Somatic Mutations in Individuals with Inherited Cancer Predisposition
Research type
Research Study
Full title
Somatic mutations in normal and abnormal human cells in individuals with inherited cancer predisposition syndrome
IRAS ID
239501
Contact name
Peter Campbell
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. There are a number of inherited syndromes that are associated with an increase in cancer risk, many of which act through increasing the mutation rate as cells divide.
In this study we will use pre-collected tissue biopsy samples from organs and sites across the whole body (taken at definitive surgery for invasive cancer or from biopsies, blood and saliva samples taken during routine care).
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 clinics specialising in inherited cancer syndromes in Canada (Sick Kids Hospital, Toronto).
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 and the changing structures of cells during life.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), in individuals with high inherited cancer risk.
REC name
North West - Preston Research Ethics Committee
REC reference
17/NW/0713
Date of REC Opinion
30 Nov 2017
REC opinion
Favourable Opinion