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Biggest ever study of whole genome sequencing finds ‘treasure trove’ of clues

By April 29, 2022No Comments

In the largest ever study of its kind, Cambridge-based scientists have discovered 58 new mutational signatures in the DNA of cancer patients, which suggests that there are causes of cancer which are not yet understood. The landmark study consisted of 12,000 NHS cancer patients.

The study provides incredible insight into the extent of damage caused to the DNA of each patient suffering with cancer and the subsequent repair processes in their bodies. Through this, researchers were able to see whether there were environmental reasons for the patients’ cancer, such as smoking or exposure to excessive sunlight.

These new, mysterious mutational signatures are, of course, the most interesting development. It is hoped that since they have been discovered, scientists can now better understand the causes of certain types of cancer, which will impact the prevention and treatment of the disease in the future.
The genomic data was provided by the 100,000 Genomes Project, which aims to sequence 100,000 whole genomes from patients across England suffering from rare diseases or cancer, and was supported by Cancer Research UK.

Dr Andrea Degasperi, Research Associate at the University of Cambridge, said: “WGS gives us a total picture of all the mutations that have contributed to each person’s cancer. With thousands of mutations per cancer, we have unprecedented power to look for commonalities and differences across NHS patients, and in doing so we uncovered 58 new mutational signatures and broadened our knowledge of cancer”.

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