Somatic mutations in normal and abnormal human cells
Research type
Research Study
Full title
Somatic Mutations in Normal and Abnormal Human Cells
IRAS ID
230984
Contact name
Mike Stratton
Contact email
Sponsor organisation
Wellcome Trust Sanger institute
Duration of Study in the UK
5 years, 0 months, 0 days
Research summary
All cells of the human body continuously acquire mutations in their DNA. These are known as somatic mutations, and they are not passed onto children. Using modern DNA sequencing technology we can detect somatic mutations present in single cells or small numbers of cells.
In this study we will use pre-collected tissue biopsy samples collected from multiple organs and sites across the human body from normal and cancer/disease states post mortem. It is not possible for us to collect this extensive range of tissue biopsies ourselves. Therefore, for all tissue types we are obtaining samples from donors that have been recruited sensitively through the medical donation programme at Memorial Sloan Kettering Cancer Centre in New York.
The aim is to sequence the different cells of the human body and identify the somatic mutations. This will provide information on the number and types of somatic mutations, as well as inform on the mutational processes, be that internal or external to the body, that resulted in them. We will search specifically for 'driver' mutations (a mutation within a gene that confers a selective growth advantage and thus promotes cancer development).
Finally we will use the sequence information to develop cell lineage trees (the developmental history of a cell back to the cell type it developed from) of the different cell types in the human body from an individual. This will allow us to gain a deep and meaningful understanding into embryonic development, how embryonic cells contribute to adult tissues, a deeper understanding of developmental disorders and the common ancestry of adult tissues during ageing.
This study will therefore provide insights into the fundamental processes of somatic mutagenesis (the process by which the genetic information is changed resulting in a mutation), ageing and cancer development.
REC name
East of Scotland Research Ethics Service REC 1
REC reference
17/ES/0102
Date of REC Opinion
27 Jul 2017
REC opinion
Favourable Opinion