With a family history of breast cancer, a Vancouver nurse did what a growing number of women who run the risk of the disease are doing: She had both her breasts removed.
By Deborah Jones
Vancouver -- LAST year, Betsy Lewthwaite, then 43, had a doctor surgically remove both her breasts even though she was perfectly healthy. She wanted to stay that way.
In 1992 her older sister Alice died from breast cancer at age 42; Alice's twin, Mary, was diagnosed in 1994 (her cancer is now in remission). Ms. Lewthwaite felt that the removal of her breasts would go a long way toward removing her 80-per-cent risk of getting cancer. And she's not alone. A growing number of women who run a hereditary risk of getting breast cancer are contemplating the same extreme measure.
Today, the Vancouver-area psychiatric nurse, whose husband and two young children supported her decision, says she has no regrets -- though she worries that her 10-year-old daughter and other female relatives who run a risk of getting hereditary cancer will have to grapple with the issues associated with hereditary breast cancer one day.
Doctors have long known that women with a strong history of breast cancer in their family are at higher risk of developing cancer. But only in recent years have geneticists identified two genes, BRCA1 or BRCA2, which when mutated place women at a much higher risk of both breast and ovarian cancers. That women can now identify whether they are at risk through genetic screening and respond with such radical surgical measures has caused great concern among doctors and ethicists. And in the future, as screening becomes available for a host of diseases and conditions, making pre-emptive strikes to forestall disease will surely increase.
BETSY Lewthwaite's genetic odyssey began in 1994 when her second sister, Mary, phoned to tell her she had been diagnosed with breast cancer. Ms. Lewthwaite decided on the spot to have her breasts removed. Her doctor, however, insisted she undergo genetic counselling "to make sure I was not some whacko wanting my boobs cut off."
Karen Panabaker, a geneticist at the B.C. Cancer Agency in Vancouver, investigated Ms. Lewthwaite's family history and learned that several women on her paternal side had developed breast or ovarian cancer in their 20s, 30s and 40s. One of the signposts that indicate a hereditary risk of breast cancer is to develop the disease before the age of 50.
"Our family was never looked at as a breast-cancer family. Until recently, doctors thought breast cancer was passed down through only the mother's side," says Ms. Lewthwaite. "All the signs were there [on my father's side], but until I went to Karen Panabaker and she laid out the family tree, nobody had looked at the big picture."
From that analysis of family history, Ms. Lewthwaite's risk of getting genetically related breast cancer was estimated at 80 per cent (compared with 11 per cent in the general female population). It was enough to convince her, despite widespread misgivings by doctors about the efficacy of bilateral prophylactic mastectomies, to proceed with surgery.
A study this spring lends support for Ms. Lewthwaite's decision. Dr. Lynn C. Hartmann of the Mayo Clinic followed the cases of 950 women who had bilateral mastectomies between 1960 and 1993 (before genetic screening became widely available). Her research suggests that mastectomies can reduce by 91 per cent the risk of cancer in women with genetic predisposition to breast cancer.
However, it is impossible to remove all breast tissue, no matter how skilled the surgeon. Ms. Lewthwaite continues to monitor her remaining tissue for lumps. She also has an annual ultrasound to detect early indications of ovarian cancer.
Since Ms. Lewthwaite had her breasts removed, about 30 members of her family have become involved in a national survey of genetic breast cancer. Researchers, including Steven Narod of Montreal, a co-discoverer of the so-called breast-cancer genes in 1994-95, tested the blood of select families, searching for the presence of mutated versions of the genes BRCA1 or BRCA2. The results are now in.
Her family does indeed carry the mutated BRCA1 gene. Ms. Lewthwaite says her female relatives must now decide if they want to know whether they carry the mutated genes (not everyone who has the gene has it in its mutated form). In the case of her 10-year-old daughter, Ms. Lewthwaite says that for now she will draw on the growing body of knowledge about alleviating cancer risks through diet, exercise and other lifestyle measures.
Ms. Lewthwaite has no qualms about knowing her genetic fault lines. "If you come from an at-risk family, women can start breast self-exams and mammograms quite young. If you're aware of the risk, you'll probably change your lifestyle. Having the knowledge is not a 100-per-cent cure but it is a help, and it makes you pro-active in your own life. I watched my sister die of cancer and that's as ugly as I want to see."
While Ms. Lewthwaite's decision was an entirely personal one that so far has stood her in good stead, ethicists have grave concerns about the impact of genetic screening for the population.
Arthur Schafer, professor of ethics at the University of Manitoba, warns that, "If you discover when you're 18, before you marry or have children, before you are employed, before you have insurance, that you're one of the 5 per cent or whatever it turns out to be that has the breast-cancer gene, you may become unmarriageable, uninsurable, unemployable. Your own sense of self worth may be damaged, and you may be confronted with some ugly choices. Since we can't offer a cure, or even very effective intervention for people with whatever gene is in question, the knowledge itself could be highly prejudicial to the person who acquires it."
Genetic counselling because of a family history of disease is available throughout Canada. Screening for mutated genes, restricted to women whose families have a strong history of breast cancer, is just beginning in most provinces.
Dr. Karen Gelman of the B.C. Cancer Agency points out that breast-cancer patients with the genes BRCA1 and BRCA2 account for only 5 to 10 per cent of women who develop breast cancer. The causes of the vast majority of cases are still unknown. She stresses that "although we know persons [with the genes] are at a higher risk of getting cancers, we don't yet know if additional screening, mammograms or pelvic exams will be effective."
Dr. Schafer points out that little research has been done on the psychological implications of knowing one's genetic risk of disease. "Some think it would be like living ones' life under the sword of Damocles," he says. "I think we should go ahead with testing but we need careful regulation, so people who test positive do not become part of a genetic underclass. We have to protect them against discrimination in employment, education and provide access to counselling."
What impact would testing have had on Betsy Lewthwaite if it had been available to her earlier? "I still would have had children. It's not an absolute death sentence," she says with confidence. And now, what about the impact of the knowledge on her daughter?
"Once in a while my daughter will ask, 'Am I going to get it?' I say, 'Honey, you know there's a possibility -- and to know makes you safer."
Deborah Jones is a contributing editor to Chatelaine and Report on Business Magazine.
A DEADLY GAME OF CHANCE
The presence of mutated breast-cancer genes BRCA1 and BRCA2 account for five to 10 per cent of breast cancer. The role played by environmental and other factors in development of cancer, in women with or without the genes, is largely unknown.
A person with a mutated version of the BRCA1 or BRCA2 genes has a 50-per-cent chance of passing it on. Even with a mutated version of the gene, the person may not develop cancer.
The lifetime risk with BRCA1 is estimated at 85-90 per cent for breast cancer and 40-65 per cent for ovarian cancer. Risk factors associated with BRCA2 are not yet known. The lifetime risk of cancer for women in the general population is 11 per cent for breast cancer and 1 to 2 per cent for ovarian cancer.
Copyright Deborah Jones 1997
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