The breast cancer gene

BRCA-1 versus BRCA-2
We all have BRCA-1 and BRCA-2 genes that repair DNA and control cell division. However, in some people these genes become mutated – or defective – and may not be able to carry out this tumour-suppressing function.

Having the BRCA-1 mutation sends your breast cancer risk sky high – up to an 87 per cent lifelong risk (compared to a seven per cent for women in the general population). Often women with this mutation will develop the cancer at a relatively young age – sometimes in their 30s or 40s. Having either mutation raises prostate cancer risk in men to up to 18 per cent.

However, since BRCA-1 and BRCA-2 are located on different chromosomes, their mutations carry some varied risks; for example, BRCA-2 mutations confer a lower risk of ovarian cancer (up to 25 per cent compared to up to 44 per cent for BRCA-1), a higher risk of male breast cancer and a slightly lower risk of developing cancer in a second breast.

One estimate is that BRCA-1 mutations occur in about one in every 800 people while BRCA-2 mutations are less frequent. The mutations are particularly prevalent among Ashkenazi Jews.

Children of women – and men – who carry the defective gene have a 50-50 chance of inheriting the mutation.

Partners support
Tanya Stella and her husband, Edy, try not to let the topic of her BRCA-positive status control their lives. “="When I need to talk about it, he will listen to me," she says. "It's not hard for him to talk about it anymore, but it is still very scary for him."

Finding out you have a genetic mutation that practically guarantees breast cancer in your future can be terrifying – and not just for you. A woman's partner is often just as emotional as the carrier herself, says Nora Wong, a genetic counsellor at Jewish General Hospital in Montreal. "He doesn't face the cancer risk himself, but still has a bond with his partner," she says.

Tanya stresses that despite her husband's fear, "he's really supportive and would do anything." That's consistent with the findings of researcher Kelly Metcalfe, who did a study on spouses of carriers of the genetic mutations. "They really wanted their wife or partner to do whatever she could do to prevent cancer." If that meant a mastectomy, they were on board; and if it meant removal of her ovaries, leading to the symptoms of premature menopause, they were along for the ride.

Scott, husband of cancer survivor Sheri Ozirny of Beaumont, Alta., assured her: "I'd rather have you than the breasts." When Sheri lost her hair during chemotherapy and felt generally miserable, steadfast Scott handled the kids, the house and her. "He made me feel totally loved," she says. "We had our ups and downs to get through the cancer," says Sheri. "But it made us stronger in our marriage."

Helpful sources:
• Website: Hereditary Breast + Ovarian Cancer Foundation; (514) 482-8174. Raises awareness and provides information about breast and ovarian cancer genes.

• Book: Pretty Is What Changes: Impossible Choices, the Breast Cancer Gene, and How I Defied My Destiny (Spiegel and Grau, 2008). In her book, American author Jessica Queller agonizes over her options after finding out she’s positive for the BRCA-1 genetic mutation.

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