Exploring the Landscape of Somatic Mutations in Human Tissue
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: sample collection.
- Who it may be relevant to
- Registry conditions: Somatic Mutation. Basic parameters: from 18 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United Kingdom
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Overview
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.
Detailed description
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.
Interventions
- Other sample collection
blood and/or tissue collection
Primary outcome measures
- Comparison of somatic mutation burden [Time frame: 6.25 years]
Secondary outcome measures (4)
- Number of Somatic Mutations [Time frame: 6.25 years]
- Spectrum of Mutational Signatures [Time frame: 6.25 years]
- Size of Clonal Populations [Time frame: 6.25 years]
- Relatedness of Clonal Populations [Time frame: 6.25 years]
Eligibility criteria
Inclusion criteria
- 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.
Exclusion criteria
- where consent has not been received
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: Yes
Study design
- Observational model
- Cohort
Study locations
United Kingdom · 1 center
- Wellcome Sanger Institute — Cambridge
Identifiers
NCT: NCT06585800 · 248671