Myotonic Dystrophy in Northern Ireland v1
Research type
Research Study
Full title
Myotonic Dystrophy in Northern Ireland
IRAS ID
240892
Contact name
Lesley A Anderson
Contact email
Sponsor organisation
Queen's University Belfast
Duration of Study in the UK
0 years, 11 months, 31 days
Research summary
Myotonic Dystrophy (DM) is an inherited, autosomal-dominant condition which is characterised by muscle wasting and multisystem disorders. There is accumulating evidence suggesting that patients with DM are at excess risk of developing cancer. However, inconsistencies in identified cancer sites, including endometrial, ovarian, brain, thyroid, colon, eye and skin, between studies have been reported.
Northern Ireland offers a unique environment in which to undertake an investigation of the reported associations between DM and cancer as information is population-based with genetic homogeneity and large family sizes. Additionally, Northern Ireland has population-based registers of pre-malignant conditions that are established or in development in addition to registers of all non-melanoma skin cancer cases which are not captured by most cancer registries. Linkage between DM and cancer registry data, held within the Northern Ireland Cancer Registry, will facilitate investigation of the prevalence of premalignant conditions and cancers in DM patients expanding on prior research. This, in addition to a GWAS investigation, linking data with other global cohorts, may enable the identification of genetic susceptibility to cancer in DM patients. If incidence of specific cancers is indeed elevated in DM patients, screening might be considered to enable earlier detection and treatment improving prognosis. Using the Northern Ireland Biobank to investigate molecular and pathological nature of the cancers that develop in these patients, compared to cancers occurring in the general population, may help to determine prevention strategies.
REC name
London - Fulham Research Ethics Committee
REC reference
18/LO/0906
Date of REC Opinion
12 Jun 2018
REC opinion
Further Information Favourable Opinion