The SCOTTY Study
Research type
Research Study
Full title
The SCOTTY Study - whole genome sequencing study of young colon cancer patients and their parents.
IRAS ID
188787
Contact name
Malcolm Dunlop
Contact email
Sponsor organisation
The University of Edinburgh
Duration of Study in the UK
5 years, 0 months, 0 days
Research summary
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”. We aim to identify new mutations (a permanent alteration in the DNA sequence that makes up a gene)arising in affected patients that is not present in either parent and recessive genetic traits where one rare form of a gene (an allele) is inherited from each unaffected parent. We will study the effects of such inherited alterations in the DNA sequence that makes up a gene (mutations) on existing stored tumour samples from archived collections. Identifying these genes will lead to direct patient benefit and also to other family members. Furthermore, such discoveries of novel recessive mutations and new dominant mutations in young affected individuals who have developed colorectal cancer will enable us to elucidate the complex inherited component of colorectal cancer risk.\n\n
REC name
South East Scotland REC 01
REC reference
16/SS/0008
Date of REC Opinion
18 Jan 2016
REC opinion
Unfavourable Opinion