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Plasma ESR1 mutations & the treatment of estrogen receptor positive advanced breast cancer

Dr Charlotte Fribbens. Dates: March 2015 to September 2017. Final spend: £162,500.

Project summary 

Dr Fribbens looked at the presence of estrogen receptor (ESR1) mutations in patients with metastatic breast cancer who are taking hormone therapy. This type of treatment is very successful in many women with ER positive breast cancer but, over time, women can develop resistance to the treatment. This 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 are found in over half of patients who develop resistance to hormone therapy, and the emergence of these mutations can be detected over six months before the cancer progresses. This could potentially be used in the future so alternative treatments could 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 could be targets for future research and treatment. 

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