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Cancer Research Uncovers ‘Biggest Discovery Of Its Kind’

Note: This article may contain commentary or the author's opinion.

Scientists in England have discovered a ‘treasure trove’ of information which indicate previously unknown causes for cancer. The research could be used to prevent the disease’s occurrence.

In a discovery hailed the ‘biggest of its kind, researchers from Cambridge University, England uncovered “mutational signals” in the DNA of a selection of cancer patients.

The study involved researchers examining 12 thousand cancerous tumors, and the outcome for the research could help doctors with treatment and with prevention.

While lifestyle choices like smoking or using tanning beds have been well-known to contribute to an individual’s likelihood of developing cancer, the new research has led scientists to unearth a further 58 new mutational signatures which have developed due to causes we are yet to understand.

Understanding the causes and triggers of the tumors will also allow doctors to provide more effective treatment options.

“Whole genome sequencing gives us a total picture of all the mutations that have contributed to each person’s cancer,” said Dr Andrea Degasperi, a research associate at Cambridge University.


With thousands of mutations per cancer, we have unprecedented power to look for commonalities and differences across NHS [National Health Service] patients, and in doing so we uncovered 58 new mutational signatures and broadened our knowledge of cancer.”

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The DNA sequences which led to the discovery of the new data are not routinely analysed by cancer researchers, as the detailed research requires the patient’s entire genome line to be studied.

The unprecedented study was undertaken as part of the 100,000 Genomes Project in England and enabled scientists to intricately assess thousands of DNA building blocks which lead to the development of cell mutations.

When specific types of genome cell mutations occur, cells multiply unnaturally fast, causing the formation of a tumor.



“I sometimes use the analogy of footprints in sand where the mutational signatures are the footprints,” explained professor Nik-Zainal to the Mail Online.

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.

“Mutational signatures are like those footprints. We can start to figure out whether something is due to external or cellular factors by studying the mutation patterns in detail.”

The groundbreaking research will be used to develop a computer algorithm called Signature Fit Multi-Step (FitMS), which will be used to sieve through the DNA of cancer patients who have had their genomes sequenced to match them up with treatment options and medications specifically tailored to their genetic cancer type.

Researchers say they hope their discoveries will lead to finding further “Achilles Heels” in cancers:

“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,” explained professor Nik-Zainal.

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.”