A group of UK researchers discovered a treasure trove of 58 mutational signatures that could provide clues as to the causes and treatment of cancer.
The largest study of its type, a team of scientists led Professor Serena NikZainal of Cambridge University Hospitals, (CUH), and University of Cambridge analysed the complete genetic makeup of more than 12,000 NHS-cancer patients.
Researchers were able detect patterns in DNA that could indicate cancer, also known as mutational signatures. These can be used to determine if a patient has been exposed to UV light or smoking in the past or internal or cellular dysfunctions.
The study was published in Science. It also revealed 58 new mutational signatures. This suggests that there may be additional causes of cancer.
“Whole genome sequencing allows us to see the entire picture of all mutations which have contributed to each individual’s cancer. “With thousands of mutations per disease, we have unrivalled power to identify commonalities and differences among patients. We also discovered 58 new signatures of cancer, which we used to expand our knowledge of the disease,” said Dr Andrea Degasperi, a research associate at University of Cambridge.
FitMS was also developed by the team to aid in the identification of old and new mutational signatures among cancer patients.
Scientists had previously known of 51 mutational signatures. This includes changes due to UV light or smoking.
Doctors can also identify the new signatures to allow them to examine each patient’s tumor and match it with specific treatments.
The researchers stated that these patterns can only be found in cancer patients who have had their entire genome sequenced, something that isn’t done routinely.
Serena NikZainal is Professor of Genomic Medicine and Bioinformatics at the university. She says that the mutational signatures can be “like fingerprints on a crime scene.”
Nik-Zainal stated that some mutational signatures can have clinical or treatment implications. They can be used to identify abnormalities that could be targeted with particular drugs, or indicate a potential “Achilles heel” in specific cancers.
Researchers at the University of Alberta, Canada, found that cancer can be inherited or purely genetic.
While cancer is genetic, sometimes the mutation is not enough. Cancer spreads throughout the body and creates its own environment. It also introduces certain metabolites. It is a self-fuelled disease. The journal Metabolites explains that cancer is a metabolic disorder and this is where it becomes very important.