Catching Cancer Before It Starts

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Expanding genetic testing criteria may help identify more women at risk of ovarian cancer.
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Genetic variations can be passed down from parents to children. Genetic screening can help identify disease-causing variants so risk-reducing strategies can be taken.

An estimated 1,950 women in Canada died of ovarian cancer in 2020. The most common and deadly type of ovarian cancer is called high-grade serous ovarian cancer (HGSOC), and the greatest risk factor for this disease is a cancer-causing genetic variation inherited from a parent.

Despite evidence that ovarian cancer risk can be passed from parents to children, historically, the majority of women with ovarian cancer never got genetic testing.  Canadian guidelines do not advise first-degree relatives—parents, children and siblings—of a patient with ovarian cancer to receive genetic testing unless there is a strong family history or the person with ovarian cancer themselves tested positive. The high mortality of this disease, paired with low testing rates, suggests that many women may be unaware whether they have a genetic risk for ovarian cancer.

A multidisciplinary team at UHN, led by Clinician Investigator Dr. Marcus Bernardini, Scientific Associate Dr. Alicia Tone and genetic counsellor Jeanna McCuaig of the Princess Margaret Cancer Centre, used two unique approaches for finding and testing women with a first-degree relative who died from HGSOC: a public outreach campaign and a direct recruitment campaign.

The public campaign was conducted over a three-year period. It involved public engagement though television segments, newspaper articles, social media posts, an educational website as well as raising awareness among other health care professionals. This approach was successful and enabled them to engage with individuals from the public that were highly motivated to learn about their potential risk and receive genetic testing.

A direct recruitment campaign was also carried out to contact first-degree relatives of patients previously treated for ovarian cancer at UHN. It was particularly important to reach out to these individuals because if the patient’s ovarian cancer was caused by a genetic variation, the relative has a 50% chance of carrying the mutation.

The rate of genetic variation among participants recruited through both campaigns were similar. A variation on an ovarian cancer risk gene was identified in 6% of women and was more common in those whose relative was younger than 60 years old when they were diagnosed with ovarian cancer.

Of those with the disease-causing variation, 85% underwent gynecologic surgery to reduce the risk of developing cancer in the future; and undiagnosed cancer was discovered in three participants.

“None of the 11 women we identified would have qualified for the genetic testing based on Ontario’s current guidelines,” says Dr. Bernardini. “Our research supports modifying genetic testing criteria to include individuals whose relative was diagnosed with ovarian cancer prior to age 60 to ensure at-risk women are identified earlier.”

This work was supported by The Princess Margaret Cancer Foundation and Ovarian Cancer Canada.

Tone AA, McCuaig JM, Ricker N, Boghosian T, Romagnuolo T, Stickle N, Virtanen C, Zhang T, Kim RH, Ferguson SE, May T, Laframboise S, Armel S, Demsky R, Volenik A, Stuart-McEwan T, Shaw P, Oza A, Kamel-Reid S, Stockley T, Bernardini MQ. The Prevent Ovarian Cancer Program (POCP): Identification of women at risk for ovarian cancer using complementary recruitment approaches. Gynecol Oncol. 2021 Apr 13:S0090-8258(21)00321-8. doi: 10.1016/j.ygyno.2021.04.011.


Dr. Marcus Bernardini is the Division Head of Gynecologic Oncology at UHN and Mount Sinai Hospital, and an Associate Professor at the University of Toronto.