A team of UK researchers has discovered a ‘treasury’ of 58 new mutational signatures that provide clues about the causes of cancer.
In the largest study of its kind, a team of scientists led by Professor Serena Nick-Zanal from Cambridge University Hospitals (CUH) and the University of Cambridge analyzed the entire genetic makeup, or whole-genome sequences, of more than 12,000 NHS cancer patients. ,
The researchers were able to detect patterns — or mutational signatures — in the cancer’s DNA that provide clues about whether the patient has had past exposure to environmental causes of the cancer, such as smoking or UV light, or has intrinsic or cellular malfunction. .
In the study, published in the journal Science, the team was also able to find 58 new mutational signatures, suggesting that cancer has additional causes that we do not yet fully understand.
“Whole genome sequencing gives us a total picture of all the mutations that have contributed to each individual’s cancer. With thousands of mutations per cancer, we have unprecedented power to see similarities and differences in NHS patients, and in doing so we have found 58 uncovered new mutational signatures and broadened our knowledge of cancer,” said first author Dr Andrea Degaspari, research associate. Cambridge University.
The team also created FitMS, a computer-based tool to help scientists and clinicians identify old and new mutational signatures in cancer patients to potentially more effectively inform cancer management.
Previously, scientists only knew about 51 mutational signatures, including those caused by smoking or UV light.
Identifying the new signatures will allow doctors to see each patient’s tumor and match it to specific treatments and drugs.
However, the pattern can only be detected in cancer patients who have had their entire genomes sequenced by scientists, which is not routinely done, the researchers said.
According to Serena Nick-Zainal, professor of genomic medicine and bioinformatics at the university, the mutational signatures are “like fingerprints at the crime site.”
Nick-Zanel said, “Some mutational signatures have clinical or treatment implications – they can highlight abnormalities that can be targeted with specific drugs or indicate a potential ‘Achilles heel’ in individual cancers.” Maybe.”
Meanwhile, in a separate study, researchers from the University of Alberta in Canada showed that cancer is not as genetic or purely genetic as was once thought.
Cancer is genetic, but often the mutation itself is not enough. As cancer develops and spreads in the body, it creates its environment and introduces certain metabolites. It becomes a self-fueling disease. And that’s where cancer, as a metabolic disorder, becomes really important, the team explained in the journal Metabolites.