Project analyzed more than 2600 genomes of 38 tumor types “dispersed in several projects”.
A study on the causes of cancer, with the collaboration of a researcher from the Center for Research in Biodiversity and Genetic Resources (CIBIO-InBIO), shows that the scientific community is “closer to cataloging the biological pathways involved” in the disease.
The study, published in the scientific journal Nature, came under the “Pan-Cancer Analysis of Whole Genomes”, a project that started about six years ago which brought together more than 1300 scientists and clinical experts from 37 countries to analyze “causes of cancers previously unexplained”.
Speaking to Lusa, Nuno Fonseca, a CIBIO-InBIO researcher who was included in the investigation, explained that the project analyzed more than 2,600 genomes of 38 types of tumors “dispersed in several projects”. “The project tried to increase the amount of data and tried to have a more holistic view of the problem”, said the expert, referring that, in the scope of the project, 23 scientific articles were published. With the aim of “better understanding the causes and consequences of genetic changes in genomes”, but also in “non-coding [junk DNA]” regions, the study allowed “to expand and improve the methods of analysis”.
Among the various conclusions of this investigation, Nuno Fonseca highlighted that “cancer is a complex problem”, but the results indicate that the scientific community is “closer to cataloging all biological pathways” involved in the disease. “Cancer is a complex problem. More than 80 patterns of DNA changes that cause the disease have been found, from a single base of DNA to major chromosome reorganizations. In addition, a causal mutation was identified in 95% of the cases analyzed, which means that we are closer to cataloging all the biological pathways involved in cancer ”, he explained. In parallel, the study showed that the sequencing of the cancer genome, when combined with a set of analysis tools, allows “to characterize each genetic change found in a cancer and all the processes that originated these mutations and even the order of the main events during its life cycle”.
To Lusa, Nuno Fonseca said that the results obtained under this project will “facilitate and accelerate new discoveries related to the detection and treatment of cancer”. “In addition to the data made available, the new computer programs and infrastructures developed to process and analyze genomic data, including tools to exploit the data produced, should be very useful in the coming years, in particular, as new samples are collected and sequenced in around the world, ”he said.
The researcher added that “this work should benefit patients in the medium and long term vision, and more work is needed to transform what has been learned into solutions with immediate impact for patients”.
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