WHEN A woman learns that her sister, her mother or her aunt has breast cancer, she does not think, "Thank God. It was not me."
Instead, she thinks, "Oh God. When will it be me?"
She probes her breasts while showering and feels nothing but lumps. Her untrained eyes scan her mammogram, certain that cancer hides in the milkly picture of breast tissue. She sees herself in line for disfigurement, inching forward until it is her turn.
Imagine her great relief when she learns that doctors have
discovered a gene, a microscopic crystal ball, that can reveal whether she is likely to get breast cancer. A bit of blood, an expensive lab test and she will know
Genetic testing can pinpoint the scrambled messages we may have inherited, scrambled messages that can set us up for a range of ailments, including breast cancer. But doctors have not yet formulated their own message for the healthy women who carry these mutated genes.
Which women should ask? When is knowing worse than not knowing? What should she do about what she learns? If breast cancer can't be prevented, what is the point of knowing that you are likely to get it?
Dr. Kathy J. Helzlsouer is director of Prevention Services at the Oncology Center at Johns Hopkins Hospital and is one of the staff physicians at the Breast and Ovarian Surveillance Service, referred to, in an empowered tone of voice, as BOSS.
The clinic opened in 1989, when genetic screening for breast cancer was still six years away. The detailed family histories the staff took then sustained the theory that breast cancer might have a genetic trigger and was not just an unhappy accident. But all they could do was draw a family tree and suggest early and aggressive screenings.
Now Helzlsouer and her staff can give you a picture of the mutant genes -- BRCA-1 and its sibling, BRCA-2 -- for the family album.
But there is still no prevention, no way to fix the gene and no certainty about what to do with that information, only the additional fear than an employer or an insurance company might use it against you.
"A woman who is concerned can come to us for information, and often that information alone is reassuring," says Helzlsouer. "Most women have mothers with post-menopausal breast cancer, and those breast cancers are not inherited."
Inherited breast cancers are caused not by one gene, as Newsweek heralded three years ago, but by mutations in at least two genes and certainly others. But only 5 percent of the breast cancers diagnosed are inherited forms of the disease.
"As you can see, it is a small percentage of women, but for those women, this is very important," says Helzlsouer.
Of the women carrying the BRCA-1 gene, half will have breast cancer by the age of 50, and 85 percent will develop breast cancer in their lifetimes.
Compare that to the rest of the population, where only 12 percent will develop breast cancer in their lifetimes.
Genetic screenings can cost hundreds, even thousands, of dollars. Clearly you don't have it done just because you are having an anxiety attack.
But there are women who should be counseled about genetic testing: women with breast cancer under the age of 30, or women with multiple breast or ovarian cancers among their mothers, sisters or daughters. Ashkenazic Jewish women with breast cancer under the age of 40 or with ovarian cancer at any age should also receive genetic counseling.
"For most women, simply taking the family history will reassure them," says Helzlsouer.
But genetic counseling can have more dramatic results. A woman, fearful because two aunts and a sister had breast cancer, had scheduled a double mastectomy when her insurance company demanded a second opinion.
She came to BOSS, and genetic testing revealed that she did not carry the gene her afflicted relatives carried.
"That did not mean she would never get breast cancer," says Helzlsouer. "There are many other reasons why women get breast cancer. But her risks are now more like those of the average woman, and she canceled the surgery."
The fight against breast cancer seems sometimes to be a looking-glass war.
We can't prevent it. We can pinpoint two of the genes that trigger it but we suspect there are more, and we can't explain why some women with these bad genes never develop it.
Even removing both breasts does not remove all our risk. And we can pass those miscreant genes to our children, and our sons can pass it silently to our granddaughters.
"You can come see us and find out about the test," says Helzlsouer. "That doesn't mean you should take the test. And if you take the test, it doesn't mean you have to have surgery.
L "But we can give you information, and information is power."
The Breast and Ovarian Surveillance Service is located at the Johns Hopkins Hospital Outpatient Center and in offices at Greenspring Station. Both centers can be reached by calling 410-955-4851.
Pub Date: 4/13/97