According to the researchers, represented by Joana Apolónio, UAlg researchers have revealed a potential biomarker for breast cancer.
Breast cancer is the most frequently diagnosed malignant tumor, and one of the main causes of death among women worldwide, so this study is extremely important, due to the fact that early detection of the disease increases the chances of survival and quality of life of patients.
In this particular case, and focusing on breast cancer, the research team is focused on studying the methylation of a specific region of the TERT gene, which encodes the telomerase enzyme, and which is responsible for the ability of cancer cells to renew themselves indefinitely in about 95% of breast cancer cases. This region is called the hypermethylated oncological region of TERT (THOR) and is proposed by researchers as a promising diagnostic and therapeutic target for breast cancer.
In an area where the need for new and more effective diagnostic and therapeutic options is urgent, the discovery of this biomarker could be assumed as an additional tool for screening and early diagnosis of breast cancer.
For the research team, the results seem promising since the methylation analysis of the THOR region allowed them to differentiate cancer from normal tissue right from the earliest stage of the disease, showing the potential of this biomarker for screening and early detection.
According to the researchers, represented by Joana Apolónio, “the study of THOR hypermethylation may form 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 of more than 250 patients in total - with invasive breast cancer, using tissue samples from of women diagnosed at the Centro Hospitalar Universitário do Algarve.
According to UAlg, the results obtained showed that patients who had hypermethylated THOR had higher levels of TERT gene expression, thus suggesting that THOR methylation acts as a mechanism of positive regulation of TERT activation, allowing them to foresee a pathology more severe or a worse prognosis in these cases.
The results article by Joana Apolónio, published in the scientific journal Clinical Epigenetics, sheds light on the important role that DNA methylation may play in the pathology of breast cancer, revealing that certain epigenetic marks may have the potential to be used as biomarkers of the disease.
