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Project in Focus - The Genetics of Colorectal Cancer

17 Dec 2013

Colorectal cancer, more generally known as bowel cancer is the third most common cancer in both men and women, with over 2300 people diagnosed with the condition each year in Wales. On the positive side survival rates for patients with colorectal have improved dramatically in the last few decades, with over 50% of patients now surviving the disease for longer than 5 years. Research has made a significant contribution to this success but as I am sure you will agree much work still needs to be done to further improve these figures.

All colorectal cancers start off as a result of alterations known as mutations to genes within the normal cells that line the small and large intestines, which over a period of time eventually give rise to tumours. Professor Jeremy Cheadle who is based at the Institute of Cancer and Genetics in Cardiff University is with funding from Cancer Research Wales studying the impact that different mutations have on the development of colorectal cancer and response to treatment. This work is of great importance in the current era of personalised cancer medicine where drugs are rationally designed to target specific genetic defects within cancer cells. Indeed, some of the new molecular targeted therapies such as cetuximab are indicated for use in colorectal cancer.

Professor Cheadle and his team have discovered over 20 novel mutations within patient populations that seem to predispose certain individuals to colorectal cancer. Such genes may in future be used alongside existing screening programmes to pinpoint people at high risk of developing tumours therefore preventing colorectal cancer and/or improving early diagnosis. The era of personalised cancer treatment has not come without its challenges, where some patients do not respond to drugs like cetuximab as initially anticipated. To help address these issues the team are also developing complex bioinformatic platforms that will assist in the rapid identification of gene mutations that confer both drug sensitivity and resistance. This will improve the cost-effectiveness of using expensive agents through better patient targeting and also save time by avoiding unnecessary treatments for patients who are more likely to benefit from other therapies, the number of which continues to rise.

For further information on all the other projects that Cancer Research Wales fund please take a look at our series of research leaflets: https://www.crw.org.uk/our-research/download-research-leaflets/

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