Angelina Jolie took the media by storm today when she announced in an Op-Ed piece in the New York Times that she had undergone a prophylactic bilateral mastectomy. She made the bold decision after she discovered she tested positive for a gene mutation that increases the risk of breast cancer.
So why does this matter? Well for one, women who carry these mutations have a highly increased risk of developing breast cancer. The average woman has a 12% lifetime risk of developing breast cancer, while women who carry the same mutation as Jolie have about a 65 percent risk of developing breast cancer. Women with the gene mutation are also at increased risk for ovarian cancer, and the breast and ovarian cancers they develop tend to be more aggressive than in women with an average risk for breast cancer. Advocates for testing point out that knowing one’s mutation status can help make future treatment decisions. Women of child-bearing age may decide not to delay pregnancy when they test positive for the mutations. Surgical options for reducing cancer risk include the prophylactic bilateral mastectomy that Jolie chose as well as potentially removing the ovaries. Regardless of any surgical options, women who test positive for the mutations are likely to undergo more frequent screenings for breast cancer including mammogram, ultrasound, or MRI.
Awareness is arguably the most critical piece of detecting and treating any disease; never underestimate the importance of getting the world out. An announcement by a high profile celebrity does far more to instantly increase awareness than any foundation or charitable organization. If you don’t believe me, just look to the media – Jolie’s story was instantly splattered across newspaper websites as well as Facebook, and Angelina Jolie is currently the top trend on Twitter.
But Jolie’s announcement requires a word of caution, as not everyone who is at increased risk will develop breast cancer. Nor is testing appropriate for everyone. As she points out, Jolie was at increased risk for the mutations since her mother was diagnosed with breast cancer prior to age 50. However, most women with breast cancer do not have the BRCA mutations, nor do the vast majority of women in the general population. While the BRCA genes (conveniently named BRCA1 and BRCA2) account for between 5 and 10% of all breast cancers, estimates are that only 0.11% to 0.12% of women carry one of the mutations. Look at those numbers closely because that means that 99.88 to 99.89% of women do not carry the gene. Clearly testing every woman in the United States doesn’t make sense, as the US Preventative Services Task Force has already correctly deduced. The real question then, who should get tested?
According to the American Society of Breast Surgeons, only high risk individuals should be tested for BRCA1 and 2. High risk is defined as a greater than 10% chance of cancer. Patients with multiple risk factors or with borderline risk are often referred to genetic counseling for more information and guidance about testing and what the results mean. More than one of the following risk factors is needed to achieve that 10% threshold:
- early onset breast cancer (diagnosed before age 50)
- two primary breast cancers, either bilateral or ipsilateral
- a family history of early onset breast cancer
- male breast cancer
- a personal or family history of ovarian cancer (particularly non-mucinous types)
- Ashkenazi (Eastern European) Jewish heritage in the setting of a newly diagnosed breast cancer or family history of breast cancer
- a previously identified BRCA1 or BRCA2 mutation in the family
Early onset breast cancer (diagnosed before age 50)
“Triple negative” breast cancer diagnosed prior to age 60 (triple negative refers to three specific markers of certain breast cancer cells including ER, PR and Her2).
Part of why Jolie’s announcement doesn’t matter is that she is certainly not the first woman to undergo a prophylactic bilateral mastectomy. Nor is she the first celebrity to undergo a double mastectomy; countless others have done so after a unilateral diagnosis of breast cancer, including Christina Applegate and Giuliana Rancic. Nor is Jolie the first to do so for purely prophylactic reasons, although perhaps not as publicly. Sharon Osbourne underwent prophylactic bilateral mastectomies last year due to a gene known to cause an increased risk of breast cancer, although it’s not clear if Osbourne carries a different genetic mutation from Jolie.
I could launch into the discussion of money and resources at Jolie’s disposal and how expensive the testing, and subsequent treatment, currently is. But that could go on for days and will ultimately devolve into a discussion of whether one likes or hates Angelina Jolie. But more importantly, that discussion degrades the understanding that this decision is faced by thousands of women, and it is a deeply personal decision. The most important part of Jolie’s announcement may be that once testing is recommended, the decision to test or not is a decision that cannot be made for you. Nor is it one to be made lightly; the results can be life changing and prompt consideration of the limited available options. One needs to ask whether knowledge really is power and how that knowledge may permanently alter life’s course.