An observational study in Somatic Mutation, sponsored by The Wellcome Sanger Institute. Enrolling by invitation at 1 site in United Kingdom. Open to participants aged 18 Years and older, including healthy volunteers. Per ClinicalTrials.gov, last updated 2024-09-19.
Sponsored by The Wellcome Sanger Institute · Observational
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.
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.
The Wellcome Sanger Institute is the lead sponsor of 9 studies on the registry; 8 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Clinical collaborators will identify and recruit prospective research participants into the study.
Exclusion Criteria:
For participants undergoing surgery, research tissue specimens will be sampled from resected tissue - no additional solid tissue research samples will be removed from patients undergoing surgery. Samples taken from surgery will be either from the margins of the resected specimen, or the specimen itself. However this will be done only with agreement with the clinical team and the histopathologist to ensure that clinical pathology is not affected.
Other: sample collection
Endoscopy (oesophagogastroduodenoscopy, small bowel enteroscopy, colonoscopy, sigmoidoscopy, proctoscopy) for suspected gastrointestinal disease e.g. coeliac disease or for surveillance of known conditions/ diseases. For participants undergoing endoscopy as part of their routine clinical care, additional tissue biopsies will be taken for the purpose of this study only in cases where it is safe to do so.
Other: sample collection
Tissue Biopsies of solid organs. For participants undergoing tissue biopsy as part of their routine clinical care, additional tissue biopsies will be taken for the purpose of this study only in cases where it is safe to do so. For those undergoing high risk biopsies, e.g. liver biopsies, samples for research will only be taken from clinical specimens, i.e. no additional specimens will be taken solely for the purpose of research.
Other: sample collection
blood and/or tissue collection
Comparison of somatic mutation burden
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.
Time frame: 6.25 years
Number of Somatic Mutations
Quantification of the total number of somatic mutations present in the tissue samples.
Time frame: 6.25 years
Spectrum of Mutational Signatures
Analysis of the spectrum of mutational signatures, including: * Base Substitutions * Indels (Insertions and Deletions) * Genome Rearrangements * Copy Number Changes
Time frame: 6.25 years
Size of Clonal Populations
Measurement of the size of clonal populations within the tissue samples.
Time frame: 6.25 years
Relatedness of Clonal Populations
Analysis of the genetic relatedness of clonal populations within the tissue samples.
Time frame: 6.25 years
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
No contact was published for this record. The registry link below has the sponsor’s details.
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The Wellcome Sanger Institute