The SCOTTY study – searching for new genes that cause bowel cancer in younger people

A team of scientists, based at the University of Edinburgh, are leading a ground breaking UK-wide study that could help identify patients at risk of developing bowel cancer and find new treatments for the disease. Chief investigator of the study, Professor Malcolm Dunlop, tells us why this research is so important and how you can get involved.

What is the SCOTTY study?

The SCOTTY study (Sequencing of COlon Trios in The Young) is a research project which looks for changes in the DNA (the instructions that control how the cells in your body grow and work) of young bowel cancer patients.

We are using a technique called next generation sequencing to “read” all of the DNA of young bowel cancer patients and their parents. We can get DNA from small samples of blood or from bowel cancer samples that have been removed (known as biopsies). 

DNA changes (mutations) can hold important clues that help us understand why some people go on to develop bowel cancer and others don’t. By comparing the DNA of a patient with that of their parents, we hope to find DNA changes that may be causing bowel cancer to develop.

Why is this work important?

Through our research, we know that bowel cancer patients under 40 are more likely to have mutations in their DNA that increase their risk of developing the disease. And although a number of the genes involved in bowel cancer have already been identified over the last 20 years, there’s still lots more to discover about the genetics of the disease.

Knowing more about the genetics of bowel cancer in younger patients will ultimately help us to better predict who’s at more at risk, diagnose the disease earlier and develop new and improved treatments.   

How can people take part in the study?

We’re still looking for more people to be involved in the study. You might be able to take part if:

• You have ever been diagnosed with bowel cancer when you were aged under 40, no matter when that was - recently or even many years ago.
• You haven’t been diagnosed with Lynch syndrome (a genetic condition linked to bowel cancer).
• Your parents have not had bowel cancer. 

Because the study relies on “trios” (the patient and their two parents), both your parents need to still be alive and willing to give a sample of blood. 

If you’d like to take part and think you might be eligible you can get in touch with us at scottystudy@ed.ac.uk.

• Find out more about the SCOTTY study
• Read about a research project we are funding looking for new genes that could be involved in bowel cancer
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