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The breast cancer gene

Read how recent medical research about the breast cancer gene offers new answers about prevention and management of breast cancer.

By Lisa Bendall

Genetic testing
But if, like Tanya, your family tree is riddled with sisters, aunts, grandmothers or a mother who developed breast cancer, you may want to talk to your doctor about whether a mutation might be lurking in your genes.

If there is cause for concern, you would undergo genetic counselling, a service available across Canada, usually with a family doctor's referral. Over the course of often several sessions, a counsellor helps you identify your risks and weigh your options, including whether or not to have the genetic test. "It's important to know what the test can or cannot help you with," says Wong. "It should not be used, for example, to allay anxiety." After all, a negative test result is no insurance that you won't get the disease anyway, and so may not ease your fears.

And while learning you're a BRCA carrier means an opportunity to reduce your risk of getting the disease – a chance to cheat fate, if you will – on the other hand, it's knowledge that carries its own burdens.

Personal Counselling
And that's where more counselling comes in – counselling that is tailored to a woman's age and individual needs, says Wong. A counsellor would not likely push ovary removal on a young, single woman but may discuss this option with a 40-year-old who already has her family. And while a woman in her 40s may need to know about surgical options, another woman in her 70s may only want guidance in telling family members about the mutation.

Sheri Ozirny, 38, of Beaumont, Alta., went through this counselling process and opted to have the genetic test in 2002. She says she wasn’t surprised when she learned she was a carrier. "I cried with my husband when we found out, but I think I'd always known, in my heart."

Sheri was in excellent health at the time, but breast cancer was rampant in her family. She was just 12 when her mom died, and she lost her aunt and grandmother to breast cancer. A cousin is currently sick, and three other relatives have tested positive for the mutation. Sheri's daughters, aged eight and 10, are too young to be tested, but their chances are 50-50 that they are carriers as well. (There's no pressing medical reason to test children, so it isn't generally done. But by their early 20s, they will likely have the maturity to make personal decisions based on the test results.)

Back in 2002, when she was living in Newfoundland, MRI screening wasn't available to Sheri, who currently lives near Edmonton (MRI availability varies by region) so she couldn't rely on these scans to monitor and detect a tumour. She didn't hesitate. She decided to have both breasts removed just months after learning her test results. "At the time, I didn't feel that there were any other choices," she says.

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