SMS - Study of Somatic Mutations Using Genome Sequencing (SMS)

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.

Study Overview

• Status: Enrolling by invitation
• Conditions: Somatic Mutation
• Intervention / Treatment: Other: sample collection; Other: Seeking consent; Other: Sample Collection: Surgical

Detailed Description

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.

• Study Type: Observational
• Enrollment (Estimated): 600

Contacts and Locations

Study Locations

• United Kingdom
  • Cambridge, United Kingdom
    • Wellcome Sanger Institute

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: Yes

• Sampling Method: Non-Probability Sample

Study Population

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.

Description

Inclusion Criteria:

• Controls: Healthy adults with capacity to consent
• Patients: 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.

Exclusion Criteria:

• Adults who lack capacity to consent.
• Children.

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Controls; 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; Samples could include blood, skin biopsy, urine, plucked hair.; Other: Seeking consent
Patients; 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; Samples could include blood, skin biopsy, urine, plucked hair.; Other: Seeking consent; Other: Sample Collection: Surgical; Excess surgical tissue (diseased tissue or tissue being removed for a clinical reason).

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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.	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.	10 years

Collaborators and Investigators

• Sponsor: The Wellcome Sanger Institute
• Collaborators: Cambridge University Hospitals NHS Foundation Trust; Hull University Teaching Hospitals NHS Trust
• Investigators: Principal Investigator: Phil Jones, PhD, Wellcome Sanger Institute

Study record dates

Study Major Dates

• Study Start (Actual): October 1, 2016
• Primary Completion (Estimated): June 14, 2028
• Study Completion (Estimated): July 14, 2028

Study Registration Dates

• First Submitted: February 11, 2025
• First Submitted That Met QC Criteria: February 24, 2025
• First Posted (Actual): February 28, 2025

Study Record Updates

• Last Update Posted (Actual): July 20, 2025
• Last Update Submitted That Met QC Criteria: July 18, 2025
• Last Verified: February 1, 2025

More Information

Terms related to this study

• Other Study ID Numbers: 182435

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No