Survey of cancer in ataxia telangiectasia patients in the UK
Research type
Research Study
Full title
Survey of cancer in ataxia telangiectasia patients in the UK
IRAS ID
261844
Contact name
Alexander Malcolm Robertson Taylor
Contact email
Sponsor organisation
University of Birmingham
Duration of Study in the UK
3 years, 0 months, 1 days
Research summary
We are part of the Department of Health funded national, multidisciplinary, paediatric and adult clinics for individuals with ataxia telangiectasia (A-T); our particular role is to genetically confirm the clinical diagnosis of A-T in all cases.
The aim of the research is to perform a detailed survey of cancer incidence in a cohort of ~300 individuals with ataxia telangiectasia (A-T) in the UK and for this to be a continuing prospective study. These patients are registered both with the A-T Society of the UK and present in our own records. Approximately 200 of these patients are alive, some having been treated for a cancer. Of the ~100 that are deceased, the cause of death was cancer in about 50 of them.
While we have some information on the types of tumour, we do not have confirmed pathology reports for the majority. We wish to know the range of tumour types and frequencies of each tumour type in A-T in a more precise manner, in terms of the exact pathological diagnosis of each tumour. For example although lymphoid tumours are the most frequent tumour type in A-T children we are less sure about the proportions of the different histological types in UK patients.This will enable us to compute the risk of A-T patients developing cancer and the range of cancers they are predisposed to.
We also want to determine how the type of tumour is related to the particular ATM mutations carried by the individuals.
We will also obtain a sample of the fixed or unfixed tumour, if it is available and analyse the RNA transcripts (RNASeq) in order to determine the biochemical pathways defective in that tumour. We are assuming that these samples will be very rare- just a few percent of the total tumour number.
REC name
North West - Greater Manchester South Research Ethics Committee
REC reference
20/NW/0343
Date of REC Opinion
5 Oct 2020
REC opinion
Further Information Favourable Opinion