Somatic Mutation
Conditions
Brief summary
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
OTHERsample collection
blood and/or tissue collection
Sponsors
The Wellcome Sanger Institute
Study design
Observational model
COHORT
Time perspective
OTHER
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
Yes
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Comparison of somatic mutation burden | 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. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Number of Somatic Mutations | 6.25 years | Quantification of the total number of somatic mutations present in the tissue samples. |
| Spectrum of Mutational Signatures | 6.25 years | Analysis of the spectrum of mutational signatures, including: * Base Substitutions * Indels (Insertions and Deletions) * Genome Rearrangements * Copy Number Changes |
| Size of Clonal Populations | 6.25 years | Measurement of the size of clonal populations within the tissue samples. |
| Relatedness of Clonal Populations | 6.25 years | Analysis of the genetic relatedness of clonal populations within the tissue samples. |
Countries
United Kingdom
Outcome results
None listed