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The breast cancer gene

By Lisa Bendall

Read how recent medical research about the breast cancer gene offers new answers about prevention and management of breast cancer.
Tanya Stella's difficult decision
This story was originally titled "Living with the odds" in the October 2008 issue. Subscribe to Canadian Living today and never miss an issue!

Pam Bagg showed remarkable strength during her long battle with breast cancer, which began in 1998. She stayed positive and never spoke of dying. But the day she learned that her daughter, Tanya Stella, had inherited the same genetic mutation that caused the cancer, Pam broke down and cried.

"She was devastated," remembers Tanya, 34, from her home in Prince George, B.C. "She kept saying, 'I'm so sorry.'"

Inherited breast cancer accounts for five to 10 per cent of all breast cancer cases in Canada. This gene-based disease is merciless, often striking young women particularily hard. Luckily, ongoing research is turning up new answers about prevention and management.

By the time Tanya learned of her genetic status, her aunt and great-aunt had already died of breast cancer, and her mom was fighting hard for her life. Since Pam had passed her mutated gene to her daughter, odds were that Tanya, too, would one day develop breast cancer. She would also face an elevated risk of ovarian cancer.

Pam died last year at the age of 53, but not before making Tanya promise to do whatever she could to optimize her odds of beating cancer.

A difficult decision
Tanya had a difficult decision to make: Have both breasts removed to drastically reduce her chances of eventually developing cancer (the operation is called bilateral prophylactic mastectomy), or undergo rigorous, twice-yearly screening of her breasts and ovaries, a procedure involving MRIs, mammograms, ultrasounds and Pap tests.

For now, Tanya is sticking with the screening approach, but she expects that one day she will choose to have both breasts removed. She'll only make that decision, though, when she's emotionally and psychologically ready; choosing to lop off your still-healthy breasts is not a decision to be taken lightly. "It's a really private, personal choice," says Tanya.

Having to make such gut-wrenching decisions is a relatively new dilemma. It all centres on detection of a mutation in either the BRCA-1 or BRCA-2 genes (see page 5). The discovery of these mutations in the mid-1990s was a pivotal point in breast cancer research. "Over the years, we identified a lot of families in which there seemed to be too many cases of breast cancer," recalls Dr. Steven Narod, director of the Familial Breast Cancer Research Unit at the Women’s College Research Institute in Toronto. Narod was part of the original research team that collected blood samples from these families – a huge step towards solving the genetic puzzle.

Today, many women want to know if they carry one of these genetic mutations. That's understandable since most have a friend or family member who has been diagnosed with breast cancer, or died because of it.

Fortunately, the majority of women don't carry these mutations. "In most cases, we don't know why people develop breast cancer," says Nora Wong, a genetic counsellor at Jewish General Hospital in Montreal. Having a great-aunt with the disease doesn't mean you're doomed to the same fate. Similarly, finding out you don't have a mutation is no guarantee that you will never get cancer.

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  • Keywords : women's health , prevention

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