Lack of Telomerase Reverse Transcriptase Promoter C228T and C250T Hotspot Mutations in Colorectal Cancer Patients in Türkiye

Abstract

ABS TRACT Objective: Telomerase reverse transcriptase (TERT) is one of the catalytic subunits of the telomerase enzyme involved in the lengthening of telomeres during cell division. Two hotspot mutations in the promoter region of the TERT gene, C228T and C250T have been observed in many different types of cancer. Besides, a limited number of available studies are related to colorectal cancer. However, no study to date has analyzed these mutations in the Turkish population. Hence, this study aimed to determine the frequency of C228T and C250T hotspot mutations in Turkish patients with colorectal cancer. Material and Methods: Tumors and adjacent healthy tissues of 43 colorectal cancer patients were analyzed in the study material. After genomic DNA extraction, 163 bp DNA fragment of the TERT promoter region was amplified by polymerase chain reaction (PCR) method. PCR products were sequenced using the bi-directional Sanger technique and a wild- type TERT promoter sequence obtained from the National Center for Biotechnology Information database was used for the comparison and detection of mutations. Results: Sequence analysis revealed no mutations in the promoter region of the TERT gene in colorectal cancer tis- sues or in healthy tissues. Conclusion: These findings of the study suggest that colorectal cancer in the Turkish population is not associated with the TERT promoter C228T and C250T hotspot mutations.