Exploring the Landscape of Somatic Mutations in Human Tissue

The Wellcome Sanger Institute

Status: Invitation-only

Conditions: Somatic Mutation

Treatments: Other: sample collection

Study type: Observational

Funder types: Other

Identifiers

NCT06585800

248671

Details and patient eligibility

About

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.

Full 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.

Enrollment: 1,800 estimated patients

Sex: All

Ages: 18+ years old

Volunteers: Accepts Healthy Volunteers

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

Trial design

1,800 participants in 3 patient groups

1.Undergoing surgery

Description:

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.

Treatment:

Other: sample collection

2.1. Undergoing Invasive Procedures (Endoscopy)

Description:

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.

Treatment:

Other: sample collection

2.2. Undergoing Invasive Procedures (Biopsy)

Description:

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.

Treatment:

Other: sample collection