Cancer breakthrough: Scientists find clues that raise hopes about better treatments

Analysis of thousands of tumours from NHS patients has identified a “treasure trove” of new clues about the causes of cancer.

In the biggest study of its kind, researchers at Cambridge University Hospitals looked at the genomes of more than 12,000 people with cancer in England.  They spotted 58 new patterns in their DNA called mutational signatures, suggesting there are causes that scientists are not yet aware of.

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The researchers hope the discovery will allow future studies to work out the roots of these cancer-causing mutations.

Scientists were aware of just 51 mutational signatures before the new finding, including changes caused by smoking or UV light.

Identifying these signatures also allows doctors to look at each patient’s tumour and match it to specific treatments and medications.

However, the patterns can only be detected in cancer patients who have had their whole genomes sequenced by scientists – which isn’t routinely done.

Professor Serena Nik-Zainal, a genomic expert who led the study, said the patterns were like “fingerprints at a crime scene”.

She said the findings could indicate an “Achilles heel” in individual cancers that could be targeted with treatment.

Cancer is caused by mutations in the genome of cells which causes the cells to multiply out of control until they form a tumour.

The latest study, published in the journal, Science, analysed the whole genome of 12,222 NHS cancer patients as part of the 100,000 Genomes Project in England.

Genome sequencing looks at all of the thousands of DNA building blocks within each tumour, showing the mutations that contribute to each person’s cancer.

Some of the new mutational patterns observed were present across many different cancer patients, while some were rare.

Cancers are thought to have a finite amount of mutational processes, fuelling the search to identify them all and what causes them.

Knowing the signatures are present within a tumour helps to figure out the root cause of them and point towards whether the mutation was caused by environmental factors or a genetic problem.

Professor Nik-Zainal told MailOnlinethat, “I sometimes use the analogy of footprints in sand where the mutational signatures are the footprints.

“When you look across a beach, there could be footprints everywhere (analogous to cancer, mutations look a bit random, they are everywhere).

“But if you study the footprints in detail, there are characteristics that tell you whether the footprints are an animal or a human.”

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 might have developed; how it will behave and what treatment options would work best.”

Professor Matt Brown, chief scientific officer of Genomics England, said applying the mutational clues to patients “could improve the diagnosis and management of cancer patients.”

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