Can cancer be defeated? More research on its genome gives hope


Biology doctor José Tubío is one of 1,000 researchers who participated in the largest study on cancer genomics that involved the analysis of 2,658 cancer samples from 38 types of tumors. Its results will allow us to understand the mutation mechanisms of cancer cells to design therapies adapted to each patient.

During the last two decades the scientific community has realized that the cancer is fundamentally a genome disease, promoted by the gradual accumulation of mutations in the cells. This was the reason why we wanted to carry out the largest study on cancer genetics whose results were published in the journal Nature.

“This is an investigation that emerged seven years ago and was an initiative of the Pan-Cancer Consortium to catalog all the genetic mutations that affect almost 3,000 patients with 38 different types of cancer. It required the joint work of some 1,300 researchers from 14 countries.” , said biology doctor José Tubío, who led one of the project groups.

His team worked in the field known as “structural variants of the tumor genome”, that is, large losses or restructuring in certain regions of the DNA. In particular, they studied a type of structural variation that occurs due to retrotransposons, better known as “jumping genes” for their ability to change their location within the genome.
“We have discovered that these retrotransposons (which represent 35% of our genetic material) in certain types of tumors – specifically in oral, esophageal, lung and colorectal cancers – are mobilized very actively. When they do they generate a series of rearrangements. within the genome that in turn cause large losses of genetic material, “added the Spanish researcher.

It can be lost up to half a complete chromosome and this often leads to losses of genes that are very important for proper cell functioning, such as tumor suppressor genes that allow cancer to not develop.
“To be able to give a treatment to a person you have to know the mutations that have that tumor. This new mechanism that we have discovered will allow us to identify mutations that until now were not known. Thanks to this we will be able to give appropriate treatments to stop the tumor cell. We have contributed a grain of sand in the fight against cancer, “concluded Tubio.

Another of the great findings of Pan-Cancer project, carried out by other researchers, was the development of a statistical method that allows dating mutations, that is, knowing exactly when they occurred. This allowed us to discover that the genetic mutations that give rise to a tumor often appear decades before diagnosis.


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