Staying a Step Ahead

The decision of whether to undergo prophylactic mastectomy is personal for women who test positive for BRCA1 and BRCA2.

By Juliana Hansen, MD

What would you do if you were handed a cancer diagnosis? Most people, no matter their age, family history, or life experiences, would opt for the best treatment available to cure the disease. What if you were in perfectly good health but were told that you had an increased risk of developing breast and ovarian cancer? To drastically reduce your chances of developing cancer, would you choose to have preventive surgery to remove the organs at risk? For some the decision would be simple and straightforward; others might choose to delay the decision; and some would consider it an excruciating choice given their particular life circumstances. This is the story of one woman who, when faced with an increased risk of breast and ovarian cancer, made the decision to undergo prophylactic mastectomies.

Pam* became aware that she was at increased risk of breast cancer when she was 37, newly married, and before she had started the family she planned to have. It was while helping her mother, a breast cancer survivor, through treatment for ovarian cancer that Pam was encouraged to undergo genetic testing herself. She was referred to a clinic specializing in genetic, high-risk cancers, where her family history was reviewed. Based on her mother’s cancer—which fit the pattern for a genetic disorder—and her history of Ashkenazi Jewish ancestry, which also put her in an elevated-risk category, the decision was made to test her for a gene mutation. Pam tested positive for a BRCA2 mutation six months after her mother completed successful treatment for ovarian cancer.

What Now?

Pam was aware of the value of being proactive. It was she who suggested strongly to an emergency room (ER) doctor that they test her mother for CA-125 during one of her mother’s many ER visits preceding her ovarian cancer diagnosis. Her mother had been experiencing vague symptoms and pain for several months, but her ailment remained undiagnosed. Pam remembered reading about ovarian cancer and the CA-125 marker test, and her mother’s symptoms sounded familiar to her. When that test came back markedly elevated, her mother’s diagnosis was made and treatment was begun, which ultimately proved successful.

Now facing her own test results, Pam relied on the research she had already done when making her choices. Once high-risk status has been established, there are a number of options for health maintenance. Currently, the most effective approach is to surgically prevent cancer from developing or substantially reduce the likelihood of it. Bilateral prophylactic mastectomies should be discussed and presented as an option to women who are BRCA positive, though the decision to undergo this procedure is highly individual and should be made only after counseling. The procedure is used for primary prevention of breast cancer, and it will reduce by 90 to 95 percent the risk of developing the disease. Because the risk of ovarian cancer is also associated with the BRCA mutation, risk-reducing salpingo-oophorectomy (fallopian tube and ovary removal) should also be addressed. The procedure is recommended for women between the ages of 35 and 40 (or after completion of child bearing). This procedure will reduce the risk of ovarian cancer by 50 percent.

After reviewing all the information presented to her, Pam opted for total bilateral mastectomies to be followed by immediate reconstruction with implants. She had thought through the process beforehand and had already decided to undergo surgery if she was positive. Pam had been struck by the toll that ovarian cancer had taken on her mother, and she had resolved to do whatever she could to live a long and healthy life. Her attempts to get pregnant were put on hold for the duration of her breast surgery, but she decided to delay prophylactic ovary removal until after she had completed her family.

During the course of Pam’s surgery, both breasts and both nipples were removed. Reconstruction began immediately, with temporary implants placed at the time of surgery. After a three-month process of expansion, she underwent a second procedure to have the permanent implants placed and, later, a final procedure to have the nipple-areola complexes reconstructed. She is now six months out from the last of her scheduled procedures for breast reconstruction. Her final procedure was performed just a few weeks after the birth of her son.

Other Options

Though Pam chose surgery, primary prevention or risk reduction by surgery is not the only option. Outcomes may also be improved by intensified screening that can lead to early detection to identify cancer while at a treatable stage. Surveillance and screening programs should be instituted for both high-risk women who do not choose surgery and prior to surgery for women who choose to undergo the procedure.

Women who are at increased risk of breast cancer due to known hereditary factors are encouraged to perform monthly self-exams beginning at age 18, undergo clinical exams by a medical practitioner twice yearly beginning at age 25, and undergo annual mammography and MRI screening yearly beginning at age 25. Ovarian disease should also be screened for in high-risk women. Transvaginal ultrasound and blood test screening for elevated CA-125 levels are recommended every six months beginning at age 35, or five to 10 years before the earliest age of first diagnosis of ovarian cancer in the family.

Chemoprevention, or use of medications to alter the natural history of the disease, may prove to be another alternative to surgery. Medications that block estrogen are routinely used in breast cancer treatment in certain patients whose tumors are hormone sensitive. Tamoxifen (Nolvadex®) and Evista® (raloxifene) have also been shown to significantly decrease the risk of developing breast cancer in BRCA patients, decreasing the incidence of cancer by half. Some of the cancers that will develop in BRCA patients, however, will not respond to these drugs, and data on optimal use in BRCA1 and BRCA2 patients is still being investigated. Tamoxifen and Evista have also been shown to have potential side effects, so the risks must be weighed.

No Regrets

Testing positive for the BRCA gene was a clear indicator to Pam that she had to be proactive in decisions about her health. She feels lucky that that “there is a test out there with statistics behind it that can make the decision-making process so cut and dried” and acknowledges that the 87 percent risk she faced—the high end of the elevated risk of breast cancer in BRCA carriers—was a defining number that informed her decision. “It would have been an excruciating process if the statistics were lower,” she says. At the time of her testing, in fact, she worried more that the test would reveal that she did not carry the genetic mutation because, if that was the case, she knew that this did not mean she was free of a gene mutation—just that she didn’t have one of the most common ones. Had that happened, she says, she would have had other choices to make. Should she undergo more expensive testing for the full array of possible mutations? Should she enroll in a surveillance program and wait, hoping to find something early if it developed?

Ultimately, in thinking back over her surgeries and the decision that prompted them, Pam does not regret any of the choices she made regarding her preventive surgery. In fact, she says that she has felt much freer since her surgery because she does not have to worry about breast cancer daily. She has been able to focus instead on her pregnancy and her baby’s first year of life. She feels disappointment that she was not able to nurse her child, but she can’t imagine having made a different decision. In hindsight, she says she may have tried to start a family sooner. “Back then,” she says, “I felt like I had all the time in the world.”

Pam is now considering having a second child. Once she has made that decision, she says, she will decide whether to have her ovaries and fallopian tubes removed. The upcoming decisions are weighty, but she is emotionally fit. She has had comprehensive care at a multispecialty clinic that includes genetics counseling, surgical oncologists, gynecologic oncologists, medical oncologists, plastic surgeons, and mental health professionals. She has investigated her options fully, has been rational about her decision-making, and feels good about her choices so far. She has had no second thoughts and would make the same decision over again.

People comment on Pam’s bravery, but when they do she is quick to respond that she has acted only out of a desire for self-preservation. Now, as the painful edges of her choice increasingly fade, daily life with her family takes precedence as she revels in the overwhelming sense of freedom she has been granted. The doubts and the concerns that remain, such as how her decision will ultimately affect her family and wondering what genes she has passed on to her child, pale in comparison to the feelings of relief and freedom that she experiences now. And though Pam says she does miss her natural breasts (“I liked them and do feel a sense of loss”), she considers herself fortunate to have been provided choices. “I was going to lose [my breasts] either way,” she says. “It was just a case of whether I wanted to battle cancer as well.”

*Not her real name

Read more personal stories related to genetic testing and find more information about the process on page XX in this issue of Women&Cancer.