Genes and bowel cancer
Professor Ian Tomlinson is Head of the Population and Functional Genetics Lab at the Wellcome Trust Centre for Human Genetics in Oxford. His main research interest is cancer genetics, focusing particularly on the genes involved in bowel cancer.
Searching for bowel cancer genes
Professor Tomlinson's team is searching for natural variations in our genes that make people more likely to develop bowel cancer. They are also interested in how these gene variants act together with environmental factors to affect our risk of this disease.
In collaboration with the Cancer Research UK Colorectal Cancer Unit at St Mark's Hospital, Professor Tomlinson is carrying out the 'Colorectal tumour gene identification study' known as CORGI. They are collecting DNA samples from hundreds of families with a history of bowel cancer from all over the UK.
Professor Tomlinson is using these samples to identify faulty genes in these families. He will then look for the same genetic variations in the general population to see if they influence bowel cancer risk. The team have already discovered five common gene variants that can significantly increase a person's risk of bowel cancer.
This type of information could be used to regularly screen people at high risk of cancer. It may also help doctors choose the best treatment for each individual with bowel cancer according to the variations they carry.
Inherited bowel cancer
Professor Tomlinson is also studying people with the inherited syndrome 'Familial Adenomatous Polyposis' (FAP), which makes them more likely to develop bowel cancer. People with FAP inherit a faulty version of a gene called APC from one of their parents.
Using DNA taken from the tumours of FAP patients, the researchers are studying the APC gene to find out how bowel cancer develops in people with this syndrome. This work may also increase our understanding of how bowel cancer develops in sporadic cases of the disease in which mutations accumulate over the course of a lifetime instead of being inherited.
Professor Tomlinson’s research is part of Cancer Research UK’s Genomics Initiative – a set of groundbreaking projects that are using the latest high-tech gene sequencing machines to track down the genetic faults driving different types of cancer. These projects will bring us a step closer to more personalised cancer treatment – making sure patients receive the treatments that will work best for them.
Other research projects by Ian Tomlinson
Funding period: 01 October 2008 to 30 September 2013
Funding period: 01 January 2011 to 31 December 2013
Common variants at 19p13 are associated with susceptibility to ovarian cancer
Nat Genet.2010;42 :880-884
Location in the large bowel influences the APC mutations observed in FAP adenomas
Fam Cancer.2010;9 :389-393