Serena Nik-Zainal is an expert British geneticist, specialized in the millions of mutations that are derived from cancer in the human body and who in recent days made a new discovery in relation to the reasons that can lead to this disease.
A study by Cambridge University Hospitals (CUH) and the University of Cambridge, in which Nik-Zainal participated as director, focused on the analysis of the complete genome sequence of more than 12,000 cancer patients who are part of the United Kingdom’s National Health Service (NHS).
As Andrea Degasperi, lead author of the research, explained, “several new patterns of mutations, which we call ‘mutational signatures’, were found in the genetic makeup of the patients. We believe that each of these new and old signatures has a different cause, which we call the mutational process.”
These findings are directly related to the research of the famous biophysicist Douglas Hanahan, who through the third update of his study Hallmarks of Cancerrelated to the most important and basic details of this disease, has explained how finding the roots of cancer can be a complex task, taking into account the different types of mutational signatures that can be unleashed in this disease.
Among his analyses, Hanahan has shown how the tumor cell manages to cling to its host through a direct relationship with its environment, in addition to the importance of epigenetics as a method to find explanations for cancer in DNA, although on very small scales.
the findings
The Cambridge research, which was recently published in the journal Scienceis an important step in finding the roots of cancer, as it not only confirmed already known mutational signatures, but also identified another 58 that shed light on the fact that cancer is even more complex than previously believed with causes that are not yet known. they fully understand.
“Whole genome sequencing gives us a total picture of all the mutations that have contributed to each person’s cancer. With thousands of mutations, we have unprecedented power to search for commonalities and differences between NHS patients, and in doing so we discovered these 58 new mutational signatures and furthered our understanding of cancer.Degasperi explained.
Even so, scientists have found in the questions new and exciting challenges that promise not only to help understand cancer as a disease, but to find the specific type of cancer or mutational signature within a person who has it.
“While in the past it was assumed that each mutational signature had the same probability of appearing in a tumor, we have shown that there is a clear distinction between common signatures and rare signatures (…) This translates into better patient stratification and personalized care. We believe we are at the beginning of an exciting journey”, added the researcher.
In this way, this study also makes it possible to make the search for mutational signatures much less strenuous in newly diagnosed patients and to strengthen the way in which these signatures are understood in relation to the specific treatments that might help counteract them in the human body.
As experts recall, a “normal” tumor almost always presents multiple common signatures within the genome of a person with cancer; Nevertheless, only between 5% and 15% of the cases present rare signatures that, if they can be analyzed much more deeply, end up yielding a single result.
“And these signatures are also dependent on the type of tumor, which means that there are differences according to the organ of origin of the tumor,” added Degasperi.
