A study of genetic characteristics in people under 40 with bowel cancer and their parents (SCOTTY study)

Cancer type:

Bowel (colorectal) cancer
Children's cancers





This study is looking at the genes of people under 40 with bowel cancer and comparing them with their parent’s genes to see if this can help identify which changes cause bowel cancer. These samples will be analysed using a technique called ‘Next Generation Sequencing’ (NGS).

More about this trial

Every cell in the body contains DNA. Genes are short sections of DNA. Our genes contain all the information that makes us unique.

Next generation sequencing (NGS) is a scientific technique that gives all the genetic information of a person. They will compare samples of people with bowel cancer with both their parents.

The comparison will show the genetic differences between people who have developed bowel cancer at a young age and those of their unaffected parents.

Researchers hope this information will help to identify which gene changes (mutations) might increase bowel cancer risk.

Researchers hope this will help to:

  • develop new treatments
  • predict who is at higher risk of getting bowel cancer
  • develop  ways of diagnosing bowel cancer earlier

Who can enter

The following bullet points list the entry conditions for this study. Talk to your doctor or the study team if you are unsure about any of these. They will be able to advise you.

Who can take part
You may be able to join this study if all of the following apply. You:

  • have or had bowel cancer
  • are aged 40 or under, or were younger than 40 when your cancer was diagnosed
  • have a type of cancer called adenocarcinoma (in the bowel or rectum)
  • are willing to give a one-off blood or saliva sample
  • do not have an underlying genetic cause
  • have unaffected parents who are willing to provide a blood (or saliva) sample
  • are willing to be contacted if researchers think your results might affect your health in the future
  • no known family history of bowel cancer

To take part in this study both of your parents need to be alive, and to meet the following entry criteria in order to participate.  They need to:

  • consent to you taking part if you are aged 16 or under (in Scotland age of consent is decided by competency and understanding assessment)
  • have not had bowel cancer
  • have not had a cancer associated with a gene change (mutation) that might increase bowel cancer risk (such as womb cancer)
  • do not have a gene change (mutation) known to increase bowel cancer risk
  • are willing to give a one-off blood or saliva sample
  • can be contacted within the UK
  • are willing to be contacted if researchers think their results might affect their health in the future

Who can’t take part
You cannot join this study if you have a gene change (mutation) known to increase bowel cancer risk.

Trial design

In this trial the researchers look at the genetic information of:

  • the person who is under 40 with bowel cancer (you)
  • their unaffected parents

This set is called a trio. If you or either of your parents decide not to take part at any time, you will all have to leave the study.

Researchers need about 600 people to take part (200 trios).

You will only need to give one blood sample. Usually this will give researchers all of the information they need.

It might be possible to give a saliva sample if you or your parents are not able to give a blood sample. 

Hospital visits

You will not need to go to any extra appointments if you take part in the study.

The blood sample can be taken at your outpatient appointment. Or you can attend at a suitable time for you and your parents.

The trial team can send you a blood kit. You can arrange for your practice nurse to take the samples if this is easier for you. Your parents can also have a blood kit mailed out to them. 

Side effects

There is a small possibility the trial team might need a second blood sample to confirm your results. You might have mild bruising or pain after your blood test.

Researchers might find genetic changes (mutations) that can affect your risk of cancers or health conditions. They will tell you if they find any changes and they can refer you to your local genetics counselling service.


Newcastle upon Tyne

Recruitment start:

Recruitment end:

How to join a clinical trial

Please note: In order to join a trial you will need to discuss it with your doctor, unless otherwise specified.

Please note - unless we state otherwise in the summary, you need to talk to your doctor about joining a trial.

Chief Investigator

Professor Malcolm G Dunlop

Supported by

Cancer Research UK
NHS Lothian
University of Edinburgh

Freephone 0808 800 4040

Last review date

CRUK internal database number:


Please note - unless we state otherwise in the summary, you need to talk to your doctor about joining a trial.

Over 60,000 cancer patients enrolled on clinical trials in the UK last year.

Last reviewed:

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