Clinical trial NCT06585800: Exploring the Landscape of Somatic Mutations in Human Tissue
Official title: Exploring the Landscape of Somatic Mutations in Human Tissue
Study type: OBSERVATIONAL
Overall status: ENROLLING_BY_INVITATION
Conditions: Somatic Mutation
Lead sponsor: The Wellcome Sanger Institute
Sponsor class: OTHER
First posted: 2024-09-19
Enrollment: 1800
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: COHORT
Time perspective: OTHER
Sampling method: NON_PROBABILITY_SAMPLE
Study population: 1. Normal (healthy) tissue - across ages 18 - 80+ years
2. Normal (healthy) tissue, diseased tissue and neoplastic tissue in patients with conditions associated with known disease processes, including syndromes caused by DNA repair defects
3. Normal (healthy) and neoplastic tissue in patients previously treated with treatments known to cause somatic mutations, e.g. chemotherapy.

Clinical collaborators will identify and recruit prospective research participants into the study.

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.

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\&#39; consent.

Exclusion Criteria:

* where consent has not been received

Primary outcomes:
measure: Comparison of somatic mutation burden
timeFrame: 6.25 years
Secondary outcomes:
measure: Number of Somatic Mutations
timeFrame: 6.25 years
measure: Spectrum of Mutational Signatures
timeFrame: 6.25 years
measure: Size of Clonal Populations
timeFrame: 6.25 years
measure: Relatedness of Clonal Populations
timeFrame: 6.25 years
Other outcomes:
Locations:
city: Cambridge
country: United Kingdom
facility: Wellcome Sanger Institute
Study officials:
affiliation: Wellcome Sanger Institute
name: Mike Stratton
role: PRINCIPAL_INVESTIGATOR
References: