On March 5, Lois Mayer did what would seem nearly unfathomable to many women: She had the tissue from her two healthy breasts removed. And she couldn’t be happier.
Breast cancer first entered Mayer’s life in 1971 when her mother was diagnosed at age 48, and was treated successfully with a mastectomy.
It reappeared in 1999, when Mayer’s then-22-year-old daughter had a benign lump removed.
And it returned with a vengeance in February 2000, when the 51-year-old Mayer was herself diagnosed with cancer in her left breast. A lumpectomy, chemotherapy and radiation followed, and Mayer, a senior research specialist at the University of Illinois-Chicago’s School of Public Health, went on with her life. But she was still plagued with worry.
News of a breast cancer gene had come to her, and it was accompanied by tremendous anxiety. Did she have the gene? If so, could she survive its gruesome odds: up to an 85 percent increase in risk?
Mayer was tested for the gene. The test came back positive. Although the majority of women with the same test result opt for less drastic measures, Mayer chose the only procedure that afforded a virtual guarantee that she would remain breast cancer free–prophylactic mastectomy, or the removal of a healthy breast to reduce cancer risk.
“How could I not do it? I wish I had known about this option at the beginning,” she said. “It would have made a world of difference.”
Though the concept of prophylactic surgery first surfaced in the 1960s, the discoveries of two distinct gene mutations, BRCA1 and BRCA2, in the early 1990s were watershed moments in the breast cancer field. These breakthroughs provided breast surgeons and oncologists with the first inkling that the disease might be beatable at the genetic level.
Everyone–female and male–has BRCA (breast cancer) genes. Also called tumor suppressor, or policeman, genes, they scavenge the body at the cellular level for damaged DNA, gobbling it up before it causes trouble. But should these genes mutate–via heredity, environmental insult, or the normal wear-and-tear of everyday life–undesirable cell multiplication can proceed unchecked, and the risk of breast cancer or ovarian cancer is significantly increased.
Conventional estimates place a woman’s lifetime breast cancer risk at about 13 percent. In women with a BRCA mutation, that risk jumps significantly, to anywhere from 36 to 85 percent. Recent research from the Journal of the National Cancer Institute suggests this oft-quoted 85 percent figure may be inflated, a result of study samples made up of women mainly from high-risk families. Regardless, most experts believe that a mutation dramatically ups a woman’s risk. The mutation also increases ovarian cancer risk. While the general population bears a 1.7 percent risk for ovarian cancer, women with the BRCA mutation face a risk from 16 to 60 percent.
Although prophylactic mastectomy offers a dramatic reduction in breast cancer risk for women with the mutated BRCA gene, it has its detractors who cite a lack of clarity in criteria for its use, a small residual risk of breast cancer, and the potential emotional and social ramifications of electing to remove healthy breast tissue.
In 1999, a landmark study from the Mayo Clinic demonstrated a 90 percent reduction in breast cancer in high-risk women following prophylactic mastectomy. Such dramatic results, however, were tempered by the fact that, of the 639 subjects, it was likely that just 20 of them would have died from breast cancer without the surgery.
Dr. Susan Domchek, a medical oncologist at the University of Pennsylvania Cancer Risk Evaluation Program, said women must take the time to balance their options. “Many, many women would need to undergo surgery to prevent one death from breast cancer,” she said.
Nonetheless, for these women, the idea of removing healthy breast tissue in exchange for a virtually guaranteed clean bill of breast health is worth the statistical risk.
“I almost feel greedy because my risk now is lower than the average woman walking the streets,” said Mayer, who also had a total hysterectomy to reduce her odds of developing ovarian cancer. Besides the psychological relief, Mayer said the physical change has been manageable too.
“Throughout the summer months, I never once felt self-conscious, no matter what I wore,” said Mayer, whose reconstructive surgery was successful on the right breast only; radiation damaged the skin on her left breast too extensively. “Padded bras, water-filled-bras, are the in thing now.”
Three options
Dr. Loren Schechter, a plastic and reconstructive surgeon and a clinical associate in surgery at the University of Chicago, said prophylactic mastectomy typically employs a total mastectomy technique, meaning the breast tissue, nipple and areola are removed, but the skin and lymph nodes are spared. Breast-feeding ability is lost, as is erotic sensation in the nipple, which may later be reconstructed from inner thigh skin or created with a tattoo.
Depending on the woman’s breast reconstruction decision, three primary options exist: the transverse rectus abdominis muscle flap, which uses tissue from one’s own body; implants; or a combination. The TRAM flap uses skin and tissue from the lower abdomen to reconstruct a breast mound, translating into a reconstructed breast that’s more natural in appearance and feel, Schechter said.
Breast implants can be filled with saline or silicone. (The Food and Drug Administration allows silicone only for reconstruction purposes.)
A majority of women choose immediate reconstruction, Schechter said, although delayed reconstruction is also an option.
“The goal of breast reconstruction,” he said, “is to restore a woman’s self-esteem, self-confidence and body image.”
Physical appearance aside, perhaps prophylactic mastectomy’s most significant advantage is in dramatically reducing anxiety levels.
Tricia Marrapodi, 34, of Tucson, Ariz., underwent bilateral prophylactic mastectomy at age 27, when her identical twin sister was diagnosed with breast cancer. Their mother had been diagnosed at 42 and a great-grandmother had succumbed to the disease. Marrapodi says the freedom from fear afforded her by the mastectomy trumped any concerns–body image, surgical or otherwise.
Dr. Patrick Borgen, chief of the Breast Service at Memorial Sloan-Kettering Cancer Center in New York, followed 1,200 women who had undergone prophylactic mastectomy–or “risk-reducing mastectomy,” as some call it–for six years postsurgery. Results from this National Prophylactic Mastectomy Registry, he said, were optimistic.
One of the most significant clinical pearls gleaned from the registry: Less than 5 percent of women reported regret over their decision.
“The majority said, `I wish I’d had it a long time ago–I worried for 10 years,'” Borgen said. “It was like removing this Damocles’ sword that was hanging by a thread over their head.”
`Walking time bomb’
For Jean Rettura, 48, a Long Island teacher whose mother and grandmother were both diagnosed with breast cancer, that sword finally dangled too low when she felt a lump in her right breast at age 31.
“It was like `Oh, here it is,’ like I waited for it all my life,” she said of the cancerous mass, which she treated with a modified radical mastectomy in 1986. “I was a walking time bomb.”
Rettura said the choice to go ahead and remove her other breast and her ovaries crystallized in 1999, when she decided to undergo genetic testing and her father died from stomach cancer.
“I think I decided the day I found out I was [BRCA] positive,” Rettura remembers of the test. “I said `Let’s do it.'”
In 2000, Rettura had her left breast removed, as well as her ovaries, prophylactically. When the doctors were looking at the tissue they had removed, they spotted suspicious looking areas of the healthy breast, which likely would have turned into cancer.
“I feel very lucky,” Rettura said of her newfound peace of mind. “Today, we know how precious life is. I’ve [already] lived nine years longer than my mother did. Each day is a bonus. I’m a survivor.”
To be sure, alternatives to prophylactic mastectomy exist, with many more women electing not to have this procedure than to have it, Domchek said. Some women who test positive for the mutation opt for close surveillance, getting yearly mammograms as early as age 25 and a clinical breast exam two to four times a year.
Another option is chemoprevention–using medicine to starve the tumor of estrogen. However, Borgen said research indicates 80 to 85 percent of BRCA1 and 2 mutation carriers develop breast cancers that don’t respond well to chemoprevention.
No one needs to spell out the magnitude of the decision to undergo prophylactic mastectomy, experts say. Acknowledging the enormity of the decision, Borgen said surgeons should serve as facilitators, helping women sift through the daunting choices.
“It’s a woman’s right to control her destiny,” he said. “No surgeon wants to build the future of breast cancer prevention on the removal of healthy breast tissue, but right now it’s the best card we have to play.”
Says Schechter: “Patients will ask `Will my risk of developing cancer be zero?’ The answer is no. If they ask, `Of all my options–chemoprevention, close surveillance–will my risk be lowest with prophylactic mastectomy? The answer, today, is yes.”
Lastly, Domchek said, it is crucial that women feel confident and comfortable in this intensely personal decision, and remember that “those who opt not to have prophylactic mastectomy–even those at highest risk–have made an equally `correct decision.'”
Choices based on education
Those who should consider testing for a BRCA mutation are women with two or more relatives on the same side of the family who have had breast or ovarian cancer; women who have been diagnosed themselves with breast or ovarian cancer at an early age (premenopause); women of Eastern European Jewish, or Ashkenazi, ancestry; or women diagnosed with bilateral cancers (cancer in both breasts or both ovaries), said Shelly Cummings, a genetic counselor and assistant director of the Cancer Risk Clinic at the University of Chicago Hospitals.
Women contemplating testing generally meet with an expert to discuss risk factors and create a three-generation family pedigree, Cummings said. The test itself requires one tube of blood. Results take about a month and should be given in person.
Testing for BRCA mutations can be emotionally trying, regardless of the outcome. If results are positive, a woman faces an uncertain future, and must navigate a complex range of treatment or prophylaxis options. However, proponents say, she will be armed with the knowledge that she is at increased risk and can act proactively, perhaps enrolling in cutting-edge clinical research.
One potential downside: Should a mutation be found, it may provide information about relatives who may have chosen not to be tested.
Some people are so concerned about genetic discrimination from health insurers or employers, Cummings said, that they choose to pay the $2,700 testing fee out-of-pocket. However, she emphasized, these fears are often overexaggerated, and federal and state laws exist to protect people from this type of discrimination.
Lois Mayer remains a staunch advocate of genetic testing, and is working to persuade her daughter and sister to have it done. Her niece did and tested negative. “We have the ability to make these choices based on a very educated approach about our bodies,” Mayer said. “I never once looked at this like it was a black hole. It was more like `OK, what do we do now?’ I did it for my kids, my family, for the future of medical research. In retrospect, I couldn’t be happier with what I’ve done.”
–Leslie Goldman
Ovary removal another option
According to new evidence presented at the annual meeting of the American Society of Clinical Oncology in May, women with BRCA mutations may be able to reduce their odds of developing breast cancer–and even avoid a prophylactic mastectomy–by opting for removal of their fallopian tubes and ovaries. The procedure, called salpingo-oophorectomy, is thought to lessen risk by decreasing estrogen in the body, essentially starving estrogen-dependent tumors in the breast.
The research, from Memorial Sloan-Kettering Cancer Center in New York, followed 170 women with BRCA mutations for an average of two years. Ninety-eight women elected oophorectomy: Of them, three breast cancers and one cancer of the peritoneum (abdominal lining) were diagnosed. Of the remaining 72 women who declined oophorectomy and chose surveillance, eight breast cancers, four ovarian cancers, and one peritoneal cancer were diagnosed. According to the research, this indicates oophorectomy was associated with a 75 percent decreased risk of breast and ovarian cancer.
Some doctors believe oophorectomy may be less physically and emotionally traumatic than removal of both breasts.
“They could probably leave the hospital on the same day and they wouldn’t have any physical body image change,” said Dr. David Preskill, an obstetrician/gynecologist at Condell Medical Center in Libertyville who supports further exploration of the procedure. Most oophorectomies, he said, can be done laproscopically through a series of tiny incisions in the lower abdomen.
Preskill said a woman must be premenopausal to enjoy oophorectomy’s protective benefit, and that side effects like hot flashes and vaginal dryness could be unpleasant.
To increase awareness of the procedure, particularly among Ashkenazi Jewish women (1 in 40 have the mutation,) Preskill will be speaking about oophorectomy at North Shore Congregation Israel in Glencoe in December. For more information, call 847-362-0100.
–Leslie Goldman
