Association between TERT gene polymorphisms (rs2736100 and rs2736109) and breast cancer risk in the Iranian population: A case-control study

• Published in: Gene reports 2024-12, Vol.37, p.102088, Article 102088
• Main Authors: Kavishahi, Nima Nikbin, Shiryazdi, Seyed Mostafa, Shamsi, Farimah, Dadbinpour, Ali, Mazaheri, Mahta
• Format: Article
• Language: English
• Subjects: Breast cancer; Iran; rs2736100; rs2736109; TERT gene
• ISSN: 2452-0144; 2452-0144
• DOI: 10.1016/j.genrep.2024.102088

The level of hormones and genetic predispositions increase the risk of breast cancer. Genetic variations in the genes of the telomere pathway, which can influence the activity of telomerase, may be decisive for the development of breast cancer. Due to a lack of studies on TERT gene polymorphisms (rs2736100 and rs2736109) in the Iranian population, in this study we investigated the association of these polymorphisms with breast cancer in the Iranian population. A total of 300 individuals participated in this research, which included 150 breast cancer patients and 150 healthy controls. Participants' blood samples were collected before the beginning of treatment. The RFLP-PCR procedure was used for the genotyping of TERT gene rs2736109 and rs2736100 polymorphisms. There are statistically significant differences in the age of menarche and the age of menopause (P-value 0.05). For rs2736109, the frequency of the AA genotype was lower in the case group (12.0 % vs. 19.3 %). These differences reach a statistically significant level (P-value = 0.012). Individuals carrying AA genotype have a lower risk of suffering from breast cancer (odds ratio = 0.403, 95 % CI: 0.196–0.827). Our findings suggest that the rs27326109 polymorphism in the TERT gene is associated with a decreased risk of breast cancer. Also this study reveals that age of menarche and age of menopause are associated with risk of this disease. •Due to a lack of studies on TERT gene polymorphisms (rs2736100 and rs2736109) in the Iranian population, in this study we investigated the association between TERT gene polymorphisms, rs2736109 and rs2736100 and breast cancer in the Iranian population. Because of the location of these polymorphisms in TERT gene and the probable effect of them on expression of TERT, this study investigated the association between TERT gene polymorphisms rs2736109 and rs2736100 and breast cancer.•There are statistically significant differences between two groups in the age of menarche and the age of menopause (P-value < 0.05). suggesting that a higher age of menarche is associated with a lower risk of breast cancer but showing that a higher age of menopause is associated with a higher risk of breast cancer.•For rs2736100, the frequency of TT genotype in the case and control groups was 22.7% and