Breast and ovarian cancers affect thousands of women in the EU each year. While recognised treatments are in place, robust testing capable of achieving early diagnosis and prescribing personalised treatment could save thousands more lives.

Tailored screening for better results

This is the aim of the EU-funded project EPIFEMCARE, which ends in April 2016. The project is currently developing new methods for the early detection of these two cancers – and for introducing more personalised cancer care.

“The project is developing blood tests for the early detection of ovarian cancer as there is currently no screening programme in place,” explains project coordinator Martin Widschwendter of University College London, UK. “By detecting the characteristic fingerprints of tumour DNA in blood, these tests will enable the diagnosis of ovarian cancer without invasive surgical procedures.”

Breast cancer screening with mammography is offered in many EU countries, and is effective at finding tumours. Recent evidence, however, suggests that it leads to over-diagnosis and therefore unnecessary treatment.

“EPIFEMCARE’s blood tests will improve breast cancer screening by detecting aggressive tumours more effectively, ensuring that fewer women receive needless medical intervention,” says Prof Widschwendter.

These blood tests are being developed using the emerging science of epigenetics, which literally means ‘on top of’ or ‘in addition to’ our genes. Epigenetic changes can control whether our genes are switched ‘on’ or ‘off’, and erroneous epigenetic events are very much a feature of cancer.

As a tumour grows, it releases DNA into the blood and this can be collected and analysed. EPIFEMCARE is identifying patterns characteristic of DNA from a tumour, and is using these as markers indicating whether a person might have breast or ovarian cancer.

“The project has made excellent progress,” says Widschwendter. “We have identified initial panels of markers in breast and ovarian cancer tissue and these are currently undergoing further testing.”

Importance of personalised care

Breast cancer is the most common cancer in women in the EU, with more than 464 000 found to have the disease in 2012 in Europe. Ovarian cancer, while far less common, is often discovered at an advanced stage; more than 60% of ovarian cancer patients die within five years of diagnosis. In both cases, cancer management relies on surgery, chemotherapy or radiotherapy, or a combination to ensure no cancerous cells remain.

“Chemotherapy is prescribed for all women with disease, but each woman will differ in her response to treatment,” says Widschwendter. “It is currently not possible to predict which women would benefit most from receiving which drugs. As every woman is an individual, it makes more sense to attempt to personalise their treatment where possible. This will be made possible with EPIFEMCARE blood tests.”

The project has so far collected more than 1100 blood samples from patients. The team has had to overcome the challenges of working with extremely small quantities of DNA – nanograms rather than micrograms more typically available in genomic analysis – and the complexities involved in studying epigenetic tags on the DNA.

The end result will be a proven screening method that will reduce the proportion of ovarian cancer cases diagnosed at a late stage and the number of women treated unnecessarily for breast cancer.

October- Breast Cancer Awareness Month