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 the pathology of breast cancer. Note that DNA methylation patterns result in chemical modifications that occur in the DNA molecules of cells and can affect gene expression and influence cellular development and differentiation. Analysis of DNA methylation patterns can provide important 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 and is responsible for the ability of cancer cells to renew themselves indefinitely in about 95% of breast cancer cases. This region is called the TERT hypermethylated oncogenic region (THOR), and the researchers propose it as a promising diagnostic and therapeutic target for breast cancer.
Breast cancer is the most frequently diagnosed malignant tumor and one of the leading causes of death among women worldwide, making this study particularly important, especially considering that early detection of the disease increases the chances of survival and 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 may serve as an additional tool for screening and early diagnosis of breast cancer.
For the research team, the results seem promising, as methylation analysis of the THOR region allowed differentiation between cancer and normal tissue from the earliest stages of the disease, demonstrating the potential of this biomarker. According to the researchers, represented by Joana Apolónio, member of the team, “the study of THOR hypermethylation may form the basis for the development of a non-invasive assay, thus improving clinical practice.”
Based on this research, and to evaluate 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 Algarve University Hospital Center. The results showed that patients with hypermethylated THOR had higher levels of TERT gene expression, suggesting that THOR methylation acts as a positive regulation mechanism of TERT activation, indicating a more severe pathology or worse prognosis in these cases.
The article, published in the scientific journal Clinical Epigenetics, sheds light on the important role that DNA methylation can play in the pathology of breast cancer, revealing that certain epigenetic marks may have the potential to be used as biomarkers for the disease.
More information here.