The Scotty Study

 Colon Cancer / Posted 1 year ago

The Scotty Study: whole genome sequencing study of young colon cancer patients and their parents

Scientists in Edinburgh are leading a groundbreaking UK-wide study that could help doctors and scientists identify patients at risk of developing bowel cancer and find new treatments for the disease.
Professor Malcolm Dunlop and his team from the Cancer Research UK Edinburgh Centre 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.
There are around 41,700 new bowel cancer cases in the UK every year*, and every year around 16,000 people in the UK 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, more than 120 ‘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 37 hospitals across the UK. Anyone who has had bowel cancer under 40 years of age is eligible to take part in the study, as long as both parents are still living and also willing to submit a blood sample.

  • Inclusion Criteria :
    • Patients who have developed colorectal cancer at aged 40 years of age or younger at the time of diagnosis. (Individuals OVER the age of 40 years ARE eligible if they were previously diagnosed with colorectal cancer when aged 40 years or younger).
    • Patients will not have a known molecular genetic predisposition to the development of colorectal cancer or a strong family history of cancer consistent with known dominant disorders.
    • Patients are able to provide written informed consent for whole genome sequencing and blood/saliva biomarkers.
    • Documentary evidence of a pathologically confirmed adenocarcinoma of colon or rectum along with consent to access archived tumour material from the time of operation.
    • Demographic and drug history are available or can be ascertained from patient.
    • If the patient is under the age of 16 years, both parents are available to sign/countersign a consent form. Whilst cases under the age of 16 years are extremely rare, these cases greatly enhance the value of their contribution to the study.
    • Inclusion can be from any part of mainland GB and Northern Ireland and of any ancestry.
    • Patients will be asked if they agree to being re-contacted if further confirmatory samples are required and/or results are of clinically significant relevance. PARENTS INLCUSION CRITERIA
    • Neither parent will have had a past or present diagnosis of colorectal cancer or other cancer relevant to CRC predisposition such as endometrial cancer.
    • Both parents will be alive and are contactable within the United Kingdom and Northern Ireland.
    • Both parents will not have a known genetic predisposition to the development of colon cancer.
    • Both parents will be able to provide written informed consent for sampling.
    • Both parents will provide a simple blood sample for whole genome sequencing & blood or saliva biomarkers.
    • Demographic and drug history are available or can be ascertained from parents.
    • Both parents will be asked to agree to being re-contacted if further confirmatory samples are required and/or results have clinical implications.
  • Exclusion Criteria :
    • BOTH parents unable to provide samples.
    • The inability to provide informed consent.
    • Patients who have developed CRC aged over 40 years at diagnosis.
    • Tumour that has shown loss of DNA mismatch repair gene protein expression or tumour that has exhibited MSI (micro satellite instability).
    • Familial CRC (a strong family history)
    • Both parents are unable to provide samples.
    • The inability to provide informed consent.
    • Known mutations in colorectal susceptibility genes within the family (eg APC,MLH1, MSH2, MSH6, PMS2, MUTYH, POLE1, POLD1, SMAD4/BRCA/STK11).
  • Study start date : 31/08/2016
  • Study end date : 30/09/2021
  • Principal Investigator : Professor Julian Sampson
Contact details

Betsi Cadwaladr UHB & Cardiff and Vale UHB Wales Wide  Show Phone Number scottystudy@ed.ac.uk www.ed.ac.uk

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