Why Three Sisters Chose Genetic Testing

The Gauthier sisters and their parents are opting for a highly proactive role in their future health

The Gauthier family, left to right: Joan, Christiane, Yves, Maddie and Emily. Photograph by Bryce Meyer.

In 2005, Calgary elementary school principal Joan Gauthier was floored by a diagnosis of breast cancer.

She knew of no one in her family with cancer. She regularly checked her breasts for little pea-sized lumps like she’d been taught at her doctor’s office, yet her cancer was diagnosed larger than any pea and felt nothing like one.

Still, Joan and her husband, Yves, felt some relief. Genetic tests showed Joan carried no gene mutations that put their three teenage daughters at a heightened risk for developing the same disease.

And so, it came as a shock to the family nearly a decade later when they discovered their daughters could, indeed, be carrying those gene mutations — through their father’s side of the family.

Yves’ sister, following a diagnosis of ovarian cancer, tested positive for mutations in the BRCA 2 gene.

Every human being, male or female, carries BRCA 1 and 2 genes. When there’s a mistake in the instruction of these genes, they lose their ability to help protect the body from developing cancer.

Women with BRCA 1/2 mutations have a 40 to 66 per cent chance of breast cancer — up from 10 to 12 per cent in the general population. The risk for ovarian cancer is also heightened. Up to 46 per cent of women with BRCA 1/2 mutations develop ovarian cancer, depending on the type of mutation, compared to 1.5 per cent in the general population.

Men who carry these mutations also face significantly elevated risks for both prostate and breast cancer.

Yves’ sister’s positive finding meant he had a 50 per cent chance of carrying this mutation. And, if he was a carrier, odds were two of their three daughters were, too.

“So, the decision was made — let’s test me before we test any of our girls. If I didn’t have it, with Joan’s background, we knew it was very unlikely they’d have it,” Yves says.

But he does have it.

And so, on one of their Sunday night dinners in 2014, Joan and Yves informed their daughters — Christiane, 28, Maddie, 31, and Emily, 33 — that they could carry a gene that put them at high risk for the same disease their mom had years before.

Together, the Gauthier girls decided to undergo genetic testing, knowing it was a game of chance as to who had the mutation and who did not.

With their mom, the trio went to the Alberta Children’s Hospital to meet genetic counsellor Stephanie Desmarais at the Hereditary Cancer Clinic. They discussed the chance that the girls carried the gene and what a positive or negative result could mean. The three Gauthier daughters underwent blood tests to look for mutations in the BRCA 1 and 2 genes.

Results showed Emily and Christiane carried the BRCA 2 gene mutation. Maddie did not.

In their family of five, two are without the genetic mutation, one of whom has had breast cancer. The other three carry the gene mutation and it’s likely at least one of them will develop cancer.

Yves wishes that no one in the family was BRCA-positive, but he always knew cancer ran in his family. Now that the risk is confirmed, he takes comfort in knowing that his daughters will be checked early and often.

“That provides a huge measure of comfort. I know that at 30 years old, plus or minus three years, which is the age of our three girls, that they are being checked now. If something comes up, it’ll be detected very, very early. The earlier it’s detected, the better odds you have for a positive outcome,” says Yves, an engineer who has closely followed breast cancer research and outcomes since his wife’s diagnosis.

While it’s not easy for a family to learn that they have this elevated risk, the knowledge helps direct screening in people who have not yet been diagnosed with cancer, says Desmarais. It can be the difference between catching cancer early or late.

“This means there’s something in their control and now they can be very proactive instead of reactive,” she says.

In the Gauthier family, Christiane and Emily have undergone annual mammograms, ultrasounds and MRIs, along with visits to a breast cancer physician every six months in the three years since they first learned of their BRCA status. Maddie, who is still considered higher risk than average due to her mother’s cancer, will start regular screening at 39 years old, 10 years younger than her mom’s age when she was diagnosed with cancer. (In comparison, it is recommended that women have a mammogram every two years beginning at age 50, and speak to their doctor about the risks and benefits of mammography at age 40. See page 18 for more information.)

Yves also follows an aggressive screening program, undergoing regular prostate exams and having had a mammogram.

Hereditary cancers are rare, accounting for five to 10 per cent of all cancers. So genetic testing is reserved for individuals with known risk factors — a family member with one of the gene mutations, families with highly suspicious patterns of cancer, any woman with ovarian cancer, or a woman diagnosed with breast cancer before she’s 35 years old.

Christiane Gauthier, who works in communications for the Alberta Cancer Foundation, says she was surprised to learn this gene was in her family through the parent who has not had cancer. She feels some stress every time she undergoes screening, but takes comfort in the fact that she is being so closely monitored.

“Cancer is a big part of my family’s life and I’ll admit that when my appointments roll around, it brings a level of anxiety with it. But, if they find something, it will be early, and we have the support of an incredible family. I am grateful for that,” Christiane says.

Emily agrees. “Knowing that I’m being checked on four times a year takes the heat off tremendously,” she says.

Maddie says it’s hard not to worry about her sisters, but feels confident that there’s a good chance any cancers will be caught early and treated successfully.

“You’re always waiting for this to develop in some capacity, especially because the statistics with this genetic mutation are so aggressive,” she says. “But I feel confident that they are being set up for the best possible success and that with each passing year, we’re making more advances.”

Last fall, the Gauthiers, a fivesome so close they jump in and out of each other’s sentences, were again rocked by cancer. Joan — who’d undergone a mastectomy, chemotherapy and radiation, followed by five years of hormone therapy medicine after her 2005 diagnosis — was found to have metastases in her lungs and bones. She’s now taking oral chemotherapy for her stage 4 disease.

“My approach to it now is that it’s more like a chronic disease. That’s how I’m choosing to live my life right now,” she says.

At times, her energy has lessened and her immune system is compromised by the chemotherapy, but she feels good and remains active, and she takes comfort in knowing her daughters are being screened based on their risk.

“I was caught off-guard when I was diagnosed the first time in 2005, whereas these girls will never have that surprise. They are being so carefully followed. It’s almost like a gift,” Joan says, adding, “I hope our story encourages high-risk families to talk to their doctor about what kinds of cancer are in their family, and, if it’s appropriate, investigate the possibility of genetic testing.”


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