People who join the Personalised Breast Cancer Programme (PBCP), funded by Cancer Research UK and US-based philanthropic organisation The Mark Foundation for Cancer Research, have their DNA read like a barcode, with the whole genome of their tumour sequenced and the results returned within six to 12 weeks to inform treatment planning.
So far, almost 850 patients have been enrolled in the study. For many their results have confirmed they were receiving the best treatment available, whilst over a third have had a change in clinical management.
Following the success of the programme, there are now plans for it to open at up to 10 other sites across the country by the end of 2022. The first of those has opened this month - Breast Cancer Awareness Month - in Oxford.
Cancer Research UK’s Professor Jean Abraham, who leads the PBCP, explained that for every patient on the programme DNA and RNA readouts from their tumour cells are compared with those of their healthy cells to study which genetic mistakes are causing the disease, and which weaknesses could be targeted with cancer drugs.
The results also identify whether the patient has any inherited genetic faults that increase the risk of breast cancer or could cause toxic side effects to chemotherapy.
“The beauty of this sequencing project is we get the data faster and can act on it,” added Professor Abraham. “We have done this for research purposes before, but it took many months and the results weren’t available for patients in a meaningful timeframe.
"We wanted to have an impact now and reduced the timescale to 12 weeks. In fact, on average it’s more like six to nine weeks from receiving the sample to returning the result to the patient in clinic.
"Some tumours have clustered regions of excessive amounts of mutations. These tumours are said to be hypermutated. Hypermutations are thought to respond better to immunotherapy and so we can push for an immunotherapy trial. So, these findings can help direct clinicians to using more novel and targeted drugs that have the best chance of helping individual patients.
“A lot of patients won’t see their treatment plan change, but it might offer hope and faster access to the most appropriate treatment if there’s a relapse.
"Having the genetic information of the tumour will give us a better idea of what to do when a patient relapses, it becomes an armoury of knowledge and it could reveal weakness we can target. That can be very reassuring to patients. In addition, knowing you don’t carry any high-risk hereditary genes is a relief to both the patient and their family.”
Catharine Scott, 54, from Girton, was diagnosed with breast cancer in September 2016 and became the first patient to benefit from the PBCP.
She said: “It was quite a significant tumour, fast growing and grade three. Until that point I’d always thought breast cancer was breast cancer. I hadn’t realised there were different types. That’s why the research into personalised medicine is important, as they’re getting more information about your tumour and what the best treatment is for you. It was a relief to realise.
“This definitely opened my eyes to the importance of research. It’s inspiring when you see it and are involved in it. Somewhere there is a bit of my body being used for research! I had extra biopsies for the research they do on the PBCP. It’s strange to think these samples are being kept or used, but if it’s helping that’s great. If you’re going through something like this you do want to help others.”
The pilot phase of the PBCP began in November 2016. It was a collaboration between Cancer Research UK and Addenbrooke’s Charitable Trust, with over 250 patients from the Addenbrooke’s breast cancer unit taking part and becoming the first NHS breast cancer patients to have whole genome sequencing of their tumour as part of their routine treatment in a clinically impactful timeframe.
A further £1 million of funding from Cancer Research UK, plus more from The Mark Foundation for Cancer Research, was announced in 2018 to enrol a further 2,000 patients.
The programme builds on pioneering Cambridge-based breast cancer research. Personalised, precision treatment will be a key focus of the Cambridge Cancer Research Hospital, a partnership between Cambridge University Hospitals NHS Foundation Trust and the University of Cambridge to build a new specialist cancer hospital.
The new hospital will combine modern NHS clinical space with three new research institutes, including the Institute for Precision Breast Medicine and Breast Research, that will lead the way in advancing precision medicine techniques for breast cancer patients.
Find out more about precision breast cancer medicine in Cambridge:
Listen to this podcast A patient's perspective on the Personalised Breast Cancer Programme by Prof Jean Abraham and patient Catharine Scott
Watch a webinar by Prof Jean Abraham on Precision breast cancer medicine: How is research helping us to treat breast cancer more precisely? that took place on 10 November 2021.