Previvors

Actress Angelina Jolie made headlines when she revealed that she’d had a double mastectomy after learning she carried a BRCA gene mutation. But well before she ‘came out,’ a number of local women were taking their own preemptive action.



Illustration by Libby Burns

(page 1 of 2)

For generations, no one realized that a killer was stalking the women in Lisa Schlager’s family.

Her father’s maternal grandmother died in her late 40s of what the family described as “female issues.” And her father’s mother died from what her family thought was lung cancer.

It wasn’t until her father’s younger sister, Ronni, was diagnosed with premenopausal breast cancer that the true identity of her grandmother’s and great-grandmother’s likely killer was revealed: a mutation in a BRCA—for “breast cancer susceptibility”—gene, which sends women’s risk of breast cancer as well as ovarian cancer soaring.

Only a small proportion of breast and ovarian cancers are hereditary, but mutations in the two BRCA (commonly pronounced “braca”) genes account for the bulk of them—5 percent to 10 percent of all breast cancers, and 10 percent to 15 percent of all ovarian cancers, according to the National Cancer Institute. In people without mutations, the BRCA genes help prevent tumor growth.

After her Aunt Ronni tested positive for a BRCA mutation, Schlager, the next oldest woman in the family at age 31, decided to get tested. While awaiting the results, Schlager recalls, “I tried not to think about it. I felt a little bit invincible. I was pretty surprised when the results came back positive for the mutation. This is heavy information, and there’s a lot that goes along with it.”

Today, the 46-year-old Chevy Chase resident serves as vice president for community affairs and public policy at FORCE, or Facing Our Risk of Cancer Empowered, a national nonprofit dedicated to improving the lives of individuals and families affected by hereditary breast and ovarian cancer.

If a woman knows she has a BRCA mutation, she can take steps—earlier and more frequent screening; “chemoprevention” with drugs such as tamoxifen; and prophylactic surgery—to reduce the chances that she’ll develop and possibly die from breast or ovarian cancer. More than a decade ago, FORCE coined the term “previvor” to describe women who have survived a genetic predisposition to breast and ovarian cancer, as opposed to surviving the disease itself.

Actress Angelina Jolie became the world’s best known previvor when she “came out” last May in a New York Times op-ed piece. She wrote about testing positive for a BRCA mutation and having a prophylactic double mastectomy and reconstructive surgery. Her mother died in 2007 of ovarian cancer, and her mother’s sister, who also had a BRCA mutation, died of breast cancer days after Jolie’s op-ed piece appeared.

“This has certainly brought hereditary cancer out of the closet,” Schlager says of Jolie’s announcement. “We’ve never had so many media requests. Our Facebook page and website had more hits than ever, and calls to our helpline quadrupled.”

About one in 500 people in the general U.S. population has a BRCA mutation—nearly 1 million Americans, according to FORCE. But among Ashkenazi Jews—those of European descent like Schlager—one in 40 has a mutation. Thousands of BRCA mutations have been identified, but three in particular are associated with most hereditary breast and ovarian cancers in Ashkenazi Jews.

About 12 percent of women in the general U.S. population will develop breast cancer sometime in their lives, but those with BRCA1 or BRCA2 mutations have at least a 60 percent chance—or at least five times that of women without a mutation.

Breast cancers in women with BRCA mutations tend to be diagnosed at an earlier age, often before menopause, than in women without such mutations. BRCA mutations also increase the lifetime risk of ovarian cancer 10- to 30-fold, from 1.4 percent seen in the general population to 15 percent to 40 percent. In addition, both women and men with BRCA mutations might have an increased risk of other tumors, including pancreatic cancer.

Geneticist Mary-Claire King, now at the University of Washington in Seattle, provided the first evidence that the BRCA1 gene existed back in 1990 while working at the University of California, Berkeley. (In interviews, she has said that BRCA is named for Berkeley, Calif., as well as breast cancer.) Until this year, Myriad Genetics, a Salt Lake City company, was the sole marketer of a blood test for mutations in the genes, providing BRCA testing to a quarter of a million people each year in the United States and elsewhere since 1996. But in June, the U.S. Supreme Court ruled that the company’s patents of the BRCA1 and BRCA2 genes were illegal. That ruling was expected to open up the BRCA testing market and lower the cost—and indeed, a Houston company announced that same day that it would begin offering the testing for $995 versus the roughly $4,000 Myriad had been charging.

BRCA testing is not recommended for women who’ve never had breast or ovarian cancer and don’t have a family history of either disease, although some scientists have suggested that Ashkenazi women should be routinely tested, given how common mutations are in that population.

Just because your grandmother was diagnosed with breast cancer at the age of 75 doesn’t mean the disease runs in your family, notes nurse practitioner Jennifer Loud, assistant chief of the clinical genetics branch of the Division of Cancer Epidemiology & Genetics at the National Cancer Institute, part of the National Institutes of Health in Bethesda. However, if a male relative has had breast cancer or multiple female relatives have had ovarian and/or breast cancer, especially in both breasts, “well, this is starting to have that hereditary cancer flavor,” Loud says. “We would always like to test one family member who had cancer.” If that individual is found to have a BRCA mutation, then other family members could be tested to see if they have the same mutation.

Jolie’s announcement spurred many anxious women to call the Suburban Hospital Breast Center in Bethesda, says Dr. Pamela Wright, a breast surgeon and the center’s medical director. “With a lot of these women, their perceived risk is so much higher than their actual risk,” Wright says.

Computer models based on family history can help estimate the likelihood of having a BRCA mutation. “Sometimes women are very pleasantly surprised that their risk estimates are lower than they thought,” says Dr. Carolyn Hendricks, an oncologist who specializes in breast cancer at Suburban.

The fact that Schlager had a BRCA2 mutation meant that her father had to have passed it on to her. His mother, who likely had breast or ovarian cancer and not primary lung cancer, must have passed the mutation to him. And his maternal grandmother’s lethal “female issues” presumably were breast and/or ovarian cancer. Each child of an individual with a mutation has a 50 percent chance of inheriting it. Schlager’s cousin, the daughter of her Aunt Ronni, won the coin toss and tested negative.

After Schlager tested positive in 1999, she discussed her options with a surgeon. But she was taken aback when the doctor asked straightaway: “So when are we scheduling surgery?”

Schlager was married but hadn’t yet had children, so she wasn’t ready to remove her breasts, ovaries and fallopian tubes, the most effective way for women with BRCA mutations to reduce their cancer risk. Instead, she opted for stepped-up screening. She alternated mammograms with an MRI of her breasts every six months. To screen for ovarian cancer, she underwent a transvaginal sonogram and a CA-125 blood test every year. CA- (or “cancer antigen”) 125 is a protein present on the surface of many ovarian cancer cells. The test has a high false-positive rate, so it’s not routinely used to screen average-risk women.

“Surgery is not the only option,” Schlager says. “You have to do what is right for you.”

However, screening for ovarian cancer “has proved to be a remarkably difficult challenge,” Loud says, and the disease usually isn’t diagnosed until it’s at an advanced stage. Schlager acknowledges the ovarian screening tools “aren’t very reliable,” but “they’re all we have.”

Loud says she has known high-risk women who put off prophylactic surgery for decades. “All of a sudden they’re ready. I can’t put my finger on why exactly. It may be related to just a little bit of change in worry,” she says. “Sometimes I think they’ve decided they just want to do everything in their power” to avoid cancer.

For Schlager, now a mother of two, “things changed after I had kids. When I reached my 40s, there was a lot more research out. As I approached my 40th birthday, I knew I had to take my ovaries out.”

Removal of the ovaries and fallopian tubes cuts the risk of ovarian cancer in women with BRCA mutations by about 90 percent. In high-risk premenopausal women, it also reduces the breast cancer risk by halting the production of estrogen, which plays a role in the development of the disease.

Schlager had her ovaries and fallopian tubes removed in 2006 at Georgetown University Medical Center and began to seriously consider getting her breasts removed, too.

“All of a sudden I didn’t feel so invincible,” she says. “My MRIs found a few things. I was getting biopsies.” One biopsy was normal, but the other found precancerous cells associated with a five-fold increased risk of breast cancer. It “significantly increased my anxiety level about developing breast cancer,” Schlager recalls. “I had two little kids at home, and all I could think about was how we would manage if I got sick.”

Plus, her doctor was reluctant to put her on hormone therapy—typically prescribed for women who’ve gone through early menopause as a result of having their ovaries removed—while she still had her breasts. Studies have linked postmenopausal hormone therapy to an increased risk of breast cancer.

So in 2007, Schlager underwent a prophylactic, “nipple-sparing” double mastectomy followed by reconstructive surgery at Georgetown. These days, she’s happy to duck into a restroom and unbutton her shirt to show her results to any woman considering the operations.

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