E. El Feky^1*, Fawziya A. Ibrahim², Medhat Haroun³, Mohammad Abdel-Rahman Ahmmad⁴, Mostafa Elnaggar⁵, Safaa Elghandour³, Nadia A. Abd El Moneim⁵

¹Department of Radiation Sciences, Medical Research Institute, University of Alexandria, Alexandria, Egypt.
²Department of Applied Medical Chemistry, Medical Research Institute, University of Alexandria, Alexandria, Egypt.
³Department of Biotechnology, Institute of Graduate Studies and Research, University of Alexandria, Alexandria, Egypt.
⁴Military Medical Academy, Alexandria, Egypt.
⁵Department of Cancer Management and Research, Medical Research Institute, University of Alexandria, Alexandria, Egypt.

Background: hTERT is a key player in telomere biology and its activity is directly related to cell senescence and development of many health-related problems including cancer. Although previous studies investigated this association, the results greatly vary among populations. This study aimed to investigate the association of hTERT gene SNPs and the risk of breast cancer (BC) in Egyptian females and their impact on telomere length (TL). Methods: 218 BC patients and 178 age-matched healthy females were genotyped for hTERT variants rs2736098G > A, rs2735940C > T using PCR-RFLP and for MNS16A tandem repeat using PCR to determine their association with breast cancer risk. Telomere length was measured using qPCR. Results: hTERT rs2736098G > A results indicated that both AG and GG genotypes and G allele were associated with an increased risk of BC. The rs2735940 TT genotype was significantly associated with BC risk, however, the MNS16A tandem repeat region polymorphism didn’t show any correlation with the risk of developing BC. TL showed a significant reduction in BC patients with age < 40 years compared with controls. However, it didn’t show a significant difference above the age of 40 years. Conclusions: hTERT rs2736098 and rs27365940, not MNS16A may be associated with an increased risk of developing BC in Egyptian females. Also, telomere length can be a promising screening marker of BC especially in young population.

Human Telomerase Reverse Transcriptase (hTERT), Single Nucleotide Polymorphism, Telomere Length, Breast Cancer Risk

Feky, S. , Ibrahim, F. , Haroun, M. , Ahmmad, M. , Elnaggar, M. , Elghandour, S. and Moneim, N. (2019) Genetic Variation of hTERT, Leukocyte Telomere Length and the Risk of Breast Cancer: A Case-Control Study in Egyptian Females. Advances in Breast Cancer Research, 8, 61-76. doi: 10.4236/abcr.2019.82005.