Experts Say Jolie Raises Awareness of Genetic Cancer Risk, but Caution Not All Women Need Testing
By MELINDA BECK and RON WINSLOW
Cancer experts said Angelina Jolie's decision to have a preventive double mastectomy because of a heightened genetic risk for breast cancer should encourage women to look into their family history for the disease.
But they cautioned against the need for all women to routinely order a genetic test for breast cancer and noted that there are less-aggressive options to consider for those who do test positive for a genetic mutation tied to breast cancer.
Flow Physical Therapy & Yoga founder Amy Shapses joins Lunch Break to look at how news of Angelina Jolie's elective double mastectomy could shape public perceptions of the procedure, and what women can expect after undergoing breast cancer surgery. Photo: AP.
In an essay in the New York Times that drew wide attention, the 37-year-old actress said she had her breasts removed earlier this year after testing positive for a mutation in what is called the BRCA1 gene. Ms. Jolie had the test because her mother died at age 56 after a decadelong battle with cancer.
Every year, about 232,000 women in the U.S. are diagnosed with breast cancer and 40,000 die from the disease. The National Cancer Institute says that mutations in the two BRCA genes, BRCA1 and BRCA2, account for less than 10% of all breast cancers. They also account for about 15% of ovarian cancers.
However, women who have one or both mutations have about a 60% risk of breast cancer during their lifetimes, compared with 12% for women without such mutations, according to the NCI. Women with a BRCA mutation are also likely to develop the disease at a younger age and are more likely to get it in both breasts. Some studies put the risk as high as 87%, the figure Ms. Jolie cited as leading to her decision.
For all women, the average lifetime risk of getting ovarian cancer is 1.5%. That rises to between 40% and 60% with a BRCA1 mutation, and to between 16% and 27% with BRCA2.
"Women should be empowered by family-history knowledge and BRCA knowledge," said Isabelle Bedrosian, a breast surgeon at MD Anderson Cancer Center in Houston. But a clear family history should be determined before getting tested, she said.
Tests for both BRCA mutations are marketed by Myriad Genetics Inc. MYGN -1.67%of Salt Lake City, which said such testing costs about $3,340. It is covered by major health insurers and managed-care organizations in the U.S., although generally only when women have a significant family history of breast or ovarian cancer as well as other criteria.
Dr. Joseph Dayan, Beth Israel director of Plastic and Reconstructive Surgery Research, joins Lunch Break to discuss how Angelina Jolie's announcement that she had a preventative double mastectomy could change the conversation about options for young women facing the same risks. Photo: Getty Images.
"These are single, rare gene mutations that most people don't have," said Marisa Weiss, director of breast health oncology at Lankenau Medical Center near Philadelphia and founder of Breastcancer.org. Some women who hear about Ms. Jolie's case might feel they should get the test, she says, "but the reality is that only a small percentage of women actually qualify for it, based on the guidelines."
Women with the mutations who choose to have both breasts removed protectively reduce their risk of developing breast cancer by about 90%, or down to a 5% lifetime risk, since some breast tissue remains. Women who have the mutations and opt to remove just the ovaries before menopause cut the risk of developing breast cancer by 50%.
A Stanford University study published last year based on a computer simulation estimated that removing both breasts and ovaries after a positive BRCA test results in gains of life expectancy of up to 10.3 years for BRCA1 and 4.4 years for BRCA2 mutation carriers.
When to Test
BRCA mutations are rare, but some factors add to the risk:
- Diagnosis of early onset or triple-negative breast cancer
- A known BRCA mutation within the family
- A first-degree relative with cancer in both breasts
- A first- or second-degree relative with breast cancer diagnosed at 45 or younger
- Two or more relatives with breast cancer on maternal or paternal side
- A male relative with breast cancer
- Ashkenazi Jewish descent
Source: National Comprehensive Cancer Network
But preventive surgery isn't the only option. Some doctors advise very close monitoring, with screenings via ultrasound or MRIs twice a year. In a study of 288 women from 2001, the drug tamoxifen reduced breast-cancer incidence among healthy BRCA2 carriers by 62% compared with a placebo, though it didn't reduce breast-cancer incidence among healthy women with BRCA1 mutations. The drug can cause blood clots and other side effects.
Whether women have the mutations or not, maintaining a healthy weight, exercising regularly, limiting alcohol and not smoking can also reduce breast-cancer risks, experts say.
Ms. Jolie's disclosure comes as growing numbers of women are electing to have healthy breasts removed protectively. Some women without the BRCA mutations who are diagnosed with cancer in one breast decide to have both removed even though data suggest their risk of getting the disease in their second breast is low.
In such cases, doctors say, women are driven by factors including fears of developing cancer and advances in breast-reconstruction surgery—which Ms. Jolie had. Recent research at MD Anderson failed to find "any evidence that removal of the opposite breast improved their survival," Dr. Bedrosian said.
Write to Melinda Beck at HealthJournal@wsj.com and Ron Winslow atron.winslow@wsj.com
