UAlg researchers lead study to reveal new breast cancer biomarker
This biomarker is associated to the most common mutations in breast cancer and may help identify the most suitable treatment for each patient.
Researcher Ana Teresa Maia says: "In this work we looked at the PIK3CA gene, which is the most frequently mutated gene in breast tumours, and tried to understand its clinical importance, which until now was quite elusive". The researchers found that when they assess these mutations differently than is currently done they have an important clinical character, being indicative of each patient's prognosis. "It's as if we were looking at the same thing, but with different glasses," says the researcher. Ana Teresa Maia also explains: "Of the various molecules that exist in a cell, DNA contains the basic information about cellular functioning, including the mutations responsible for tumours. But RNA reveals the expression of this information, that is, it represents the way in which the information is read. It was by looking at the RNA of tumours from different clinical centres that we identified a relationship between the expression of mutations and the likelihood of survival of these patients, the clinical and molecular characteristics of the tumours, as well as the mechanisms we think underlie these associations."
This work was collaborated with partners from the University of Cambridge and the Netherlands Cancer Institute, among others.
Questioned about the impact that this discovery may have in the community or in people's lives, Ana Teresa Maia explains that "since last year, the use of a specific drug to treat tumours with these mutations was approved. We believe that studies such as ours will help to identify with high precision the patients that can benefit from this innovative treatment".
The results achieved are crucial for patients and doctors. "The patients because they see improvements in the understanding of the disease and its clinical management, which leads to increased quality of life and chances of survival. The doctors, because they will have another piece of the puzzle in their hands, which will increase their confidence in their clinical decisions," concludes the researcher.
This work has already given rise to a patent application for the development of tests for integration in clinical practice and has also been awarded by the National Innovation Agency (ANI), through the Born from Knowledge (BfK) Ideas contest, which aims to promote a culture of valorisation of scientific and technological knowledge in Portugal. Currently, a spin-off was created installed in UALG TEC START, incubator of UAlg, for licensing and development of the technology.
The article can be found at https://www.nature.com/articles/s41523-022-00435-9