Improving diagnosis and treatment of cancer in Ataxia-Telangiectasia patients through whole genome sequencing
Research Project information
Principal researcher: Dr Ramsay Bowden
Institute: University of Cambridge
Cost: £19,960 over 6 months
Start Date: 1st of November 2024
What are the researchers proposing to do?
This project aims to answer key questions in the diagnosis and treatment of cancer in people with A-T. All cancers have genetic changes, which make them behave differently to normal tissues. By studying the complete genetic code of tumour samples from A-T patients we will explore why people with A-T develop cancer. We will look at whether genetic changes identified in cancer samples can help doctors decide how best to treat the cancer. We will also look at blood samples from people with A-T to try to identify genetic changes in the blood. We will explore whether these genetic changes may be useful in developing a blood test to detect cancer in people with A-T.
Why?
People with A-T have a high risk of developing cancer. Cancers are commonly diagnosed at a late stage and doctors are often unsure how best to treat them. This project will study the genetic basis of cancer in A-T to develop tools that will help doctors diagnose, treat and monitor these cancers.
How will the research be done?
Dr Bowden and her team will work with doctors looking after people with A-T to collect cancer biopsy samples for genetic investigations. They will use a technique called whole genome sequencing (WGS) to study every letter in the genetic code of these samples and compare this to the genetic code of non-cancer samples. They will also invite people with A-T with and without cancer to provide a blood sample and will look for any genetic changes in this blood which may be linked to those found in cancer samples.
How could it make a difference in the lives of those affected by A-T?
Understanding the genetic basis of cancer in people with A-T will help doctors make better decisions about cancer treatment. It will guide them on what treatments are most likely to be effective for improving survival. It may also suggest which treatments should be avoided because of side effects, or because they are unlikely to be effective.
Identifying genetic changes in blood may help to develop a blood test to monitor cancer treatment without needing repeated biopsies. It is possible that genetic changes will be found in blood that can be used in a blood test for early diagnosis and cancer screening. When cancers are diagnosed at an earlier stage the outcomes are generally better.
This study is unlikely to provide immediate benefits for participants going through their own cancer treatment, but will hopefully improve cancer diagnosis and treatment for individuals with A-T in the near future.
Any questions on the study can be directed to the chief investigator Dr Bowden arb63@cam.ac.uk
