Although we know that there are factors and behaviors that can prevent or motivate the appearance of cancers, the truth is that it is not always linear. A new study has analyzed the DNA of human cancers and the results offer some clues as to their causes.
In addition, they made known some points that may have implications at the time of treatment.
A team of British researchers – made up of scientists from Cambridge University Hospitals and the University of Cambridge – analyzed the genetic makeup of 12,000 tumors from National Health Service patients and discovered 58 new mutations. Although we know behaviors that can prevent or promote the appearance of cancer, these have allowed scientists to know clues about the potential causes of cancer.
For this study, which is the largest of its kind and analyzed a large amount of information, the team used data from the 100,000 Genomes Project, a British initiative to sequence the entire genome of cancer patients. and rare diseases.
As revealed by Serena Nik-Zainal, the team’s senior professor, the study detected patterns in the genetic alterations, or “mutational signatures”, found in the tumors.
The reason it is important to identify mutational signatures is that they are like fingerprints at a crime scene: they help identify the culprits of cancer.
The professor explained, adding that some of these signatures attributed causes such as smoking or UV light to cancer.
Serena Nik-Zainal, lead professor of the British research team
By comparing the results with other studies done previously, they confirmed that 58 of these signatures were previously unknown. Of these, they noted that some are quite common, while others are rare. Once the mutational signatures of the cancers analyzed were identified, the researchers understood the potential causes, but also identified the elements that could have implications for treatment.
Mutational signatures are an example of using the full potential of whole genome sequencing. We hope to use the mutational signatures observed in this study and apply them to our patient population, with the ultimate goal of improving the diagnosis and management of cancer patients.
said Matt Brown, Professor and Scientific Director of Genomics England.
The study was published in Science.
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