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Genetic mutation of cells charted

17 August 2013 12:53

DNA mutations have been categorised in what is a significant step forward in scientific understanding of cancer

DNA mutations have been categorised in what is a significant step forward in scientific understanding of cancer

Many of the major genetic mutations which cause cancer have been categorised by scientists in what they say constitutes a significant advance in their understanding of the disease.

A lot of work remains to be done however - a major unanswered question is what causes the mutations in many cancers - although some causes are already relatively well understood such as smoking, radiation and UV rays.

A tumour arises from a malfunction in a cell which, over a person's lifetime, is subject to a variety of mutations.

Some of these mutations can transform themselves into deadly cancerous tumours which may then replicate uncontrollably.

The study, said to be largest investigation into cancer genomes to date and described by Cancer Research UK as fascinating and important, is ultimately searching for the causes of the cell mutations. Those who take out cancer travel insurance are also likely to find the research interesting.

Each mutation leaves behind its own unique hallmark that shows what has caused it to take place, dubbed "genetic graffiti". The researchers looked at around 7,000 samples and identified 21 separate hallmarks which, they say, might account for 97% of the 30 most common forms of cancer.

Prof Sir Mike Stratton, director of the Wellcome Trust Sanger Institute which is leading the study, told the BBC: "I'm very excited. Hidden within the cancer genome are these patterns, these signatures, which tell us what is actually causing the cancer in the first place. That's a major insight to have. It is quite a significant achievement for cancer research.

"This is quite profound; it's taking us into areas of unknown that we didn't know existed before. I think this is a major milestone."

Other graffiti items were found to relate to the immune system and the body's process of ageing. When a viral infection appears in the body, cells put to work a set of enzymes which force the virus to mutate to the point that it can no longer survive.

Prof Stratton added: "We believe that when it does that, there is collateral damage. It mutates its own genome as well and now becomes much more likely to become a cancer cell as it has a huge number of mutations. It's a double-edged sword."

The findings of the work are reported in the Nature journal.