Fran Calhoun’s sister Bernadette died at age 40 of ovarian cancer, after surviving breast cancer at age 24.
Another sister, Joan, tested positive for the same genetic mutation Bernadette had and decided to get a hysterectomy to reduce her cancer risk. A third sister, Elaine, did not get tested but had her ovaries removed anyway.
As Calhoun watched Bernadette’s painful end, she was pregnant with the first of her two young daughters. “I got tested to know whether to be scared for them,” said Calhoun, 37, who lives in Pembroke Pines, Fla.
Finally, five months after the birth of Brianna Bernadette, who will never know her namesake aunt, Calhoun found out she does not carry the genetic mutation. That means her cancer risk is no higher than that found in the general population.
“Having it come back negative was the best Christmas present I could get,” Calhoun said.
In deciding to get tested, Calhoun worked closely with the new Familial Ovarian/Breast Cancer Center at the University of Miami/Jackson Memorial Medical Center. The center’s specialists help people like Calhoun with a strong family history of cancer figure out their risk of developing the disease–and then decide what to do about it.
The timing is no accident. Information about the risks posed by various genetic mutations is growing by the day, increasing doctors’ ability to predict disease and personalize treatment.
“What you will see in the next five years is tremendous progress in genomics,” said Dr. Ramin Mirhashemi, director of the center, the only one on the East Coast south of New York. “This center will be cutting-edge.”
In addition to providing clinical services and genetic counseling, Mirhashemi said the team will maintain a registry of patients, conduct research, educate primary-care physicians, teach high school students to research their cancer pedigrees, and host doctors from Latin America who want to set up similar centers.
The stakes are high. A woman with gene mutations known as BRCA1 or BRCA2 (for breast cancer 1 or 2) has an 85 percent risk of getting breast cancer. Both mutations also carry a high risk of ovarian cancer.
The issue intensifies in South Florida, with an aging population and a large number of people of Eastern European Jewish descent, a group at particularly high risk of carrying the breast cancer gene mutations.
What other factors put a person at high risk? Families with several affected members, in more than one generation, with cancer striking at an early age, and in both breasts or both ovaries. “Male breast cancer is a very big red flag,” said Talia Donenberg, genetic counselor at the center.
Donenberg works closely with patients to track all possible affected family members. “Half of women with hereditary breast cancer inherit it from their father’s side,” she said. “That is something the medical community is only beginning to realize.”
That’s why at some point Fran Calhoun’s husband also will be tested for the genetic mutation–his mother died of ovarian cancer. If he tests negative, the Calhouns will know for sure that the girls do not carry the mutation.
Donenberg emphasizes that the levels of risk are still under study. Between 5 and 10 percent of the estimated 175,000 cases of breast cancer diagnosed each year are linked to the mutations, according to the American Cancer Society.
A decision to proceed with genetic testing, or to have surgery to remove a breast or ovaries to reduce cancer risk, is personal and never pushed by Donenberg or other team members. “We certainly inform patients that there is no 100 percent type of prevention,” Donenberg said.
Most women worry about confidentiality of genetic test results, concerned about possible discrimination in insurance or employment should they test positive for a mutation related to cancer risk. So far, specialists in cancer genetics have heard no serious reports of discrimination, Donenberg said, but “there’s a lot of fear out there, and we do a lot to quell that fear.”
Calhoun worried about her ability to get health insurance should she test positive for a genetic mutation. “I just wish that people could go and get tested freely,” she said. “That way you can know and not have to put yourself and your family through a nightmare.”
Also working to dispel fear by providing information and support is Sue Friedman, a breast cancer survivor who started FORCE: Facing Our Risk of Cancer Empowered. Friedman, a veterinarian in Coral Springs, Fla., was diagnosed with breast cancer at age 33, had a mastectomy, then learned she carries a BRCA2 mutation after a recurrence of the cancer.
Searching the Internet, Friedman found there was no help specifically for women who had genetic testing and were getting preventive treatment. “They have the same fears and risks,” said Friedman, who’s now 37. “I realized this was a whole area that wasn’t being addressed. Having more enthusiasm than perhaps brains, I decided I would step up to the plate. I started FORCE.”
What started out as a message center is now a Web site that gets about 10,000 visitors a month. The goal is to help women get the information they need to decide about genetic testing and prophylactic surgery.
When she had her second breast removed to cut her risk of more cancer, Friedman was thinking of her 5-year-old son. “I need to be around to watch him grow up,” she said. “That’s been my incentive for getting as much information as possible.”
Psychological issues dominate many of the conversations Mirhashemi and Donenberg have with patients. Women may consider a prophylactic mastectomy because they have seen family members die young. “Cancer equals death for them,” Donenberg said.
But the decision is clearly complicated: After the surgery, the patient will have to consider reconstruction, which may take several operations until she is comfortable with her body again.
Young women at high risk of ovarian cancer often wrestle with child-bearing concerns. Can they try to have children earlier than they might have otherwise, then consider ovary removal later? Removing the ovaries brings on early menopause, which could put young women at risk for early development of brittle bones and heart disease.
Some women with high cancer risk are treated with preventive drugs. Those at risk of ovarian cancer can be put on oral contraceptives; for breast cancer protection, tamoxifen has been shown in some studies to reduce risk by nearly 50 percent.
During a recent visit with Mirhashemi, breast and ovarian cancer survivor Dinorah Gutierrez was urged to get her daughter and son to come in for counseling and testing.
Gutierrez, 51, is still getting chemotherapy for ovarian cancer. She had a mastectomy after being diagnosed with breast cancer in December 1997. Her sister died of breast cancer, a cousin had bilateral breast cancer, and Gutierrez recently learned she carries the BRCA1 mutation.
She is, through it all, unfailingly positive, looking forward to returning to her job as a costume maker for the New World School of the Arts. She hopes her experience inspires other women to find out as much as they can about their medical risks.
“I didn’t get a mammogram every year like I should have,” Gutierrez said. “I want every woman to do that.”
