TITLE:
Genetic Variation of hTERT, Leukocyte Telomere Length and the Risk of Breast Cancer: A Case-Control Study in Egyptian Females
AUTHORS:
Shaymaa E. El Feky, Fawziya A. Ibrahim, Medhat Haroun, Mohammad Abdel-Rahman Ahmmad, Mostafa Elnaggar, Safaa Elghandour, Nadia A. Abd El Moneim
KEYWORDS:
Human Telomerase Reverse Transcriptase (hTERT), Single Nucleotide Polymorphism, Telomere Length, Breast Cancer Risk
JOURNAL NAME:
Advances in Breast Cancer Research,
Vol.8 No.2,
April
30,
2019
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.