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Scientists Shed Light On Bowel Cancer Link



Friday April 24 2009


European scientists have found a genetic variant which they believe can promote the development of bowel cancer, the second most common cause of cancer death in the UK.


The finding, which is being published online tomorrow (April 24, 2009) in the journal Genome Research, sheds new light on how bowel cancer develops and could lead to new treatments being designed.


The study has been led by scientists at The Institute of Cancer Research (ICR) in London and partly funded by Cancer Research UK. The ICR scientists had previously found common genetic variants associated with bowel cancer, but have gone one step further by showing how a precise DNA sequence could cause biological changes that ultimately lead to cancer.


Lead author Dr Alan Pittman says:

“Scientists had already found many genetic variants that give people a higher risk of bowel cancer, but we didn’t know how they might be driving cancer development.


“This is the first time we’ve provided evidence of how a common genetic variant may promote bowel cancer.


“Understanding cancer development in such detail will help in the search for new drugs, as any steps identified in the cancer process are potential places to intervene with treatments.”


The ICR scientists sequenced the DNA of bowel cancer patients, comparing them with healthy controls and looking for differences between them.


They homed in on the genetic variant that conferred the strongest risk of bowel cancer, hypothesising that it was therefore key to driving cancer development.

Laboratory experiments supported the scientists’ theory, showing the key genetic variant stopped the nearby SMAD7 gene turning on properly. It was already known that disrupting the SMAD7 gene promoted cancer development.


The SMAD7 gene is normally involved in cell growth and death so, by reducing the gene’s effect, the variant allows cancerous cells to grow.

Although the extra risk from having this DNA is modest, Dr Pittman says the finding is significant because a large proportion of the population have the variant as part of the genetic makeup.

Professor Richard Houlston, who oversaw the research as head of the ICR's Molecular and Population Genetics Team, says:

“Unravelling how a genetic variant promotes cancer development is an important step forward, and the key to ultimately working out the causes of cancers.”


Scientists in the UK, Spain and The Netherlands contributed to the study, which was funded by Cancer Research UK, the European Union, the Spanish Ministry of Education and Science, Junta de Andalucía, the Dutch Cancer Society and the ICR.


Media Contact: Jane Bunce on +44(0)207 153 5106


Note to editors:


About Bowel Cancer

Bowel cancer is the third most common cancer in the UK and the second greatest cause of cancer death in the UK. Each year more than 36,500 people are diagnosed with bowel cancer in the UK – 100 people each day. More than 15,000 people in the UK died from the disease in 2006.


About The ICR

The Institute of Cancer Research is Europe’s leading cancer research centre with expert scientists working on cutting edge research. In 2009, the ICR marks its centenary of world-leading research into cancer prevention, diagnosis and treatment. Scientists at the ICR have identified more cancer-related genes than any other organisation in world. These discoveries are allowing scientists to develop new cancer treatments. The ICR is a charity that relies on voluntary income. It is one of the world’s most cost-effective major cancer research organisations with more than 95p in every £ directly supporting research. For more information visit

About Cancer Research UK

• Together with its partners and supporters, Cancer Research UK's vision is to beat cancer.
• Cancer Research UK carries out world-class research to improve understanding of the disease and find out how to prevent, diagnose and treat different kinds of cancer.
• Cancer Research UK ensures that its findings are used to improve the lives of all cancer patients.
• Cancer Research UK helps people to understand cancer, the progress that is being made and the choices each person can make.
• Cancer Research UK works in partnership with others to achieve the greatest impact in the global fight against cancer.
For further information about Cancer Research UK's work or to find out how to support the charity, please call 020 7121 6699 or visit

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