Institute of Genetics and Cancer

Edinburgh scientists leading groundbreaking research to help predict bowel cancer risk

Scientists in Edinburgh are leading a groundbreaking study that could help doctors and scientists identify patients at risk of developing bowel cancer and find new treatments for the disease: April 2018

Professor Malcolm Dunlop

Professor Malcolm Dunlop and his team from the Cancer Research UK Edinburgh Centre and the MRC Human Genetics Unit is leading the SCOTTY study (Sequencing of COlon Trios in The Young). Funded by Cancer Research UK, the research group is studying the genetic make-up of patients who have been diagnosed with bowel cancer at a very young age.

The scientists are searching for mutations in the DNA of young bowel cancer patients, to enable them to define more of the underlying genetic causes of the disease.

Around 3,800 people are diagnosed with bowel cancer in Scotland every year, and every year around 1,600 people in Scotland die from the disease. Whilst modern surgery, radiotherapy and chemotherapy treatments have improved survival, many patients still die from bowel cancer. So it is vital for scientists and doctors to increase their understanding of what causes the disease, to be able to intervene as early as possible.

The SCOTTY study is looking at patients who have been diagnosed with bowel cancer at a young age. Bowel cancer in young people is rare, with less than 1.2 per cent of patients aged under 40 years old.

Professor Dunlop and his team have observed that bowel cancer patients within this age group are more likely to have mutations in their DNA that increase their risk of developing the disease.

While a number of genes involved in bowel cancer have been identified over the last 20 years, Professor Dunlop says there is much more to discover about the genetics of the disease.

As part of the SCOTTY study, he and his team are taking blood and tumour samples from young patients with no family history of bowel cancer, and using a sophisticated scientific technique called ‘next generation sequencing’ to give a read-out of all the genetic information in the patients’ DNA.

They are also taking blood samples from the parents of these patients, and using the same technique to give a read-out of their DNA.

So far, almost 70 ‘trios’ of patients and their parents have been recruited to the study.

The scientists hope that by comparing the DNA of the patients and their parents, they will be able to identify new genetic mutations that could be involved in bowel cancer.

They say that, in the long run, this information could help them to predict who could be susceptible to developing bowel cancer, and to develop new cancer prevention measures and treatments for the disease.

The SCOTTY study is open to recruitment at 27 hospitals across the UK.

For more information, please contact


Professor Dunlop’s Group web page:

General information about bowel cancer:

The SCOTTY Study website: