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, tuberous sclerosis (TSC) and TSC-like phenotypes.

We are based within the Cancer and Genetics division 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.

Aims

  • Characterise the inherited and somatic genetic variation associated with these disorders 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.

Our work on tuberous sclerosis (TSC) is undertaken by the following groups:

Our work on polyposis syndromes is undertaken in collaboration with NHS and academic colleagues in medical genetics, gastroenterology and surgery.

National and international collaborators include:

  • Hes and Neilsen (Leiden)
  • Aretz (Bonn)
  • Moller (Oslo)
  • Jenkins and Win (Melbourne)
  • de Vries (Cape Town)
  • Korbonits and Bolton (London).

Selected publications

Intestinal polyposis syndromes

Genetic mechanisms in polyposis of the bowel

(12/WA/0071. UKCRN ID, 14774)

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.

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

(15/WA/0075. UKCRN ID, 19065)

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.

Tuberous sclerosis

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

(11/WA/0276. UKCRN ID, 13635)

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.

Find out more about this project.

Genes and the kidney in Tuberous Sclerosis (TSC)

(10/MRE/092. UKCRN ID, 19401)

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.

Find out more about this project.

Lead researcher

Yr Athro Julian Sampson

Head Of Department

Email:
sampson@caerdydd.ac.uk
Telephone:
+44 (0)29 2074 4050

Academic staff

Dr Laura Thomas

Research Associate

Email:
thomasl41@caerdydd.ac.uk
Telephone:
+44 (0)29 2251 0025 / (0)29 2068 7859

Dr Hannah West

Research Associate

Email:
westh3@caerdydd.ac.uk

Postgraduate students

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Dr Emma Short

Research student

Email:
shorte@caerdydd.ac.uk
Telephone:
+44 29206 87143
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Miss Elena Meuser

Research student

Email:
meusere@caerdydd.ac.uk

Associated staff

Dr Hala Jundi

Research Co-Ordinator

Email:
jundih2@caerdydd.ac.uk
Telephone:
+44 (0) 2920687859

Konstantinos Grigoratos

Project Administrator

Email:
grigoratosk@caerdydd.ac.uk
Telephone:
+44 (0)29 2068 7332