Genetic mechanisms in desmoid formation - Version 1
Research type
Research Study
Full title
Exploration of genetic mechanisms in desmoid tumours, to identify possible genetic candidates and variants involved in their formation.
IRAS ID
130508
Contact name
Susan Clark
Contact email
Sponsor organisation
North West London Hospitals NHS Trust
Research summary
15% of patients with familial adenomatous polyposis (FAP) develop benign desmoid tumours, the majority are abdominal. After addressing the colorectal cancer risk associated with FAP, through prophylactic colectomy, desmoid tumours become the 2nd/3rd most common cause of death in those with FAP. The majority of these rare tumours have a stable growth state and are a minor inconvenience. 10% grow aggressively leading to complications such as bowel or ureter obstruction, sometimes perforation and even death. Risk factors for desmoid development include female gender and certain genetic mutations. Having a family history of desmoid in FAP is a separate aetiological factor to the inherited genetic mutation in their development and strongly suggests the presence of a modifier gene that is so far undiscovered. Little is known about why these collagen forming tumours grow, why some may regress yet others grow uncontrollably. Identifying a modifier gene would enhance our understanding of desmoid biology, aetiology and prognosis which could direct future treatments.
We intend to look for potential genetic candidates by analysing DNA from FAP patients with desmoid disease and comparing it with that obtained from patients with FAP and no history of desmoid. This will involve taking a single blood sample from each patient on one occasion and analysing it in a genetics laboratory.
Eligible patients will be fully consenting adults who agree to take part in the study. It is anticipated that 50 patients from each of the two groups will be recruited.
The study will be conducted at St Mark’s Hospital and the DNA extracted and analysed in the Kennedy-Galton Centre, North West London Hospitals NHS Trust. Further detailed DNA analysis will be performed in a genetics laboratory in Arizona University.
It is anticipated that the study will last up to 18 months.
REC name
London - Camberwell St Giles Research Ethics Committee
REC reference
13/LO/0893
Date of REC Opinion
5 Jul 2013
REC opinion
Favourable Opinion