St Mark’s Familial Colorectal Cancer Group

What we do

We aim to define the inherited causes of familial colorectal cancer and prevent its development by chemoprevention and colonoscopic surveillance

Why it is important

Familial risk contributes substantially to the risk of colorectal cancer. Genetic testing can identify family members at increased risk of developing colorectal cancer who can then undergo colonoscopic surveillance. Family members who do not carry an altered gene may not require any additional surveillance. In families with not known genetic predisposition evidence-based guidelines are required to define who requires colonoscopic surveillance and from what age. Colonoscopic surveillance is a significant burden on NHS resources and needs to be targeted appropriately.

How it can benefit patients

Genetic testing for inherited predispositions to colorectal cancer and empiric risk assessment of those without known inherited predispositions allows colonocopic surveillance to be targeted appropriately to prevent the development of colorectal cancer.

Chemoprevention in families at high familial risk of colorectal cancer has been shown to substantially reduce the incidence of colorectal cancer.

Summary of current research

• We have a cohort of 3800 patients at increased familial risk of colorectal cancer who have undergone prospective colonocopic surveillance.
• We have permission from the Confidentiality Advisory Group under Sections 251 (NHS Act 2006) for our patients to be flagged by NHS Digital for cancer registration and deaths.
• We have a dedicated database (CRUK-funded) of our patients who have undergone prospective colonocopic surveillance with details of their clinical history, family history, genetic testing and the outcomes of colonocopic surveillance.
• We have had a dedicated database manager funded by The David and Elaine Potter Foundation for the past two years
• We have a particular interest in the surveillance of Lynch syndrome gene-carriers and those at high empiric familial risk with no defined genetic predisposition (Familial Colorectal Cancer)
• We undertake studies on the prospective outcome of colonoscopic surveillance in different genetic and empiric risk groups in collaboration Prof Peter Sasieni at Kings College London
• We are co-investigators on CaPP3 prospective dose non-inferiority study of aspirin chemoprevention in Lynch syndrome with Prof Sir John Burn (CRUK-funded)
• We have a long-standing collaboration with Prof Ian Tomlinson (University of Edinburgh) to identify new genetic predispositions to colorectal cancer in our families.