Cancer prevention breakthrough: New DNA analysis finds ‘treasure trove’ of causes

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Ultra detailed examination of thousands of tumours from NHS patients uncovered a ‘treasure trove’ of causes of cancer which could be used for treatment and prevention.

In the biggest data discovery of its kind, Cambridge University scientists have found “mutational signatures” that provide clues to why a patient had cancer in the first place.

The data, which found patterns in the DNA of cancer, provides clues to whether a patient smoked, used tanning beds, or had an internal, cellular malfunction.

While the scientists have found the 58 new mutational signatures, they believe these are additional causes of cancer we do not yet fully understand.

The data was provided by the 100,000 Genomes Project, an England-wide research initiative supported by Cancer Research UK, which examines thousands of patients affected by rare disease or cancer.

Dr Andrea Degasperi, research associate at the University of Cambridge said: “Whole genome sequencing 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.”

Professor Serena Nik-Zainal said: “The reason it is important to identify mutational signatures is because they are like fingerprints at a crime scene – they help to pinpoint cancer culprits.

“Some mutational signatures have clinical or treatment implications – they can highlight abnormalities that may be targeted with specific drugs or may indicate a potential ‘Achilles heel’ in individual cancers.

“We were able to perform a forensic analysis of over 12,000 NHS cancer genomes thanks to the generous contribution of samples from patients and clinicians throughout England.

“We have also created FitMS, a computer-based tool to help scientists and clinicians identify old and new mutational signatures in cancer patients, to potentially inform cancer management more effectively.”

Michelle Mitchell, chief executive of Cancer Research UK, said: “This study shows how powerful whole genome sequencing tests can be in giving clues into how the cancer may have developed, how it will behave and what treatment options would work best.

“It is fantastic that insight gained through the NHS 100,000 Genomes Project can potentially be used within the NHS to improve the treatment and care for people with cancer.”

Professor Matt Brown, chief scientific officer of Genomics England, said: “Mutational signatures are an example of using the full potential of WGS.

“We hope to use the mutational clues seen in this study and apply them back into our patient population, with the ultimate aim of improving diagnosis and management of cancer patients.”

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