Researchers have identified dozens of new mutations associated with cancer, which might offer new clues to its diverse causes and help clinicians come up with better treatments.
A team of English researchers from the University and the University Hospital of Cambridge has just concluded a series of works that might quickly weigh heavily in cancer research. By sifting through the genomes of a large number of tumors, they managed to identify recurring patterns that might point to the genetic, but also environmental causes of this disease.
This is unquestionably the densest study ever conducted on this issue. In its April 21 publication, the team documented the genomic analysis of approximately 12,000 different tumors. They were scrutinized using new analytical tools specially developed for the occasion.
And these analyzes have produced more than convincing results. The data allowed them to identify 58 new characteristic mutations that hide crucial information regarding the causes of the disease.
Cancer, a bug in the cellular machinery
This is important, because in essence, cancer is the result of a dysfunction of our cellular machinery. Normally, almost all of the cells in our body replicate during their life cycle. This allows the tissues to be permanently renewed with new and healthy cells.
But regularly, the machinery that allows the replication of cells encounters some problems. If the genome of the cell is badly copied for one reason or another, then we end up with a mutation in the genetic material of this cell. It is something that is completely natural and that happens constantly, every minute, in our body; every cell has hundreds of mutations, if not more.
Normally, this is not a problem. The 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 multiplication of cells; we then speak of a tumour.
A window on the origins of the disease
It is therefore essential to be able to identify these mutations. Because once you know them, you can track them, much like a police detective looking for fingerprints. “These fingerprints are not random”, insists Serena Nik-Zainal, a bioinformatician from Cambridge. “They happen for a very specific reason. A bit like 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.”, she explains.
Clinicians therefore dream of having at their disposal a catalog of all these mutations; such a collection would constitute a leading weapon in fundamental research, but also for improve clinical management. And according to Dávid Szüts, a researcher at the Center for Natural Science Research in Budapest, this is now almost the case. “At this point, it seems unlikely that we’ve missed any of the major processes at play.”, he explains.
But it is not impossible, and the researchers are well aware of it. From now on, they intend to start exploring other types of mutations to see if they have not missed another vein. Ultimately, they hope that these elements will make it possible to 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 propose a manual to eradicate this scourge. But in the current context, where we regularly see new leads related to AI, robotic approaches state-of-the-art or the development of diagnostic solutions of the latest generation, there is much to be enthusiastic regarding.