Maria's Mission Sheds Light on Genetic Testing

When Maria Mazzotta was diagnosed with terminal ovarian cancer in 2014, she did something remarkable
and incredibly unselfish. Maria was seen in the Genetics Program at Lakeridge Health and chose to have genetic
testing to see if her cancer might be hereditary.

"When Maria came to us to get her results, she was clearly not feeling well," said Deborah Verbaan, a Senior Genetic Counsellor at Lakeridge Health. The results revealed that she had a BRCA1 gene mutation.

"Most people when they are at that stage in their illness, their focus is on their own health and that's understandable. But Maria put all of her energy into reaching out to her family before her death last May, to ensure that they were tested and had more options. That's really incredible."

"Maria was a very bright and outspoken individual and she made it her mission to encourage everyone in her family to be proactive and come in for genetic testing," adds her cousin, Emilia Radovini.

Maria's mission extended beyond Durham Region to Montreal and even Europe where she convinced many of
her relatives, both near and distant, to get tested. So far, nine members of Maria's family, including Emilia, have
been tested at Lakeridge Health.

"I call her my lifesaver," says Emilia who discovered she also had the BRCA1 gene mutation. A year ago, she underwent a complete hysterectomy to reduce her risk of developing ovarian cancer.

Emilia's next big decision will be whether or not to have a bilateral mastectomy to reduce her risk of developing breast cancer.

"Some members of my family didn't have the testing because some of them didn't want to know. But I saw it the same way as Maria. I saw it as choices, more knowledge," said Emilia. "This is preventative. There is something I can do about it."

(Pictured top right (l to r): Emilia Radovini and Deborah Verbaan look at her family's gene map. Pictured right (l to r): Emilia and Maria.)

What is a Cancer Previvor?

"We call people like Emilia cancer previvors," adds Deborah. "Cancer previvors are individuals who are living with a predisposition to cancer but who haven't had the disease."

This group includes people who carry a hereditary mutation, a family history of cancer or some other predisposing
factor. The term was chosen to identify those living with risk, she explains. "Cancer previvors are using genetic testing as a tool to make informed decisions that can reshape their entire future health."

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