Prof. Nick-Zainal added that the study was a “really important step forward” in using genomics as a standardized test for the future, saying it was expected to become widespread in the next five to 10 years.
She said: “The reason why it is important to identify mutational signatures is that they are like fingerprints at the crime scene. They help identify the culprits of cancer.
“It’s like watching a very busy beach with thousands of footprints in the sand. To the untrained eye, the prints seem random and meaningless.
“But if you can study them closely, you can learn a lot about what’s going on, to distinguish between animal and human fingerprints, how old the fingerprints are, whether it’s an adult or a child, or where they’re going. ”
She added: “It’s the same with mutation signatures. The use of whole-genome sequencing can identify which “footprints” are appropriate and important and reveal what happened through the development of cancer.
“Ultimate goal” to improve the diagnosis of cancer
The genomic data was provided by the 100,000 Genome Project, a clinical research initiative in England to sequence 100,000 entire genomes from some 85,000 patients affected by rare diseases or cancer.
Michelle Mitchell, CEO of Cancer Research UK, said: “This study shows how powerful whole-genome sequencing tests can be to provide clues as to how cancer may have developed, how it will behave and what the possibilities are. for treatment would work best.
Professor Matt Brown, Chief Research Officer of Genomics England, said: “Mutational signatures are an example of exploiting the full potential of whole genome sequencing. We hope to use the mutational evidence observed in this study and apply it back to our patient population, with the ultimate goal of improving the diagnosis and management of cancer patients.
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