Deciphering a blessing from a curse isn't always as clear-cut as it may seem. At least that's true for women who have been told that they carry one of the most potentially deadly genetic mutations -- one of the BRCA, or breast cancer genes, associated with an unusually high risk of the disease. While the discovery of the BRCAs are promising -- eventually leading, hopefully, to prevention as medical science advances -- deciding what to do after finding out one has tested positive can be just as difficult as wondering.



"It's taking over my mind," said Deborah Linder, 33, a medical resident at Northwestern University who tested positive.*

For many with high family incidences of breast cancer, the tendency was simply known as "the family curse." Now, at least "the curse" has a name scientists can validate with a term more specific than "family history." But treatment options are varied, and each comes with its own risks.

The majority of those who receive news that they carry the gene opt to have both ovaries removed, which reduces risks of both breast cancer and the often-associated ovarian cancer. About a third have a preventative mastectomy performed, which decreases the likelihood of the disease by ninety percent, and a few prefer to take prophylactic anti-cancer drugs. Still others opt for herbs and natural means of prevention, and even more decide vigilant surveillance is all that's necessary, which can include frequent MRIs (Magnetic Resonance Imaging), mammograms, and sonograms. Yet mammograms and ultrasounds can miss half of cancers in young women, who tend to have denser breasts.

The presence of BRCA1 raises the risk of developing breast cancer anywhere from sixty to ninety percent. An estimated 250,000 American women carry it, though only 30,000 have actually been tested. According to the American Cancer Society, twenty-six percent of new cancer diagnoses are of the breast, and in Texas alone, 2,480 women are expected to die of it this year. Many more will be diagnosed.. In the Lone Star state, breast cancer is the third leading cancer diagnosis, topped only by lung and colon/rectal. Other risk factors, such as obesity, also run high in Texas. Twenty-seven percent of state residents are obese, and new studies on children in Dallas, Austin, and Houston reveal a trend that may still further increase that number.

Such statistics, combined with an overwhelming lack of health coverage -- twenty-five percent of the state as a whole, and twenty-seven percent of its young adults are living without health insurance -- makes facing the issue that much harder for Texan women.

The majority of breast cancer cases, in fact, are not associated with the presence of a BRCA gene. Only five to ten percent are. But still is the possibility of personal risk being almost twice that of non-carriers worth finding out? Is reducing the chance of getting the disease worth losing the opportunity to have children or breastfeed, which, in itself, would decrease the cancers' likelihoods?

"I know the joy that my girls have brought to me," Deborah's mother, a breast cancer survivor, said. "If Deb misses it, she won't know what she missed. But having experienced it, I would never have wanted to miss it." Yet, she, too was torn. "Have the surgery as soon as possible," she told her daughter one day after finding out others in her family were diagnosed at the same age as Deborah.*

The question becomes even more complex when one considers that new treatment options may be just around the corner. While the chances of surviving breast cancer are good if detected early, ovarian cancer, which attacks fifty percent of BRCA1 carriers, is deadly seventy-five percent of the time. A new study, published this month in Clinical Cancer Research, revealed that a protease inhibitor used to treat HIV patients may also be useful in treating drug-resistant cancers, including breast cancer. Marketed under the brand name Viracept, nelfinavir proved to have the most powerful effect on tumor growth of six protease inhibitors in laboratory experiments. The drug is currently in Phase 1 of clinical trials for cancer treatment.

Would young women, then, who have been told they carry the genetic mutation, be wise to wait for better detection and treatment methods? It would seem that the science of detecting the presence of the disease is not nearly as advanced as the science of predicting its possibility. It's impossible to know so early on; only more time (years more) will yield the statistics necessary to determine the success rates for different prophylactic options.

If you ask Dr. Patrick I. Borgen, the director of the Brooklyn Breast Cancer Project at the Maimonides Cancer Center, who has performed several preventative mastectomies, he might advise to say goodbye to a part of the body in exchange for saving a life. "Maybe [BRCA carriers'] grandchildren will have better options, but right now a draconian operation [a preventative mastectomy] is the best thing we can do.

*As quoted in New York Times in "Cancer Free at 33, But Weighing a Mastectomy" on September 16, 2007.