Study summary

The SCOTTY Study  - The sequencing of colon trios in the young

Whole genome sequencing of young colon cancer patients and their parents

Cancer of the large bowel (colorectal cancer) is common in the general population and the lifetime risk for someone living in the UK is 1 in 17. Whilst modern surgery, radiotherapy and chemotherapy treatments have impacted beneficially on survival outcome, many patients still die from their disease. Hence, there is a pressing need to understand the causes of colorectal cancer and to intervene early. Colorectal cancer under the age of 40 years of age is particularly rare, with less than 1.2% of all cases aged <40 years. We have published extensively that patients within this age group are highly enriched for underlying major genetic effects. A number of genes have been identified over the past 20 years, but much of the genetic aetiology remains to be discovered.  We now plan a major initiative to conduct “next-generation” sequencing of the whole genome of young patients and both parents where there is no evidence of cancer “running in the family”.

Our aim in this study is to conduct detailed genetic analysis of blood and tissue removed from tumours from individuals who have developed bowel cancer at a young age and also blood samples from each of their parents. These samples will be analysed using a technique called “Next-Generation Sequencing” (NGS).  NGS is a scientific technique that gives us a “read-out” of all the genetic information that is stored in our DNA within each of our cells within the body. It is this information that makes every person unique.  We aim to identify changes in patients DNA (mutations) that may not be present in parents. We aim to collect this information to help us identify mutations that are causing bowel cancer.  This will in the long term help us to develop new treatments and predict who will be susceptible to cancer and so be able to prevent disease progression.