Ian Tomlinson, Professor of Molecular and Population Genetics at the Wellcome Trust for Human Genetics, works on the identification of genes that predispose to colorectal and other cancers. His research focuses on the relative importance of selection and genomic instability.
Identifying genes that increase the risk of bowel or other cancers allows us to offer preventative measures, such as removing tumours at an early stage. A better understanding of how and why cancers grow also helps develop improved treatments.
Ultimately, medical research must translate into improved treatments for patients. At the Nuffield Department of Medicine, our researchers collaborate to develop better health care, improved quality of life, and enhanced preventative measures for all patients. Our findings in the laboratory are translated into changes in clinical practice, from bench to bedside.
Q: What is the contribution of genetics to colorectal cancer?
Ian Tomlinson: Cancers grow in two ways owing to genetics; the first of those is that particular genes may put certain people at higher risk of colon cancer, as indeed other cancer types. Secondly, cancers principally develop because of genetic changes that they acquire as they come from a normal piece of tissue all the way through to benign lesions, or polyps in our case, through to a fully blown aggressive cancer. Those particular changes are what drive cancer growth.
Q: How does your research help reduce the burden of colorectal cancers?
IT: A lot of our research focuses on identifying genes that increase colon cancer risk. If we can do that, as we have done in the past, then the people who are at increased risk can have special measures to prevent colon cancer such as colonoscopy - an examination using a telescope of the large bowel – and by doing that we can remove tumours either before they become malignant or at the early stage of malignancy, therefore saving people lives.
Q: How is this information used in the clinic?
IT: We see people in the cancer genetics clinic, either who have referred themselves because they are concerned about their own history of cancer or their family history, or where a GP or surgeon has referred them. We evaluate the family history and do genetic testing on selected people to see if they have a high risk cancer gene and then we recommend measures to prevent cancer as far as we possibly can in those who are at increased risk.
Q: What are some of the most important lines of research to develop in the last five to ten years?
IT: The ability to identify cancerous genes has increased because technologies have allowed us to study large numbers of people and we have identified not only additional high risk genes but also genes that are present in the general population that will either reduce or increase your bowel cancer risk. Increasingly, we can look at the cancers themselves because they have genetic changes that cause them to grow and we can use those to classify cancers and also to suggest treatments that in some cases that may improve the management of those people.
Q: Why does your research matter and why should we put money into it?
IT: Ultimately cancer is best dealt with by prevention and we know that we have identified some of the genes that predispose to bowel cancer, but if we can get closer to a complete picture, we can better target the screening based on that genetics and other factors such as lifestyle. Our research also deals with gaining a better understanding of how cancers grow and why. I strongly believe that our treatments for cancer and the management of cancer patients must be informed by that basic understanding of how cancers develop.
Q: How does your research fit into translational medicine within the Department?IT: By its very nature, because we are working on identifying cancer genes, there is almost always a translational component. We have already identified five or six cancer genes that are now tested worldwide, and helped those patients who have inherited those genes to prevent them from developing cancer.