Study of cancer risks in ataxia telangiectasia heterozygotes
Research type
Research Study
Full title
Study of cancer risks in ataxia telangiectasia heterozygotes
IRAS ID
242187
Contact name
A.M.R. Taylor
Contact email
Sponsor organisation
University of Birmingham
Clinicaltrials.gov Identifier
Data sharing agreement, NIC-148129-FK1JJ; Reply from NHS Digital, NIC -169986-T2R4G; Old PIAG number for REC Ref 5065, PIAG 4-07(a)/2002 application number A0017,
Duration of Study in the UK
3 years, 0 months, 1 days
Research summary
The aim of the study is to determine whether carriers of an ATM (Ataxia Telangiectasia Mutated) mutation have an increased risk of developing cancer.
The purpose of the project is to provide more reliable evidence on these risks by obtaining data on cancer incidence and carrier status from a large series of ataxia telangiectasia families in the UK.
Our first publication (2005) on this data confirmed the clear increased risk of breast cancer and strongly suggested an increased risk for other tumours ( "Cancer risks and mortality in heterozygous ATM mutation carriers.Thompson D, Duedal S, Kirner J, McGuffog L, Last J, Reiman A, Byrd P, Taylor M, Easton DF.J Natl Cancer Inst. 2005 Jun 1;97(11):813-22").
We wish to gain access to the accrued incidence and mortality data in NHS digital to make an up to date assessment of cancer risks in these families. By 2018 we anticipate that we will have accrued sufficient cases of cancer to perform another analysis with substantially improved statistical power. This will improve the accuracy of our effect estimate, particularly for the less common cancers.
REC name
West Midlands - Edgbaston Research Ethics Committee
REC reference
20/WM/0002
Date of REC Opinion
30 Jan 2020
REC opinion
Favourable Opinion