A research team from the Algarve Biomedical Center Research Institute at the University of Algarve has just released a scientific article demonstrating the importance of DNA methylation patterns – mechanisms that regulate gene expression – in breast cancer pathology.
It’s important to note that DNA methylation patterns result in chemical modifications that occur in the DNA molecules of cells and can affect gene expression, influencing cell development and differentiation.
The analysis of DNA methylation patterns can provide crucial information about cell functioning and disease progression.
In this particular case, focusing on breast cancer, the research team is studying the methylation of a specific region of the TERT gene, which encodes the telomerase enzyme responsible for the unlimited renewal capacity of cancer cells in about 95% of breast cancer cases. This region is called the hypermethylated oncogenic region of TERT (THOR), and the researchers propose it as a promising diagnostic and therapeutic target for breast cancer.
As breast cancer is the most frequently diagnosed malignant tumor and one of the leading causes of death among women worldwide, this study is of special significance, especially considering that early detection increases the chances of survival and the quality of life for patients.
In an area where the need for new and more effective diagnostic and therapeutic options is urgent, the discovery of this biomarker could become an additional tool for breast cancer screening and early detection.
According to the research team, the results seem promising, as the methylation analysis of the THOR region allowed the differentiation between cancer and normal tissue from the earliest stage of the disease, highlighting the potential of this biomarker for screening and early detection.
According to Joana Apolónio, the first author of the scientific article, “the study of THOR hypermethylation may be the basis for the development of a non-invasive assay and, thus, improve clinical practice.”
Based on this research and to assess the potential of THOR as a biomarker in breast cancer, the researchers analyzed two independent groups of patients – comprising more than 250 patients in total – with invasive breast carcinoma using tissue samples from women diagnosed at the University Hospital Center of the Algarve.
The results demonstrated that patients with hypermethylated THOR exhibited higher levels of TERT gene expression, suggesting that THOR methylation acts as a positive regulatory mechanism for TERT activation, anticipating a more severe pathology or a worse prognosis in these cases.
The article, published in the scientific journal Clinical Epigenetics, sheds light on the crucial role DNA methylation can play in breast cancer pathology, emphasizing that certain epigenetic marks may have the potential to be used as biomarkers for the disease. Learn more about this research here.