Novel test uses cervical screening samples to detect breast and ovarian cancer

A new revolutionary test for detecting ovarian and breast cancer, which could potentially measure future cancer risk, is being developed by researchers from UCL's Institute for Women's Health.

The research, part of a series of papers published in Nature Communications, is led by Professor Martin Widschwendter (UCL Institute for Women's Health, University of Innsbruck and the European Translational Oncology Prevention and Screening Institute) and is funded by The Eve Appeal and the European Research Council.

The test uses a single sample from routine cervical screening to detect or predict the risk of four cancers, including ovarian and breast cancer and may identify up to 30% more women with a high risk for breast or ovarian cancer than current genetics-based tests.

The research involved assessing samples from over 3,000 women from 15 European centres. The researchers then used cervical screening samples as a surrogate tissue to measure marks on the DNA (DNA methylation) of cervical cells and found that they can be specifically related to whether someone has breast or ovarian cancer.

DNA methylation can be thought of as the 'software' of our cells as it determines how our cells should read and act on instructions in the DNA (the 'hardware'). As people go through life, their environment and lifestyle is constantly updating the 'code' to their software, and so the DNA methylation changes. Some DNA methylation marks can result in undesirable changes to how our cells behave and this can influence disease predisposition, including cancer. These changes to DNA methylation can be present years before the development of a cancer and can be used to monitor a person's cancer risk over time.

The research shows that the WID-Test outperforms a currently used method for determining breast cancer risk by combining information on genetic variants - the current method identified 47.5% of women with breast cancer in the highest risk group, the WID-Test had an almost 30% (29.1) improvement on this and identified 76.6% of these women. Similarly, for ovarian cancer the current test identified 35.1% of women in the highest risk group, while the WID-Test identified 61.7% - over 25% more (26.6).

Further results are due to be published soon on the WID-Test's ability to predict womb and cervical cancer. Together, these four cancers account for more than 50% of all cancers in women in Europe. More than 250,000 European women and people with gynae organs are diagnosed with these diseases each year, and almost 45,000 die from them. The WID-Test could revolutionise cancer screening and allow for a holistic view of future risk of developing these four key cancers, using genetics, lifestyle and environment, from one cervical screening sample.

People found to have a high risk of any of these four cancers could then be offered regular surveillance, risk-reducing surgery, or therapeutics, potentially preventing thousands of people from getting cancer a year.

The team now hopes to test out the new technology in large population trials to see whether the WID-Test does accurately predict cancer before it occurs and do side-by-side comparisons to current tests. Future research will also help determine who the screening could benefit - all women and people with a cervix, or just those known to be at a higher risk (e.g., those with a BRCA alteration).

Professor Widschwendter (UCL Institute for Women's Health) said:"Our studies have taken a completely novel approach and evaluate an individual's risk for more than one cancer by assessing several different epigenetic footprints in a single cervical screening sample.

"The WID-test will look for the footprints on a woman's DNA as she goes through life, recording the track she is taking and whether she is heading towards cancer. The WID-test will revolutionize screening and enable a more personalized approach to cancer prevention and detection, where women will be screened, monitored or treated based on their individual, and changing, risk.

"The results published today show that our tests can out-perform currently available methods and we are looking forward to running trials to validate these initial findings in large numbers of women. We look forward to a future in which cancer screening is driven by better molecular tests that give women the option to take preventive measures at an early stage and journey away from cancer."

The ambition of this research program is to stop cancer before it starts. This could create a step change in screening for key cancers - not detecting them early but preventing them from developing. Creating a new screening tool for the four most prevalent cancers that affect women and people with gynae organs - particularly the ones which are currently most difficult to detect at an early stage - from a single test could be revolutionary."

Athena Lamnisos, CEO, The Eve Appeal

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