Problem addressed, background and strategic significance

Bowel cancer is the second commonest cause of cancer death in the United Kingdom, with over 16 000 deaths a year. The death rate has fallen significantly in the past 40 years, due to improvements in screening, diagnosis and treatment. Most patients have surgery, with some also requiring chemotherapy and radiotherapy. However, where cancer has spread to other organs, there are very few treatment options and survival is low.

The development of a new type of therapy, immunotherapy, which boosts the immune system to help the body destroy cancer cells, has offered a potential avenue of hope. Currently, only a small proportion of patients with bowel cancer are treated with immunotherapy. These patients have genetic markers that show a high immune response to cancer. We will study the differences in how the immune system detects cancer cells, and compare these to genetic changes. We can then identify genetic markers that suggest good responses to immunotherapy, and expand the number of patients who could benefit from this treatment.

Method(s) used

The 100 000 Genomes Project is collecting genetic information from people with cancer and rare diseases. We will study patients with bowel cancer enrolled in this project and investigate the effects of differences in patient’s immune systems and the genetic changes that occur in tumour cells on the response to bowel cancer. We will also grow tumours in the laboratory and study methods to increase the immune response to cancer treatment

Hoped for results of this research

We aim to discover new genetic and tumour markers in bowel cancer that can be targeted by immunotherapy. This will enable us to develop clinical trials of immunotherapy targeting a wider patient group than is currently eligible for this treatment.

What this research is expected to add to the knowledge of bowel disease and what is the impact you hope to achieve for people?

This will be a major advance in the understanding and treatment of bowel cancer, contributing to the development of personalised treatments of cancer based on specific assessments of genetic markers. It will open a new treatment option to many patients with bowel cancer and help to save lives.