Lead: Dr Charlotte Fribbens. Dates: 2015 to 2017. Final spend: £162,500.
Project summary
Dr Fribbens demonstrated that estrogen receptor (ESR1) mutations in patients with metastatic breast cancer can be detected in a simple blood test. The ability to detect circulating cancer tumour DNA in a patient’s blood is a game-changer in terms of diagnostics and treatment.
The group of patients tested were taking hormone therapy, which is very successful in many women with ER positive breast cancer. However, over time, women can develop resistance to the treatment. Dr Fribben’s research aimed to identify the length of time between the first point when ESR1 mutations can be detected and when the cancer progresses. Results showed that ESR1 mutations were found in the liquid biopses in over half of patients who went on to develop resistance to hormone therapy and that the emergence of these mutations can be detected over six months before the cancer progresses sufficiently to appear on a traditional scan. This can potentially be used to identify patients who need more aggressive treatment so alternative therapies can be considered before the cancer worsens. In addition, Dr Fribbens showed that other mutations previously undescribed in breast cancer also develop whilst on hormone therapy. These could also contribute to the resistance and be targets for future research and treatment.
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