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DNA tumour study unearths new clues about the genetic causes of cancer ©Getty Images
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DNA tumour study unearths new clues about cancer-causing genetic mutations

Published: 21st April, 2022 at 18:00
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Biggest-of-its-kind study involved analysis from the whole-genome sequences of more than 12,000 NHS cancer patients.

A DNA analysis of thousands of tumours taken from NHS patients has shed new light on the genetic causes of cancer and could lead to new targets for treatment.


A team of researchers based at Cambridge University Hospitals and the University of Cambridge analysed the whole-genome sequences of more than 12,000 NHS cancer patients, studying the history of genetic mutations in each patient as the illness progressed.

Thanks to the vast size of the data set they had to work with, the team were able to detect tell-tale patterns, or mutational signatures, in the DNA of each specific tumour that could provide clues to the patients’ past exposure to various environmental causes of cancer such as smoking or UV light.

They were also able to pin down 58 new mutational signatures that offer avenues to further study factors that contribute to the occurrence of cancer, which could help to diagnose and treat patients more effectively.

“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 study leader Serena Nik-Zainal, a professor of genomic medicine and bioinformatics at the University of Cambridge.

"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."

The genome data set was provided by the 100,000 Genomes Project, an England-wide clinical research initiative that has sequenced 100,000 whole genomes from more than 85,000 patients affected by rare diseases or cancer.

“Whole-genome sequencing gives us a total picture of all the mutations that have contributed to each person’s cancer,” said the study’s first author Dr Andrea Degasperi, research associate at the University of Cambridge. “With thousands of mutations per cancer, we have unprecedented power to look for commonalities and differences across NHS patients.”

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Jason Goodyer
Jason GoodyerCommissioning editor, BBC Science Focus

Jason is the commissioning editor for BBC Science Focus. He holds an MSc in physics and was named Section Editor of the Year by the British Society of Magazine Editors in 2019. He has been reporting on science and technology for more than a decade. During this time, he's walked the tunnels of the Large Hadron Collider, watched Stephen Hawking deliver his Reith Lecture on Black Holes and reported on everything from simulation universes to dancing cockatoos. He looks after the magazine’s and website’s news sections and makes regular appearances on the Science Focus Podcast.


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