THOR is a targetable epigenetic biomarker with clinical implications in breast cancer

• Autor(a) principal: Apolónio, Joana
• Data de Publicação: 2022
• Outros Autores: Dias, João S., Fernandes, Mónica T., Komosa, Martin, Lipman, Tatiana, Zhang, Cindy H., Leão, Ricardo, Lee, Donghyun, Nunes, Nuno M., Maia, Ana-Teresa, Morera, José L., Vicioso, Luis, Tabori, Uri, Castelo-Branco, Pedro
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
• Texto Completo: http://hdl.handle.net/10400.1/18744

Breast cancer (BC) is the most frequently diagnosed cancer and a leading cause of death among women worldwide. Early BC is potentially curable, but the mortality rates still observed among BC patients demon‑ strate the urgent need of novel and more efective diagnostic and therapeutic options. Limitless self-renewal is a hallmark of cancer, governed by telomere maintenance. In around 95% of BC cases, this process is achieved by telom‑ erase reactivation through upregulation of the human telomerase reverse transcriptase (hTERT). The hypermethylation of a specifc region within the hTERT promoter, termed TERT hypermethylated oncological region (THOR) has been associated with increased hTERT expression in cancer. However, its biological role and clinical potential in BC have never been studied to the best of our knowledge. Therefore, we aimed to investigate the role of THOR as a biomarker and explore the functional impact of THOR methylation status in hTERT upregulation in BC.