Absence of Hotspot TERT Promoter Mutations in Brazilian Patients with Breast

Breast cancer is the most common malignancy in women, with increasing rates worldwide. Breast carcinomas are considered a heterogeneous complex disease and despite several studies regarding its molecular aspects, some high-risk genes have not been reported in certain populations. Hotspot mutations (c.-124 bp G>A and c.-146 bp G>A) in the telomerase reverse transcriptase (TERT) promoter in several types of solid tumors has been recently described. However, no extensive studies have evaluated such sequence alterations in breast carcinoma. In this study, we aimed to determine the frequency of hotspot TERT promoter mutations using Sanger sequencing in a series of 99 Brazilian patients with breast cancer. The mutation analysis showed the absence of mutations in the hotspots of the TERT promoter but revealed a high frequency of the rs2853669 minor allele. We can conclude that TERT somatic hotspot mutations are not a contributing factor in breast cancer carcinogenesis in the Brazilian population.