Exploring the Landscape of Somatic Mutations in Human Tissue
试验速览
- 阶段
- 不适用
- 状态
- Enrolling By Invitation
- 发起方
- 入组人数
- 1,800
- 试验地点
- 1
- 主要终点
- Comparison of somatic mutation burden
研究概览
简要总结
Every cell in the human body contains a blueprint of the body called the genome. Throughout life, the genome can become damaged resulting in errors (mutations) that can change the way cells behave and may result in diseases such as cancer. Examining the mutations found the genome of both normal (non-cancerous) and diseased cells can give a valuable insight into the very earliest stages of cancer development.
Comparing the number and type of mutations in different normal tissues is revealing new insights, helping us to better understand more about why cancer develops.
详细描述
The investigators are seeking to characterise somatic mutations found in normal human tissue, as well as diseased tissue. These experiments have shown that a number of mutational processes previously observed in cancer cells, may also be present in normal tissues. By further exploring normal tissue samples from across the body, the investigators will be able to better understand why certain organs are more susceptible to mutations and what underlies the mutational processes active in many different tissue types.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 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
- •Individuals undergoing surgery
- •Individuals undergoing invasive procedures, e.g.
- •Endoscopy (oesophagogastroduodenoscopy, small bowel enteroscopy, colonoscopy, sigmoidoscopy,proctoscopy) for suspected gastrointestinal disease, e.g. coeliac disease or for surveillance of known conditions/diseases.
- •Tissue biopsy - of solid organs
- •Prospective sampling will be carried out with the research participants' consent.
排除标准
- •where consent has not been received
结局指标
主要结局
Comparison of somatic mutation burden
时间窗: 6.25 years
Identify and quantify variations that may contribute to disease development and progression between samples from the same donor and different donors, encompassing both healthy individuals and those with diseases.
次要结局
- Number of Somatic Mutations(6.25 years)
- Spectrum of Mutational Signatures(6.25 years)
- Size of Clonal Populations(6.25 years)
- Relatedness of Clonal Populations(6.25 years)