SMS - Study of Somatic Mutations Using Genome Sequencing
试验速览
- 阶段
- 不适用
- 状态
- Enrolling By Invitation
- 发起方
- 入组人数
- 600
- 试验地点
- 1
- 主要终点
- The study will measure the burden of somatic mutations in tissues and how this varies between controls and patients.
研究概览
简要总结
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.
详细描述
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Other
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •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.
排除标准
- •Adults who lack capacity to consent.
- •Children.
结局指标
主要结局
The study will measure the burden of somatic mutations in tissues and how this varies between controls and patients.
时间窗: 10 years
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.
The specific mutations in genes and their prevalence will be determined.
时间窗: 10 years
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.
次要结局
未报告次要终点