Carol Cupp, Donna Goetzke and Ann June share a tight bond as sisters, talking or texting almost daily even though their lives, at ages 52 to 47, have led them to separate parts of Wisconsin.
They had much to discuss four years ago, when each of them tested positive for BRCA1, a gene that can greatly increase the risk of breast and ovarian cancer.
Their mother and aunt died from ovarian cancer, and several family members had breast cancer. After some deliberation, the sisters had their ovaries and breasts removed, mostly at UW Hospital, to dramatically reduce their chances of getting either cancer.
“We were really scared; it was weighing on us,” said Cupp, 52, of Fitchburg. “But we are so close. We’d say, ‘I feel this, do you feel this?’ It really helped.”
Twenty years after the discovery of BRCA1 and BRCA2, genetic testing for breast and ovarian cancer has become more straightforward — but, at the same time, more complex. The same is true for deciding whether to undergo life-altering surgery to try to prevent the cancers.
The topics are also more public now, with actresses Christina Applegate and Angelina Jolie revealing their testing and surgeries. Jolie had her breasts removed two years ago and said she had her ovaries taken out in March.
Tests for BRCA1 and BRCA2 are more certain today, with fewer inconclusive results.
Women with harmful mutations in either gene are about four to six times more likely to develop breast cancer, and about eight to 30 times more likely to develop ovarian cancer, than women without the mutations, according to the National Cancer Institute.
Removing breasts reduces the elevated breast cancer risk by about 95 percent, the cancer institute says. Getting rid of ovaries decreases the ovarian cancer risk by nearly 80 percent and the breast cancer risk by more than half.
But other genes have been identified, such as PTEN, TP53, PALB2, CDH1, CHEK2 and ATM, most of which present a fuzzier picture. Some merely double the risk, which for the general population of women is about 12 percent for breast cancer and 1.3 percent for ovarian cancer.
For the new genes, deciding whether to be tested — and, if positive, to take bold steps such as surgery — is less clear.
And while doctors and insurance companies generally limit genetic testing to women with family histories of the cancers, any woman age 18 and older can order a new test for 19 genes and do it at home with a saliva sample.
Color Genomics, which makes the new test, charges just $249 — $199 during October, breast cancer awareness month — compared to $1,500 or more for similar testing previously. That should allow more women to be tested without having to rely on insurance coverage, the company says.
“It’s becoming more complicated,” said Dr. Lee Wilke, director of the UW Breast Center. “It’s adding complexity to conversations about a woman’s risk tolerance.”
‘Door A’ and ‘door B’
Joanne Becker, a genetic counselor at UW Health, said it’s important for women who are thinking about testing to talk with a genetic counselor about the benefits and limitations.
Results affect not only the person being tested, but also family members, since there is a 50 percent chance a woman — or a man — with one of the mutations will pass it on to each child, Becker said.
Values and personality also come into play. Some people view the test as just another blood draw and need help thinking about the consequences more deeply, Becker said.
“This is much bigger than that,” she said.
Others might be preoccupied by negative news or vulnerable to depression.
“If that’s all they are going to think about, that may not be the best choice,” she said.
Wilke said women who test positive can undergo yearly mammograms, along with MRIs and physical exams — what she calls “door A” — as an alternative to preventive surgery, “door B.”
It depends on how comfortable they are with the possibility of getting an early-stage cancer, which is generally curable. Ovarian cancer is harder to detect early than breast cancer, however.
“You can always go from door A to door B, but you can’t go from door B to door A,” Wilke said.
Reconstructive surgery during or after mastectomies can restore much of the look of the breasts, but the sensation and appearance is never exactly the same, and women should take that into consideration, Wilke said.
“It’s not like the cosmetic implants you see on TV,” she said.
Family tree with cancer
By the time Cupp, Goetzke and June had their genetic tests in 2011, the sisters, who grew up in Mauston, had wrestled with such questions for years.
Their grandmother was diagnosed with breast cancer at age 49. Their aunt got breast cancer in her late 30s.
When Cupp was 30 and her cousin — the aunt’s daughter — was 32, they learned they, too, had breast cancer.
The notion that breast cancer ran in the family took hold.
“Something was going on,” said Cupp, whose daughter was 4 at the time. Cupp had the affected breast removed and received chemotherapy.
Four years later, the sisters’ mother was diagnosed with ovarian cancer. Then their cousin’s breast cancer came back. Shortly after that, their aunt got ovarian cancer. At some point, their grandmother’s sister and her daughter developed ovarian cancer too.
In 2006, the sisters’ mother and aunt died from ovarian cancer in their mid-60s, two days apart.
Cupp, Goetzke and June knew genetic testing was available and planned to do it eventually. But they were busy with their families and their jobs.
In 2009, their cousin took the genetic test. She was positive for a harmful mutation in BRCA1.
The fear that lurked in the sisters’ minds suddenly had a name. They felt pretty sure of their fate.
“We all assumed we were positive,” said Goetzke, 50, of Appleton.
Wanting peace of mind
Still, it wasn’t until 2011 that June, 47, of Mauston, was the first to say she was going to be tested.
She developed an ovarian cyst that doctors said was harmless but worrisome enough to require periodic ultrasounds. She was approaching her mid-40s, the age doctors said her mother’s ovarian cancer likely started.
“Every time you have a twinge, you think, is this it?” June said. “I needed the peace of mind of knowing one way or another.”
Learning she was positive wasn’t difficult because she was mentally prepared for it, she said. Cupp and Goetzke, who were tested shortly afterward, said they felt the same way.
“I wanted to have a reason to go through (ovary removal) surgery so I didn’t have to worry about it,” Cupp said.
In October 2011, within three months of learning they had the BRCA1 mutation, the sisters had their ovaries and fallopian tubes removed — Goetzke in Appleton and June and Cupp at UW Hospital. After watching their mother die from ovarian cancer, the decision was easy, they said.
It also became fortunate. Doctors found cancerous cells in Cupp’s fallopian tubes, possibly the beginning of ovarian cancer. She did chemotherapy again.
Having their breasts removed was a more distant consideration than opting for the ovary surgery, Goetzke said. “We never thought past that, about having mastectomies,” she said.
But June still had odd sensations, which made her worry. Cupp, recovering from her second cancer scare, figured she should do whatever she could to prevent a third. Goetzke’s doctor said that if she were to develop breast cancer, she would have to deal with the diagnosis and surgery, instead of just surgery if she did it preemptively.
“That really put it into perspective,” Goetzke said.
Cupp and June had their mastectomies at UW Hospital in August 2012. Goetzke had hers at UW Hospital six months later.
One of their two brothers has the BRCA1 mutation, and the other doesn’t. The sisters, who together have seven children ages 13 to 27 — six of them female and three adopted — said they didn’t want to discuss genetic testing as it relates to their children.
Now that the sisters’ testing and surgeries are well behind them, they are planning a vacation next year.
In 1997, after their mother was diagnosed with ovarian cancer, they took her to Acapulco two years in a row. Through the years, they’ve gone on other trips to Mexico, Jamaica and the Dominican Republic, with their children.
This time, it will be just the three of them. They’re not sure when or where — maybe Ireland, maybe Belize — but they know why: to celebrate being alive and cancer free.
“We’re calling it our ‘yippee! trip,’ ” Cupp said.