Abstract
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.
Highlights
Breast cancer (BC) is a serious health problem that women face around the world
This study aimed to investigate the association of Human Telomerase Reverse Transcriptase (hTERT) gene single nucleotide polymorphisms (SNPs) and the risk of breast cancer (BC) in Egyptian females and their impact on telomere length (TL)
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
Summary
Breast cancer (BC) is a serious health problem that women face around the world. In 154 of 185 countries, BC is the most frequently diagnosed cancer according to the GLOBOCAN 2018 and is the highest mortality cause in women in more than 100 countries [1]. Due to the end-replication problem, telomeres are shortened in most somatic tissues, and are proposed physiological markers of aging and age-related pathology as well as cancer [5]. 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. 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. Conclusions: hTERT rs2736098 and rs27365940, not MNS16A may be associated with an increased risk of developing BC in Egyptian females. Telomere length can be a promising screening marker of BC especially in young population
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