Cancer’s legacy
Breast CANCER has crept its way through Lisa Lujan’s life like an insidious, destructive weed. Her oldest sister was diagnosed at age 35 and again at 50.
Her mother was diagnosed at age 72 and had a mastectomy.
Her second sister was diagnosed at age 44 and died in 2005 at age 48. Over the years, seven relatives on both her mother’s and father’s sides of the family have been stricken with breast cancer.
After her sister died, Lujan, 47, couldn’t put it off any longer -- the Santa Ana woman had to know if she carried a gene that increased her risk of the disease.
Like Lujan, Americans haunted by a family history of breast, ovarian and prostate cancer are increasingly choosing to end the uncertainty over their personal risk. Last fiscal year, 70,000 people were tested for gene mutations linked to breast cancer -- up from 20,000 in the previous year, says Myriad Genetics Inc., a Salt Lake City biopharmaceutical company that conducts the majority of breast cancer genetic testing in the United States. But families and individuals armed with genetic information may find they have replaced one problem -- not knowing -- with another: what to do about it.
Lujan underwent genetic counseling and testing at St. Joseph Hospital Cancer Genetics Program in Orange, and the results confirmed her suspicions. She carried the BRCA1 gene, one of the two most prevalent genes linked to breast cancer (the other is BRCA2). That genetic mutation increased her lifetime risk of breast cancer from 13%, which is the average risk for any woman, to 85%. Her risk of ovarian cancer soared from less than 2% to 50%.
In April, she had surgery to remove her ovaries -- although they were still cancer free.
The family’s battle may not be over. Although Lujan’s eldest daughter, Stephanie, 21, has been tested and learned she doesn’t carry the gene, her second child, Allison, 18, has not yet been tested. Neither has Lujan’s brother, who has a teenage daughter. (Men with the genes not only can pass them on, they also have a higher risk of prostate, breast and some other cancers.) And Lujan herself will soon decide whether to have her breasts removed -- a procedure called a prophylactic mastectomy.
“It’s overwhelming,” she says. “But I have a sense of urgency because of the age my sisters were diagnosed: 35, 44 and again at 50. I don’t know if I’m going to make it past 50.”
Men with BRCA mutations can opt for earlier and more rigorous cancer screening. But women with genetic mutations for breast and ovarian cancer face particularly tough choices on how to lower their risks. The options are limited and yet each carries major repercussions.
“The prevention options aren’t all that great,” says Dr. S. David Nathanson, director of Breast Care Services at Henry Ford Health System in Detroit and the author of a new book, “Ordinary Miracles: Learning From Breast Cancer Survivors.” “The options include devastating operations. And there is some question and doubt about how much nonsurgical means decrease the risk. It takes a long time to counsel these women. I can’t say, ‘Gee, I have a real magical treatment here to help you prevent cancer.’ ”
With scientists discovering more genetic links to a host of cancers and other diseases, many Americans could ultimately face similar decisions. But the BRCA mutations in women present an exceptional dilemma, however, because they are common, result in high-mortality diseases and involve complicated decisions on prevention.
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Early warning for cancer
About 190,000 Americans are diagnosed with breast cancer each year. For the majority, the disease strikes out of the blue.
But in an estimated 5% to 10% of cases, there is -- or could be -- an early warning in the form of an inherited genetic mutation that dramatically increases the chances of developing the disease. Those mutations are BRCA1 and BRCA2 (BRCA stands for breast cancer). A couple of less-common mutations known to increase risk can also be identified.
Certain ethnic groups, such as people of Eastern European Jewish or Ashkenazi descent, have higher rates of BRCA mutations. If one parent carries the gene, there is a 50% chance that their offspring will inherit it.
“I think people should give themselves a chance to be assessed for their risk,” says Dr. Pamela N. Munster, director of breast research at Moffitt Cancer Center in Tampa, Fla. “Ultimately, the patient decides what to do about prevention. But getting the risk assessment and being fully aware of the options is half the battle.”
Lisa Lujan expected her gene test to be positive and quickly decided to have her ovaries removed. The surgery dramatically lowers the likelihood of developing ovarian cancer, although it doesn’t completely eliminate it. It also cuts breast cancer chances by as much as 50% because, before menopause, the ovaries produce estrogen, which is linked to cancer risk.
The day before Lisa underwent a hysterectomy, Stephanie’s gene test came back negative. A college student, the determined young woman had already begun planning surgery to remove her breasts during summer break although she had decided to keep her ovaries to preserve childbearing options.
“I was so relieved about Stephanie,” says Lujan. “That was my biggest fear. Not fear for myself but that I would pass the gene on.”
But the result didn’t give Stephanie total peace of mind.
“I felt relief that I wouldn’t pass the gene on to my kids,” she says. “But I felt a huge sense of guilt that [her mother, Lisa] had to go through this.”
Now, both she and her mother wonder about Allison. Also a college student, Allison says she isn’t ready to deal with the issue. Furthermore, genetic testing isn’t recommended before age 21 because of the often-wrenching emotional toll and because prevention treatments typically don’t begin until 21 or later. But her mother and sister are nervous. “My worry now is, ‘Will I get lucky twice?’ ” says Lujan of the chances that Allison, like Stephanie, will test negative.
Says Stephanie: “I have this fear she’ll end up positive and won’t do anything about it. I would rather it was me because I was ready to do something about it.”
Doctors and genetic counselors point out that the key reason to have genetic testing is so that preventive measures can be taken. But the choices aren’t great: Watch and wait, take drugs that may reduce risk but carry side effects or remove the ovaries or breasts before cancer has a chance to strike.
Many people struggle to come up with a satisfactory prevention plan after learning they carry the gene, experts say. According to research, 30% to 40% of women who test positive for the BRCA mutation do not follow the minimal recommendation to have a mammogram once a year.
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Preventive surgery
More women, however, appear to be opting for the most drastic prevention measure -- removing the ovaries and/or breasts.
Physicians frequently recommend ovary removal for premenopausal women, especially those who have completed childbearing, says Dr. Eric P. Winer, chief scientific advisor for Susan G. Komen for the Cure, a nonprofit breast cancer organization, and director of the breast oncology center at Dana Farber Cancer Institute in Boston. The surgery puts women into early menopause, however, and, according to a study published in August, may increase the risk of dementia and movement disorders such as Parkinson’s disease later in life.
Removing the breasts decreases the risk of breast cancer by about 91%, according to several studies -- by far the most effective treatment. It, of course, is a Faustian bargain that doctors and patients alike detest.
“Many of us have the sense that the number of women choosing to have prophylactic mastectomy is on the rise, predominantly in women who have genetic mutations,” says Winer. “For a woman who has had multiple family members die of breast cancer, the disease is a tremendous and very legitimate fear. There is a huge psychological relief in the knowledge that their risk is much, much lower after a mastectomy. But it’s the most extreme approach.”
Women undergoing prophylactic mastectomy may not comprehend what they’re in for and the myriad of choices -- some new -- that can affect the result, says Ruth Swissa, a third-generation tattoo artist in Agoura who specializes in a micropigmentation technique to create a realistic looking areola in women who have had mastectomies and reconstruction.
“It’s rare for the breasts to be symmetrical and beautiful and ‘wow,’ ” says Swissa. “These women often avoid looking at their bodies.”
Many doctors recommend close surveillance (with frequent breast exams and mammograms) to avoid prophylactic surgery. But an estimated 25% to 50% of women with a BRCA mutation prefer surgery to living with uncertainty.
The choice often comes down to personality and life experience.
Sisters Liz and Marnie Cooper both carry the BRCA2 gene. Liz, 46, a lawyer who teachers at Fordham Law School in New York, was diagnosed with an early stage of breast cancer at age 39. She had a lumpectomy, radiation and chemotherapy. Two years later, she relented to nagging anxiety and had the gene test.
At the time, Liz nurtured the dream of becoming pregnant, but after testing positive, ultimately decided to have her ovaries removed. She took tamoxifen for the recommended five-year period following her lumpectomy and then began taking an aromatase inhibitor; both drugs can block estrogen and lower risk. She sees three doctors on a regular basis, thus undergoing clinical breast exams eight times a year, and has a mammogram or MRI at least once a year.
“I have made a preliminary decision not to have the mastectomy. But it’s a question I revisit,” says Liz. “I suppose part of the reason why I haven’t had surgery is I’m waiting for better options to come around.”
Sister Marnie, 42, wishes she had contemplated her options more carefully. After Liz tested positive, Marnie also had the gene test.
“I was sure it would be negative,” she says. It wasn’t.
Terrified, she plunged into a frantic round of medical consultations, her newborn daughter weighing on her mind. If she got cancer, would she see her child grow up?
“I decided, ‘I am going to do whatever I have to do to stay in this child’s life,’ ” says Marnie, an acting teacher who lives in Studio City. “Who cares about breasts? I would just chop them off.”
She chose to leave her ovaries in place to preserve future pregnancy options. But within weeks of learning her test results, she made an appointment for a prophylactic mastectomy and plastic surgery to reconstruct the breasts.
The results, she said, were devastating. The breasts were too small, and she eventually had corrective surgery on her nipples because their height was uneven. Shortly after that surgery, she developed nil disease, a kidney condition that she suspects -- although can’t prove -- was linked to the battering her body had taken.
“It’s horrendous what my breasts look like,” Marnie says. “This whole thing screwed up my life so royally.”
Marnie says she made the right decision but went about it the wrong way. If she had the choice again, she’d still get the mastectomy, she says, but she’d do more research into physicians, reconstruction options and she’d take more time to prepare herself for the surgery.
“The thing I didn’t understand was how drastic this was.”
The sisters say they had anguished discussions on how each was handling the problem. They disagreed on much: from having the test to undergoing a prophylactic mastectomy.
But they have supported each other through it all, says Marnie. “I think she is braver, and she thinks I’m braver.”
In the end, each sister made the choice that was best for her, Liz says.
As the number of women being tested soars, so does the imperative to support them with better information and scientific research, says Sue Friedman, executive director of a nonprofit organization for families with hereditary breast and ovarian cancer called FORCE, Facing Our Risk of Cancer Empowered.
“We have to advocate for ourselves more,” she says. “We are shouldering an unfair cancer burden. The age of cancer occurring is younger in our population.”
There is a striking lack of research showing what people do with genetic information, whether the actions they take lower their risk and how those choices affect their overall lives. That is troublesome, some experts say, because gene testing for breast cancer and other conditions is expected to grow by leaps and bounds as researchers identify more disease-causing mutations.
“Some people are getting tested and are very unprepared to understand the results,” Friedman says. “Unfortunately most physicians are not presenting women with all their options.”
She suggests getting tested through a genetic counselor in which a discussion of the risks and prevention options may be more thorough. Experts also advise families with a known gene mutation to keep up with scientific progress. Besides better breast imaging technology, for example, breast reconstruction methods are improving, Munster says. In some cases, doctors today can save nipples to preserve sensation and can insert breast implants in one step. Further, more cancer centers have plastic surgeons on staff who specialize in reconstruction.
“Cosmetically I think prophylactic surgery is much improved,” she says. “That may make it more acceptable. There is a lot of research going on in terms of breast reconstruction.”
Eventually, the numbers of women choosing prophylactic surgery may decline because of newer and better prevention drugs or continued progress in screening to detect cancers at an early stage, Munster says.
Until then, women simply may be forced to choose between deep scars or deep anxiety.
After agonizing about her future over the summer, Lisa Lujan says she is fairly certain that she will undergo a prophylactic mastectomy soon.
“I saw what my sister went through and think ‘I won’t do that,’ ” she says. “I want to watch my family grow up and see my grandchildren.”
Marnie Cooper hopes her child won’t have to relive her mother’s dilemma.
“I opened a door here and part of me wishes I had never opened it. But I have the gene and I had to deal with it,” says Marnie. “I’m adamant that by the time my daughter turns 18 there will be better options. There’s got to be another choice -- because this is such a drastic measure.”
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Taking the test to consumers
Without even trying, consumers may soon hear more about genetic tests for breast cancer.
After quietly offering the test for a decade, the primary supplier of the service, Myriad Genetics, has launched a direct-to-consumer advertising campaign. The test still requires a doctor’s order, but the campaign is intended to urge people to talk to their doctors about their risk, the company said. Another company, DNA Direct, has been offering the test directly to consumers for several years, via a website. DNA Direct’s test does not require a doctor’s order, but the company encourages consumers to discuss the test with their doctors.
Some health professionals worry that people who aren’t at high risk for breast or ovarian cancer will overreact to the advertisements and think they should get the test. The test isn’t meant for the general population, only for families who have reason to suspect they are at high risk. It’s also expensive and usually only covered by insurance if there is a family history of cancer.
Others worry that consumers ordering the test online or asking their doctors for a lab order will bypass a discussion with a doctor or genetic counselor about what the test entails and how to interpret the results.
-- Shari Roan
