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Evidence of new causes of cancer uncovered as genomic data of 12,000 NHS patients is studied by University of Cambridge researchers

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Analysis of the complete genetic make-up of more than 12,000 NHS patients with cancer has yielded an array of clues about the causes of cancer and suggested some new avenues not yet explored.

The team of scientists, led by Professor Serena Nik-Zainal, from Cambridge University Hospitals (CUH) and the University of Cambridge, analysed whole-genome sequences (WGS) from the patients to detect ‘mutational signatures’.

Dr Serena Nik-Zainal, left. Picture: Keith Heppell
Dr Serena Nik-Zainal, left. Picture: Keith Heppell

These patterns in the DNA of cancer provide evidence of whether a patient has previously been exposed to environmental causes of cancer, such as smoking or UV light, or has cellular malfunctions.

They found 58 mutational signatures not seen before, which indicates there may be additional causes of cancer that we do not yet understand.

“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,” said Prof Nik-Zainal, from the Department of Medical Genetics and an honorary consultant in clinical genetics at CUH.

“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.”

The study was the largest yet of its kind and used genomic data provided by the 100,000 Genomes Project. This nationwide clinical research initiative aims to sequence 100,000 whole genomes - the entire genetic code - of about 85,000 patients with a rare disease or cancer.

“WGS gives us a total picture of all the mutations that have contributed to each person’s cancer,” said first author Dr Andrea Degasperi, from Cambridge’s Department of Oncology. “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.”

After the findings were reported in the journal Science, Michelle Mitchell, chief executive of Cancer Research UK, which funded the research, 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.”

Dr Serena Nik-Zainal. Picture: Keith Heppell
Dr Serena Nik-Zainal. Picture: Keith Heppell

Prof 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.”

Prof Dame Sue Hill, chief scientific officer for England and senior responsible officer for genomics in the NHS, added: “The NHS contribution to the 100,000 Genomes Project was vital to this research and highlights how data can transform the care we deliver to patients, which is a cornerstone of the NHS Genomic Medicine Service.”

Prof Nik-Zainal won the 2021 Foulkes Foundation Academy of Medical Sciences Medal for her work on identifying the ‘fingerprints’ of tumours, which is designed to aid the drive to more personalised, effective treatment for cancer patients.

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