Exploring the Landscape of Somatic Mutations in Human Tissue

Exploring the Landscape of Somatic Mutations in Human Tissue

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.

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