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Cancer mutations mapped in major study

pharmafile | August 21, 2013 | News story | Research and Development, Sales and Marketing |ย ย CRUK, Cancer, Wellcome Trust, cancer mappingย 

Researchers have identified the unique cell mutations behind 30 of the most common types of cancer, paving the way for further insight into the disease and its causes.

An international team of scientists, led by the UKโ€™s Wellcome Trust Sanger Institute, analysed over 7,000 tumours, searching for the signature DNA imprint left behind by cancer-causing mutations.

They found that 21 different imprints underlie nearly all (97%) of the 30 most common types of the disease.

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Sanger Institute director Sir Mike Stratton described the findings as โ€˜a significant achievement for cancer researchโ€™ and โ€˜a major milestoneโ€™.

He told the BBC: โ€œI’m very excited. Hidden within the cancer genome are these patterns, these signatures, which tell us what is actually causing cancer in the first place – that’s a major insight to have.โ€

Cancer cells start to develop when normal cells malfunction and replicate uncontrollably. This erratic behaviour is caused by mutations picked up by the body over the course of its lifetime.

Tobacco smoke and UV light are commonly known environmental causes of these mutations, leading to growths such as lung and skin cancer, respectively.

The study linked other mutation imprints to ageing and defects in the bodyโ€™s natural processes of DNA maintenance.

However, the authors were unable to explain 12 of the 21 mutations identified, reflecting a lack of knowledge in the wider scientific community about the root causes of most cancers.

It is hoped that, based on this research, further studies will be able to shed light on these mysterious biological processes โ€“ and allow scientists to pin-point specific environmental or genetic triggers.

All of the tumours studied displayed two or more types of mutation, illustrating the complicated nature of cancer development. Some growths involved considerably more, such as liver cancer which is driven by six distinct mutational processes.

Researchers also identified a relationship between a group of enzymes known as APOBECs and more than half of the tumours analysed in the study.

These enzymes are released to fight viral infections but may cause โ€˜collateral damageโ€™ to the cells they are meant to protect by altering their DNA, and increasing their likelihood of developing into cancer cells.

Cancer Research UKโ€™s chief scientist Nic Jones said: โ€œThe genetic fingerprints identified in this fascinating and important study identify several new processes driving the development of cancer.โ€

He added: โ€œUnderstanding whatโ€™s causing them could be an extremely important way to get the bottom of how cancer develops in the first place – and this will lead to new ways to prevent and treat the disease.โ€

Hugh McCafferty

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