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.”
Why do women undergo a
preventive double mastectomy?
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.
How many women have the
BRCA mutation?
Only about 5% of all breast cancers are in women who have this genetic
mutation.
Is the breast cancer
linked with this mutation more aggressive than others?
Yes, BRCA mutations are associated with a more aggressive breast cancer
that is known as "triple negative."
Do some experts think
that performing a double mastectomy is too radical for those who test positive
for BRCA mutations?
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.
If a woman has a
preventive double mastectomy, what are the benefits and risks?
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.
Who should consider BRCA
testing?
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.
What is involved in
testing for BRCA mutations?
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.
What is the cost and who
pays?
The cost is about $3,000. The cost of testing is covered by many insurance companies [if you are deemed high risk].
By Kathleeen Doheny
WebMD Health News
Reviewed by Michael W. Smith, MD
