NORTH ATTLEBOROUGH — The four women — two sisters, their aunt, and their cousin — sit on a sunny porch on a recent day, discussing their lives in the past several months. Since August, they have had, collectively, six cancer surgeries, and a seventh is scheduled for May 29. At the time of their surgeries, the women hadn’t yet been diagnosed with cancer, but they had their ovaries, fallopian tubes, or breasts removed because their risk of getting cancer was so high.
“At the Dana-Farber [Cancer Institute], they use the word ‘previvors,’ and it means to catch it before you’re a cancer survivor,” says Lisa Whalen, who is 54. “It’s a great word. I want to be a previvor, not a survivor.”
Because they feel the public knows so little about inherited cancer — and what can be done about it — the women want to speak out about the cancer that has stalked their family for at least four generations. Whalen has drawn a family tree that shows 15 deaths from cancer.
“And those are only the ones we know,” says Lesley Keays, 42. It is at her home that the women have gathered, and she’s sitting on a couch with her sister Mary Ellen Dean, 57. Their 82-year-old aunt, Joan Eppich, and her daughter, Whalen, sit close by. Eppich has come down from Laconia, N.H., Whalen from the Cape. Dean lives in Mendon.
Like Angelina Jolie, who recently had both breasts removed because she has a family history of cancer and tested positive for a mutation in the BRCA1 gene, the four women have tested positive for a related gene mutation called the BRCA2. A mutation in either of the genes, which are tumor suppressors, has been linked to hereditary breast and ovarian cancer in premenopausal women, as well as other cancers.
“I call it BRCA mania,” says Dean. “In our family, it has taken on a life of its own. Maybe we will show that regular people can access testing. Not enough people know about this."
According to the National Cancer Institute, the lifetime risk of breast cancer for a woman with a BRCA mutation is about 87 percent, compared with an 8 percent chance for the general population. For ovarian cancer, it is a 44 percent lifetime risk compared with 1 percent of the general population.
Men with BRCA mutations are susceptible to male breast cancer, pancreatic, and prostate cancer, according to the institute. Both genders are at increased risk for melanoma.
A doctor told Keays that her family was one of the worst cases of “a mutation expressing itself,” or a faulty gene leading to cancer, which led to death, she says.
Keays, who owns a public relations company, was told in August that her test for BCRA2 was positive. She had decided to get tested because her great-grandmother died young from breast cancer; her grandmother died of ovarian cancer at 56; her great-aunt of breast cancer at 43; her great-uncle of pancreatic cancer at 60.
Her own mother was diagnosed at 56 with breast cancer that would kill her at 64, in 1997.
“My mother always suspected there was a hereditary link,” says Keays, whose gynecologist recommended she be tested. The test involves a blood sample. Sometimes insurance companies cover it — given a family history and a physician’s recommendation — but some do not. A full-panel test for both BRCA1 and BRCA2 mutations typically costs about $3,000.
Keays, who is single and has no children, went to her sister’s house with her test results. If she chose the prophylactic surgery to remove her ovaries and fallopian tubes, she would never be able to bear children.
“I collapsed into my sister’s arms,” Keays recalls. “I could feel her shaking and crying, and I realized, this is not just about having a child. This is about life and death.” In November, she had her ovaries and fallopian tubes removed.
Her sister supported her decision, and credits Keays with helping educate the entire family. “I think I always knew I was going to die of cancer, because so many people in our family had died of it,” says Dean. She was tested in December and on New Year’s Eve learned that she, too, was positive. On Feb. 5, she had a bilateral salpingo-oophorectomy at the Brigham and Women’s Hospital.
A what? The women laugh at the question. None of them had ever heard of the procedure, either. And now three of them have had it done, and the fourth — Whalen — is scheduled for May 29. A bilateral salpingo-oophorectomy is the removal of the fallopian tubes and ovaries.
Two weeks after Dean’s surgery, a pathology report still found microscopic signs of cancer. On Feb. 26, she had a hysterectomy, or removal of her uterus. She is undergoing chemotherapy.
Still, she feels lucky. “Ovarian cancer is the biggest silent killer out there,” she says. “Everyone has said to me, ‘You’re so lucky you caught this early.’ People should definitely consider getting the test, and saving themselves.”
In December, the family matriarch, Eppich, tested positive for BRCA2 and has since had her ovaries, fallopian tubes, and breasts removed. “If you test positive, it’s a red flag that you’ll get cancer,” she says. “Not if, but when.”
Whalen got tested the day after her mother’s positive results. She, too, tested positive, and will have her tubes and ovaries removed on May 29.
Now the family is worried about its younger generation. Two of Whalen’s three children — a son, 30, and daughter, 26 — have decided to get tested. Their 28-year-old brother is undecided. Dean’s 30-year-old daughter is pregnant; when she is through nursing her baby, she will be tested.
Keays knows that the decision isn’t an easy one, but says “there is life after testing positive.” She has found support not only among family members, but from a national BRCA advocacy group called FORCE, or Facing Our Risk of Cancer Empowered. FORCE has several support groups throughout the country, including one in Boston.
Karen Kramer is vice president of FORCE, and in 2009, she tested positive for the BRCA1 gene mutation from her father’s side of the family. “The one thing we tell people is to understand their family medical history on both sides,” she says. “Men and women can both have BRCA mutations and each child has a 50 percent chance of inheriting it.”
Deciding to have the test can be difficult, and Kramer recommends consulting genetics experts if there is a family history of cancer. “They can help you make a decision,” she says.
Kramer has had her breasts, uterus, ovaries, and fallopian tubes removed. “When I learned that risk-reducing surgery was an option, it wasn’t a difficult choice,” she says. “For me, it created peace of mind.”
But she knows that most women do not choose to have such preemptive surgery once they test positive. Her own sister, who also tested positive for the BRCA1 mutation, had her ovaries removed, but has chosen to keep her breasts, relying instead on “surveillance,” or getting mammograms and MRIs every six months.
Eppich remembers the days when the word “cancer” was not spoken. “No one talked about it,” she says. “People were so afraid of it.” In 1953, her aunt died of breast cancer at age 43, and the treatment was both grueling and secretive.
Though six decades ago she suffered in silence, that woman’s great-niece today is happy to spread the word about the family cancer curse so that others may learn from it. “Just know your options,” is Keays’s message.
Next, she is seriously considering having a double mastectomy and reconstructive surgery.
TESTING FOR BRCA1 AND BRCA2 MUTATIONS
BRCA1 and BRCA2 genes belong to a class of human genes known as tumor suppressors. Mutation of these genes has been linked to hereditary breast and ovarian cancer.
Risk of developing breast cancer or ovarian cancer is greatly increased if a woman inherits a
deleterious BRCA1 or BRCA2 mutation. Men with these mutations also have an increased risk of breast cancer. Both men and women who have harmful BRCA1 or BRCA2 mutations may be at increased risk of other cancers.
Tests for BRCA1 and BRCA2 mutations are available. A blood sample is required, and genetic counseling is recommended before and after the tests.
If a harmful BRCA1 or BRCA2 mutation is found, several options are available to help a person manage his or her cancer risk.
Federal and state laws help ensure the privacy of a person’s genetic information and provide protection against discrimination in health insurance and employment practices.
Research studies are being conducted to find newer and better ways of detecting, treating, and preventing cancer in BRCA1 and BRCA2 mutation carriers. Additional studies are focused on improving genetic counseling methods and outcomes.
SOURCE: The National Cancer InstituteBella English can be reached at firstname.lastname@example.org.