SMS - Study of Somatic Mutations Using Genome Sequencing

The Wellcome Sanger Institute

Status: Invitation-only

Conditions: Somatic Mutation

Treatments: Other: Sample Collection: Surgical; Other: sample collection; Other: Seeking consent

Study type: Observational

Funder types: Other

Identifiers

NCT06851052

182435

Details and patient eligibility

About

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.

Full 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.

Enrollment: 600 estimated patients

Sex: All

Ages: 18+ years old

Volunteers: Accepts Healthy Volunteers

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.

Trial design

600 participants in 2 patient groups

Controls

Description:

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.

Treatment:

Other: Seeking consent

Other: sample collection

Patients

Description:

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.

Treatment:

Other: Seeking consent

Other: sample collection

Other: Sample Collection: Surgical