BALANCE study 1.0
Research type
Research Study
Full title
Buccal swabs from donors with differing clinical characteristics
IRAS ID
318380
Contact name
Samuel Janes
Contact email
Sponsor organisation
University College London
Duration of Study in the UK
3 years, 0 months, 0 days
Research summary
Random mutations in cells (somatic mutations) accumulate as we age. They are responsible for the development of cancers, and they have been speculated to contribute to ageing and other diseases. However, despite their importance, our understanding of the rates and patterns of somatic mutation in normal human tissues remains in its infancy due to the technical challenge of detecting mutations present in single cells or small numbers of cells. In recent years, the Wellcome Trust Sanger Institute have led the development of new technologies to study somatic mutations in normal tissues, however studies so far have been limited to very small numbers of individuals due to the complexity and cost of the technologies used and the limited availability of invasive tissue biopsies from healthy individuals. To enable the study of somatic mutation in large groups of individuals using non-invasive DNA samples, the Martincorena lab have recently developed a new sequencing technology called NanoSeq. Here, we propose to apply whole-genome and targeted NanoSeq to a large collection of buccal swabs samples collected from donors with a diversity of clinical histories (including history of cancer, smoking history, alcohol consumption, BMI, medication/treatments), to study the extent to which mutation rates, signatures and drivers vary across the population and how they are shaped by clinical factors and exposures, and how they influence, and can be used to predict, cancer risk.
REC name
North East - York Research Ethics Committee
REC reference
22/NE/0167
Date of REC Opinion
7 Sep 2022
REC opinion
Further Information Favourable Opinion