Joana Apolónio
Joana Apolónio

University of the Algarve researchers discover breast cancer biomarker

The UAlg researchers studied the methylation of a specific region of the TERT gene responsible for cancer cell renewal.

A research team from the Algarve Biomedical Center Research Institute (ABC-Ri) at the University of the Algarve (UAlg) has just released a scientific article demonstrating the importance of DNA methylation patterns (mechanisms that regulate gene expression) in breast cancer pathology.

As the researchers explain, DNA methylation patterns are translated into chemical changes that occur in the DNA molecules of cells, which can affect gene expression and influence cell development and differentiation.

Thus, the analysis of DNA methylation patterns can provide important information about the functioning of cells and the progression of diseases.

In this particular case, focusing on breast cancer, the research team concentrated on 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 without limit in about 95 per cent of breast cancer cases.

This region, called the hypermethylated oncological region of TERT (THOR), is suggested by researchers as a promising diagnostic and therapeutic target for breast cancer.

Since breast cancer is the most frequently diagnosed malignant tumour, and one of the leading causes of death among women worldwide, this study «is of particular importance. Especially if early detection of the disease increases the patient’s chances of survival and quality of life», assures the ABC-Ri.

According to the researchers, «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 THOR region’s methylation analysis made it possible 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.

Joana Apolónio, representative of the team of researchers and first author of the scientific article, reveals that «the study of THOR hypermethylation can form the basis for the development of a non-invasive test and thus improve clinical practice».

Based on this research, and to assess the potential of THOR as a biomarker in breast cancer, the researchers analysed two independent groups of patients (more than 250 in total) with invasive breast cancer, using tissue samples from women diagnosed at the Centro Hospitalar Universitário do Algarve (CHUA).

The results showed that patients with hypermethylated THOR had higher levels of TERT gene expression, thus suggesting that THOR methylation acts as a positive regulation mechanism of TERT activation, allowing to foresee a more serious pathology or a worse prognosis in these cases.

The article, published in the scientific journal «Clinical Epigenetics», reveals «the important role that DNA methylation may have in the pathology of breast cancer, revealing that certain epigenetic marks may have the potential to be used as biomarkers of the disease», concluded the UAlg researchers.