An observational study in Somatic Mutation, sponsored by The Wellcome Sanger Institute. Enrolling by invitation at 1 site in United Kingdom. Open to participants aged 18 Years and older, including healthy volunteers. Per ClinicalTrials.gov, last updated 2025-07-20.
Sponsored by The Wellcome Sanger Institute · Observational
Disease and tissue aging are thought to be influenced by genetic changes, or mutations, acquired throughout life. These mutations provide clues regarding the genetic damage that occurred through the lifetime of the patient, and include mutations caused by environmental factors such as ultraviolet light from sunlight or tobacco smoke affecting the skin or internal tissues, respectively. Other mutations may occur due to errors in copying the genome as cells divide. Improvements in technologies that read the genetic code have made it possible for all or selected parts of the genetic code of a human being to be "sequenced", allowing mutations (changes in the genetic code) to be detected.
In this research, samples of blood, skin biopsies, plucked hairs, urine, surplus tissue removed during future planned surgery, and archived samples removed in the past will be used. The order of DNA bases in the genetic code (sequencing) in the samples will help to understand how the number and type of cells with changes in their DNA is different in tissues depending on a person's age, their exposure to environmental agents, or other factors such as disease history or treatments such as radiotherapy.
The Wellcome Sanger Institute is the lead sponsor of 9 studies on the registry; 8 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Patients who may have genetic damage caused by environmental factors, for example, a history of exposure to relevant carcinogens, such as, a high level of sunlight or tobacco. These will be identified by recruiting clinicians and research nurses in participating hospitals.
Control participants will either be relatives of patients identified by a research nurse or clinician, or will be recruited via poster. The posters will be placed in public and staff areas in participating hospitals.
Exclusion Criteria:
Healthy adults with capacity to consent these may be patient's relatives either recruited by the research nurse or clinician, or recruited via posters put up around the hospital requesting volunteers.
Other: sample collection · Other: Seeking consent
Adults with capacity to consent who have been highlighted by research nurse or clinician as potentially having genetic damage caused by environmental factors, such as UV light or tobacco smoke, or other factors, such as disease history or treatments, for example radiotherapy.
Other: sample collection · Other: Seeking consent · Other: Sample Collection: Surgical
Samples could include blood, skin biopsy, urine, plucked hair.
Excess surgical tissue (diseased tissue or tissue being removed for a clinical reason).
The study will measure the burden of somatic mutations in tissues and how this varies between controls and patients.
Robust statistical methods developed at the Wellcome Trust Sanger Institute will be used to analyse and interpret human genome data. This study will use bespoke computer programmes to determine the prevalence of rare mutations in normal tissue by competing the ratio of synonymous and nonsynonymous mutations for each gene analysed.
Time frame: 10 years
The specific mutations in genes and their prevalence will be determined.
Robust statistical methods developed at the Wellcome Trust Sanger Institute will be used to analyse and interpret human genome data. This study will use bespoke computer programmes to determine the prevalence of rare mutations in normal tissue by competing the ratio of synonymous and nonsynonymous mutations for each gene analysed.
Time frame: 10 years
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
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The Wellcome Sanger Institute