Charlie Fidelman, The Gazette, Thursday, May 29, 2008
Lauren Wolfe of Montreal was 21 and cancer-free when a DNA test revealed she had a high risk of developing breast cancer.
After six years of close surveillance - an appointment every three months with a cancer specialist or for mammogram, ultrasound or MRI - Wolfe got tired of waiting for a cancerous lump to invade her breast.
So Wolfe considered her options and had both her breasts removed, followed by reconstruction surgery. She dealt the cancer a preemptive strike.
The double mastectomy dropped her cancer risk to nearly zero, from 90 per cent.
"It was a no-brainer. I wanted my future children to have their mother a long time," Wolfe, 29, said yesterday.
"It's a question of survival."
Now seven months pregnant, Wolfe said her only regret is not being able to breastfeed.
As an Ontario hospital launched a massive screening research program this month open to all adult Jewish women in the province, Quebec has quietly been testing individuals for inherited breast cancer gene mutations (BRCA1 and BRCA2) common to those of Ashkenazi Jewish ancestry and Quebec families of French ancestry.
Both groups carry founder-effect mutations, so called because they are believed to be traced to a few families from Europe. About five per cent of breast cancer is of genetic origin.
The mutations in the two populations are not found in the same area of the gene, explained Diane Provencher, chief of gynecologic oncology at Notre Dame Hospital, part of the Centre hospitalier de l'Université de Montréal.
Up to 2.5 per cent of the population, or one in 44, carry the mutation.
The benefit of genetic testing is to identify women at high risk of developing breast cancer and hopefully reduce that risk, Provencher said.
But screening for mutations in DNA should not be automatic "like a grocery store service," Provencher warned. "You can't just tell someone, 'You have a genetic mutation.'
"We have to make a concerted effort to make sure we are not harming patients by administering the test ad hoc."
The question remains, what to do with the information?
There's also fear of abuse by insurance companies and employers, genetic counsellor Gail Ouellette said.
Although some women suspect breast cancer may run in their families because a mother, aunt or sister got the disease, it's still a shock when the test comes in positive, she said.
It means the mutation was inherited from a parent. "But when you tell them that the probability that they will transmit it to their children is 50 per cent, that's tough," Ouellette said. "It's one of the worst things."
The perfect treatment option does not exist, said Dr. André Robidoux, who holds the breast cancer research chair at Université de Montréal.
As part of an ongoing research protocol, Robidoux has tested 800 patients of French ancestry and found 40 with genetic mutations.
Not everyone with the mutation will develop cancer. The risk of developing breast cancer by age 70 is up to 87 per cent. Options include surveillance with mammograms, ultrasound and MRIs, drug therapy and surgery.
William Foulkes, director of the cancer genetics program at McGill University Health Centre, whose clinic was one of the first to offer genetic screening for inherited breast cancer, also warned of the downside of widespread genetic testing, for example, for obesity.
"Genetic testing for cancer should be widely publicized, and made publicly available," Foulkes said. "But not everyone who has a headache should get an MRI."
But for Wolfe, knowledge is power when it comes to disease avoidance.
"This testing is so important," said Wolfe, who inherited the mutation from her father. But for her, the risks were even higher, compounded by the fact that her mother also had breast cancer.
"Women have asked me, 'Why do it?' Knowing I have the gene will affect my life. I'd rather know than find out when it's too late."
Screening is good but what's needed is more research into environmental triggers of malfunctioning genes, said Carol Sector of Breast Cancer Action Montreal. "If you're a young woman and your only choice is a double mastectomy, that's a terrible choice."