A breast cancer treatment programme pioneered in Cambridge is expanding, helping more patients to get personalised medicine.
Under the programme, patients’ genetic information is read like a barcode and the whole genome of their tumour is sequenced.
Professor Jean Abraham, left, oncology consultant at Cambridge University Hospitals NHS Foundation Trust and professor of precision cancer medicine at the University of Cambridge, with patient Rebecca Sleigh. Picture: CRUK
The DNA and RNA readouts from their tumour cells are then compared with those from their healthy cells to study which genetic mistakes are causing the disease and which weaknesses could be targeted with cancer drugs.
Prof Abraham, oncology consultant at Cambridge University Hospitals NHS Foundation Trust (CUH) and professor of precision cancer medicine at the University of Cambridge said: “The beauty of this sequencing project is we get the data faster and can act on it.
“The benefits are various and depend on the stage of the cancer. If it’s at an advanced stage, the genetic information we get from the whole genome might push us towards a different treatment or you might find a specific mutation that means the patient could take part in a certain clinical trial.
“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. Ultimately, these findings can help direct clinicians to using more novel and targeted drugs that have the best chance of helping individual patients.”
The James Paget Hospital in Great Yarmouth has now become the fifth site in the East of England and the sixth site nationally to adopt the Personalised Breast Cancer Programme (PBCP), following its implementation at Addenbrooke’s in Cambridge, Ipswich, Colchester, Norwich and Oxford.
Since recruitment started at the James Paget in March and the first patient was seen in April, nearly 1,800 patients have been enrolled. They get results within six to 12 weeks.
For many, these results have confirmed they were already receiving the best treatment available but more than a third have had a change in clinical management.
Prof Jean Abraham, who leads the programme from CUH and is based at Cancer Research UK’s Cambridge Centre, said: “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 should a patient relapse. It becomes an armoury of knowledge, and it could reveal weaknesses we can target. That can be very reassuring to patients. In addition, establishing that an individual doesn’t carry any high-risk hereditary genes is a relief to both the patient and their family.”
About 5,700 women and a small number of men are diagnosed with breast cancer in the East of England each year and around 1,100 women in the region die from the disease.
Dr David Maskell, who is overseeing the study at the hospital, said: “We are thrilled to now offer our patients the chance to participate in this exciting project which is at the forefront of genome sequencing for breast cancer, ultimately aiming to develop better cancer treatments and more personalised medicine.
“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 DNA will be analysed from the same routine biopsy and blood tests, meaning that in most cases there are no more tests or appointments than usual and no delays in starting treatment. The results are discussed by a team of geneticists and clinicians, with a report prepared for the patient.
“Longer term, this study may help us to predict which patients will or won’t benefit from a particular treatment. It leads us to much more effective and personalised care which increases survival rates and reduces the side effects of treatments.”
Rebecca Sleigh was enrolled in the Personalised Breast Cancer Programme
Beccy Sleigh, 43, from near Newmarket, took part in the programme at Addenbrooke’s after being diagnosed with breast cancer in June 2017. Her results ensured she received the best possible treatment, which helped her get clear of the cancer in six months.
Beccy said: “I found out through the PBCP that my cancer was linked to a faulty BRCA1 gene. The treatment I received focused on certain aspects of my diagnosis that were specific to me – this is massively important.”
Cancer Research UK scientists helped to discover the impact of faulty BRCA genes 30 years ago, a breakthrough that has revolutionised how BRCA-driven cancers are treated.
Beccy added: “Knowing where my cancer came from can help members of my family in future, whilst it also means I can make informed decisions about my future. I decided to have my ovaries and tubes removed because of the increased risk and not wanting to go through potential treatment again. Without us taking part in these trials, we wouldn’t have all this knowledge to improve cancer survival rates.”
A pilot phase of the PBCP began in November 2016 as a collaboration between Cancer Research UK and Addenbrooke’s Charitable Trust, with more than 250 patients from the Addenbrooke’s Breast Unit taking part.
They were 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.
With £1million extra funding from Cancer Research UK, plus more from The Mark Foundation for Cancer Research, announced in 2018, a further 2,000 patients were enrolled.
Prof Abraham and her team will relocate to Cambridge Cancer Research Hospital (CCRH) when it is built on the Cambridge Biomedical Campus, bringing the lab ever closer to the clinic.
Beccy said: “Having research and hospital space all under one roof is just brilliant. People can get answers sooner, the clinical trials will happen quicker and ultimately patients like me will be in the best place to receive the best care possible.”