Ewch i’r prif gynnwys

Inherited Tumour Syndromes Research Group (ITSR Group)

We undertake research into inherited tumour syndromes with a particular interest in intestinal polyposis syndromes.

Our team is based within the Division of Cancer and Genetics of the School of Medicine and are made up of specialised groups working in collaboration with the NHS, international colleagues and fellow academics across the University.


  • Characterise the inherited and somatic genetic variation associated with intestinal polyposis syndrome and the tumours that these patients develop.
  • Elucidate the molecular and cellular mechanisms involved.
  • Use this knowledge to facilitate better or novel approaches to diagnosis, treatment and prevention.

Current research studies

Intestinal polyposis syndromes

1. Genetic mechanisms in polyposis of the bowel

This study that is recruiting across the UK aims to discover novel genetic mechanisms underlying polyposis of the bowel and the development of tumours in this group of disorders. 12/WA/0071. UKCRN ID, 14774

2. Molecular genetic analysis of duodenal polyposis in the inherited colorectal adenoma and cancer predisposition syndromes (Familial Adenomatous Polyposis and MUTYH-Associated Polyposis)

Patients with familial adenomatous polyposis (FAP) and MUTYH associated polyposis (MAP) are also at risk of developing premalignant and malignant tumours in the duodenum as well as the colorectum. In this study, we investigate the genetic factors, inherited and somatic, associated with growth and progression of duodenal adenomas to cancer in MAP and FAP. 15/WA/0075. UKCRN ID, 19065

3. A prospective Europe-wide study of duodenal disease in MUTYH - Associated Adenomatous Polyposis (MAP)

This first multi-centre European prospective study of duodenal disease in MAP aims to provide evidence as to whether surveillance recommendations developed for patients with FAP are also appropriate for patients with MAP. It aims to collect long-term data on the endoscopic findings and provide follow-up information to aid understanding of the natural history of duodenal disease in MAP, taking into account that some patients may require therapeutic procedures including removal of polyps where there is advanced duodenal disease. It will also prospectively collect data on the occurrence of colorectal cancer and extra-intestinal cancers. 11/WA/0208

4. Genes and the kidney in Tuberous Sclerosis (TSC)

There is a small subgroup of patients with tuberous sclerosis who have severe renal cystic disease resembling that found in adult onset polycystic kidney disease but often with early or congenital onset. We reported contiguous gene deletions involving both TSC2 and PKD1 in these patients in 1994, but little is known about the natural history of the TSC2/PKD1 contiguous gene deletion syndrome into adulthood.  The aim of this study is to determine the natural history of renal disease in patients with the TSC2/PKD1 contiguous gene deletion and compare this with patients with mutations in TSC2 or TSC1 alone. 10/MRE/092. UKCRN ID, 1940

Previous research studies

Tuberous sclerosis

1. Exome/genome sequencing of TSC no mutation identified (NMI) patients

Mutations in TSC1/TSC2 are known to underlie at least 80% of TSC cases. However, in up to 20% of the remaining cases, alterations in these genes remain are currently unidentified. These “no mutation identified” patients (NMI) may have undetected mutations in gene regions which are not usually screened diagnostically (e.g. promoters or untranslated regions [UTRs]) while some patients with TSC-like phenotypes may have causative mutations in other genes. The aim of this study is to determine the underlying molecular mechanisms for the TSC and TSC-like signs and symptoms in these patients, improving genetic diagnosis for this group of patients. 11/WA/0276. UKCRN ID, 13635

2. Molecular genetic and endoscopic studies of duodenal polyposis in the inherited colorectal adenoma and cancer predisposition syndromes (Familial Adenomatous Polyposis and MUTYH-Associated Polyposis)

The overall aim of this research was to gain a better understanding of the genetic factors that affect the growth of duodenal adenomas in patients with MAP and FAP, and to discover more about how duodenal polyps progress. It also aimed to determine if dye-spraying the duodenum leads to greater detection of polyps, and a better estimation of their size and structure. 10/MRE09/4

Please contact our Research Co-ordinator/ Information Governance Lead Laura Butlin for further information about the studies including patient information sheets and GDPR transparency statements.

Group Lead

Yr Athro Julian Sampson

Head Of Department

+44 (0)29 2074 4050

Academic staff

Dr Laura Thomas

Research Associate

+44 (0)29 2251 0025 / (0)29 2068 7859

Dr Hannah West

Research Associate


Postgraduate students

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Dr Emma Short

Research student

+44 29206 87143

Associated staff

Laura Butlin

Laura Butlin

Research Assistant - Data Manager

+44 (0)29 2068 7118
Iris Egner

Dr Iris Egner

Research Co-Ordinator

+44 (0)29 2251 0028