Scientists developing 'revolutionary' test to detect risk of four cancers in women in a single swab

Source: The Guardian

Scientists are developing a “revolutionary” test to predict a woman’s risk of four cancers using a single sample collected during cervical screening.

Using cervical cells from a routine smear test, experts may be able to spot ovarian and breast cancer or predict their likelihood of developing, according to two papers published in the journal Nature Communications. Further results are due on the ability of the WID-test – women’s cancer risk identification – to predict womb and cervical cancer, researchers said.

The test could eventually enable earlier detection of all four cancers in younger women, and even “stop cancer before it starts”, experts said, which would be a “game-changer” for women’s health.

“This could create a step-change in screening for key cancers – not detecting them early but preventing them from developing,” said Athena Lamnisos, the chief executive of the Eve Appeal, which is funding the research with the European Research Council.

“Creating a new screening tool for the four most prevalent cancers that affect women and people with gynecological organs – particularly the ones which are currently most difficult to detect at an early stage – from a single test could be revolutionary.”

Ovarian cancer is responsible for the largest proportion of deaths associated with gynecological cancers. Currently, 75% of ovarian cancers are diagnosed at a late stage, when the tumors have spread. Being able to detect the disease earlier may improve treatment outcomes.

Breast cancer is the most common cancer in women and is usually detected using mammography followed by a biopsy.

“This research is incredibly exciting,” said Liz O’Riordan, a breast cancer surgeon who has herself been diagnosed with the disease.

“At the moment there is no screening test for breast cancer in women under the age of 50. If this test can help pick up women with a high risk of developing breast, ovarian, cervical and uterine cancer at a younger age, it could be a game-changer.”

Researchers used cervical cell samples from 242 women with ovarian cancer and 869 without. They then measured 14,000 epigenetic changes and identified a unique DNA signature that could be used to spot or predict the presence of ovarian cancer.

This enabled them to identify 71.4% of women under 50 and 54.5% of women over 50 with ovarian cancers with 75% specificity. The findings were further validated in an additional cohort of women, where 47 had ovarian cancer and 227 did not.

In the second study, researchers analyzed epigenetic changes in cervical cell samples from 329 women with breast cancer with a poor prognosis and 869 women without the disease. They were able to identify women with breast cancer based on a unique epigenetic signature. The finding was confirmed in a smaller set of samples from 113 breast cancer patients and 225 women without breast cancer.

“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,” said Prof Martin Widschwendter, of the University of Innsbruck and UCL, who is leading the research.

“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.”

In the future, the Eve Appeal said, women could get separate risk scores for each of the four cancers. Those with high scores could be offered more active monitoring, regular mammograms, risk-reducing surgery, or therapeutics, the charity said.

Widschwendter cautioned that further research and large-scale prospective clinical trials would be needed to confirm the tests could effectively predict the likelihood of women developing cancer.

Health minister Maria Caulfield said it was “great to see how this new research could help alert women who are at higher risk to help prevent breast, ovarian, womb and cervical cancer before it starts”. In the meantime, cervical screening remained vital, she added and urged all women aged 25 and above to attend their appointments when invited.