‘Mindblowing’ gene discovery brings tailor-made cancer treatment a step closer

·4-min read
Cancer gene - Steve Gschmeissner/Science Photo Library RF
Cancer gene - Steve Gschmeissner/Science Photo Library RF

Cancer treatment is set to be revolutionised by a “mindblowing” gene study by the University of Cambridge, which has found 58 new mutational signatures, experts said.

The findings, from the largest study of its kind, will allow medics to provide more personalised treatment, matched to individual tumours.

Until now, scientists have been able to identify 72 mutational signatures which could cause cancer.

However, the new research, based on tumours from more than 12,000 NHS patients, has found “a treasure trove” of new clues, allowing medics to develop a new tool to help match treatments to patients.

Scientists behind the study said that the new technique could be used immediately on any patient who undergoes whole-genome sequencing. Currently, this is largely offered to those with rare diseases and inherited disorders, as well as all children with cancer.

However, there are plans to roll this out much more widely, with scientists hopeful that the new findings could revolutionise cancer care in the next five to 10 years.

Scientists said that the project had been “mindblowing”, allowing them to create a new diagnostic tool which will mean doctors can receive tailored guidance about the most effective treatments for patients.

A team of scientists led by Prof Serena Nik-Zainal, from the University of Cambridge and Cambridge University Hospitals, analysed the whole-genome sequences of more than 12,000 NHS cancer patients.

Scientists said the scale of the study, and the vast amount of data provided by whole-genome sequencing, meant they could detect patterns in the DNA of cancer that had never been identified before.

This research, supported by Cancer Research UK and published in the journal Science, has allowed scientists to develop a computer-based tool, which means that any cancer patient who undergoes whole-genome sequencing can be checked for the signatures and given tailored treatment advice.

It means that they could be offered types of immunotherapy which only work on particular tumours, for example.

Currently, whole-genome sequencing is used only for patients with rare diseases, including all paediatric cancers, but it is being expanded to cover increasing numbers of patients with breast, ovarian cancers and brain tumours.

Prof Nik-Zainal said it was “mindblowing” to have been able to carry out such major research involving so many patients.

“I’m amazed. I am so proud, actually, to be a doctor and a scientist that can use this data that has been generated by the public sector; it is extraordinary,” she said.

Prof Nik-Zainal added that the research was a “really important step forward” in the use of genomics as a standardised test for the future, saying that she anticipated widespread rollout in the next five to 10 years.

She 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.

“It’s like looking at a very busy beach with thousands of footprints in the sand. To the untrained eye, the footprints appear to be random and meaningless.

“But if you are able to study them closely, you can learn a lot about what’s been going on, distinguish between animal and human prints, how old the prints are, whether it’s an adult or child, what direction they’re travelling in.”

She added: “It’s the same thing with the mutational signatures. The use of whole-genome sequencing can identify which ‘footprints’ are relevant and important and reveal what’s happened through the development of the cancer.”

‘Ultimate aim’ of improving cancer diagnosis

The genomic data were provided by the 100,000 Genomes Project, an England-wide clinical research initiative to sequence 100,000 whole genomes from about 85,000 patients affected by rare diseases or cancer.

Michelle Mitchell, the 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.”

Prof Matt Brown, the chief scientific officer of Genomics England, said: “Mutational signatures are an example of using the full potential of whole-genome sequencing. 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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