Researchers have identified dozens of new mutations associated with cancer, which could provide new clues about its various causes and help doctors find better treatments.
A team of English researchers from the University and Cambridge University Hospital have just completed a series of papers that could quickly play a major role in cancer research. By examining the genomes of a large number of tumors, they were able to identify recurring patterns that could point to the genetic, but also environmental, causes of this disease.
This is arguably the densest study ever done on this subject. In its April 21 release, the team documented the genomic analysis of approx 12,000 different tumors. They were examined using new analytical tools developed especially for the occasion.
And these analyzes have yielded more than convincing results. The data allowed them to identify 58 new characteristic mutations which hide crucial information about the causes of the disease.
Cancer, a mistake in the cellular machinery
This is important, because in essence, cancer is the result of a dysfunction of our cellular machinery. Normally, almost every cell in our body replicates during its life cycle. This allows the tissues to be permanently renewed with new, healthy cells.
But regularly, the machinery that allows cell replication encounters some problems. If the genome of the cell is poorly copied for one reason or another, we end up with a mutation in the genetic material of that cell. It is something completely natural and that happens constantly, every minute, in our body; each cell has hundreds, if not more, of mutations.
This is usually not a problem. Cellular machinery has several countermeasures that can repair DNA and prevent the proliferation of cells that have critical mutations. But sometimes some of these mutations can lead to a completely anarchic cell multiplication; then we talk about a tumor.
A window on the origins of the disease
Therefore, it is essential to be able to identify these mutations. Because once you know them, you can track them down, like a police detective looking for fingerprints. “These fingerprints are not random”Insists Serena Nik-Zainal, Cambridge Bioinformatics. “They happen for a very specific reason. As with footprints, we can distinguish a human from an animal, a dog from a bird, an adult from a child, or even their speed of movement.“, explain.
Clinicians therefore dream of having a catalog of all these mutations at their disposal; such a collection would be a leading weapon in fundamental research, but also for improve clinical management. And according to Dávid Szüts, a researcher at the Natural Science Research Center in Budapest, this is almost the case. “At this point, it seems unlikely that we have missed any of the major processes at stake.“, explain.
But it’s not impossible, and researchers know a lot about it. From now on, they intend to start exploring other types of mutations to see if another vein has been lost. In short, they hope that these elements will further refine our understanding of the mechanisms of cancer in order to develop tailor-made treatments for each individual.
These works are not enough to provide a user manual to eradicate this scourge. But in today’s context, where we regularly see new leads related to AI, state-of-the-art robotic approaches, or the development of next-generation diagnostic solutions, there are reasons to be excited.