Posted: May 14, 2013 8:45 PM
May 14, 2013 -- Actress and activist Angelina Jolie's recent decision to have a preventive double mastectomy highlights the difficult choices facing women who find out they have a high risk for breast cancer because of their genes.
Although relatively rare, mutations in the BRCA1 and BRCA2 genes raise the risk of breast cancer by as much as 80%, experts say. The mutations also raise the risk of ovarian cancer.
Jolie describes in a New York Times op-ed piece why she decided to go through with the surgery. At 37, the mother of six wants to stay healthy and active for her family -- and to reassure them that she is doing everything possible to avoid the disease that took her mother's life: cancer.
"I wanted to write this to tell other women that the decision to have a mastectomy was not easy," Jolie writes. "But it is one that I am very happy I made. My chances of developing breast cancer have dropped from 87 percent to under 5 percent. I can tell my children that they don't need to fear they will lose me to breast cancer."
WebMD asked breast surgeon Shelley Hwang, MD, chief of breast surgery and professor of surgery at Duke University Medical Center and Duke Cancer Institute, to fill us in on what else women need to know. Hwang did not treat Jolie.
In Angelina Jolie's case, she had a mutation that puts her at very high risk for getting breast cancer at some point in her life. Right now the most effective prevention that we have for [this] BRCA mutation carrier is a prophylactic double mastectomy.
It is always a double mastectomy because both breasts are at risk and you don't know which breast is going to get breast cancer when women have a BRCA mutation.
Only about 5% of all breast cancers are in women who have this genetic mutation.
Yes, BRCA mutations are associated with a more aggressive breast cancer that is known as "triple negative."
I think most breast cancer experts would agree that the choice is really the patient's to make, and I really want to emphasize, it is a choice.
Preventive mastectomy is one very excellent choice. But another choice women can consider when they know they carry a BRCA mutation is early detection. And that comes with more active screening.
If a woman knows she has a BRCA mutation and does not want to have a mastectomy, a good alternative is to have a mammogram and a breast MRI every year.
You can do both at once or choose to alternate. [For my patients] I choose to alternate, doing one test every 6 months.
It's not as effective because by definition you are picking up cancer as it develops. But it is effective at picking up cancer at a very early stage.
In women at higher risk -- those with BRCA mutations -- preventive surgery can reduce the risk of breast cancer by 90%. If the [increased] risk is 80% as it is for many BRCA carriers, this can reduce the risk of breast cancer by 90%.
In other words, this can reduce the risk to that lower than the general population. The risks [of the mastectomy] are not that great. Most women having preventive mastectomies are younger patients, and many choose to get reconstruction. A lot of the risk has to do with the implants, like implant complications, or other risks [linked with surgery] such as infections or bleeding.
The women who should absolutely consider it are those who themselves have had a triple-negative breast cancer, the kind associated with BRCA mutations, at an early age, under 45, people who have had both ovarian and breast cancer in family members, and people who have breast cancer in the family and are of Ashkenazi Jewish descent.
It is a simple blood test, or they can swab the inside of your cheek. The best way to get this test is to go for counseling from a genetic counselor. Have them talk to you about the possibility of testing positive. Women really need to be counseled about what this means, what the results mean, what their risk is, and then to make the decision about whether to get the test.
If you only get tested for the three most common mutations, results take about 2 weeks. The more comprehensive test, where they do gene sequencing, can take a month.
The cost is about $3,000. The cost of testing is covered by many insurance companies [if you are deemed high risk].