Hereditary Cancer and Complicated Choices

Angela Jolie cut her breasts off.

The real story, of course, is a bit more complicated than that. Jolie, a famous actress and humanitarian who lost her mother to ovarian cancer, revealed this week in the New York Times that she had a preventive double mastectomy to decrease her breast cancer risk. In other words, Jolie had both of her breasts surgically removed to minimize her chances of developing cancer.

As Jolie reveals in the article, her risk of developing breast cancer was high. Her mother battled breast cancer before developing and succumbing to ovarian cancer. According to the Susan G. Komen Foundation, a woman who has an immediate female family member with breast cancer has twice the risk of developing breast cancer as the theoretical “average woman.” Please remember, though: that’s an average risk. Any particular woman’s risk of breast cancer depends on a multitude of factors, and a woman’s risk of developing breast cancer, even given a family history of breast cancer, varies.

Jolie’s risk was particularly high because she has a BRCA1 mutation. You may have heard of BRCA1 and BRCA2, the two most famous so-called “breast cancer genes.” That term, “breast cancer genes,” is actually a misnomer because the truth is that everyone has a BRCA1 and BRCA 2 gene. (And because both BRCA1 and BRCA2 mutations are also linked to ovarian cancer.)

Normally, BRCA1 and BRCA2 are tumor suppressor genes – they help prevent cancer by repairing cell damage. But some people don’t carry the normal version the BRCA1 or BRCA2. Instead, they have a mutated version of the gene, and that mutation makes them particularly prone to cancer because the gene doesn’t do its usual job – keeping cancer at bay – very well.

Jolie has a BRCA1 mutation, which dramatically increases her odds of developing breast cancer. In her New York Times article, she says that doctors estimated her breast cancer risk at 87%. Having her breasts removed decreases her risk to less than 5%.

The child and mother in me understands her decision. Like Jolie, I grew up in a family with a strong family history of breast cancer. I have watched my mother struggle with breast cancer (and ovarian cancer). I have a known BRCA mutation; in 2006 or 2007, I tested positive for a BRCA2 mutation. And like Jolie, I am scared to death of developing cancer. I have small children too. I want to be around for a long, long time.

But the nurse in me wants people to understand that dealing with hereditary cancer risk is much more complex than Jolie’s NYT article made it seem. Consider:

• A BRCA mutation does not guarantee cancer. Not everyone with a BRCA (or other cancer-related) mutation develops cancer. No one knows why some develop cancer, and some don’t.

• Every medical procedure entails risk. All medications, all surgeries, and all medical tests and treatments come with both risks and benefits. Breastcancer.org has a great run-down of mastectomy risks, and the risks aren’t insignificant.

• Other prevention options exist. Jolie’s article doesn’t even mention the other risk-reducing options available to women who have a high-risk of developing breast cancer. Tamoxifen and raloxifene are two medications that are FDA-approved to reduce breast cancer risk in high-risk women; other meds and non-surgical risk reduction techniques are currently being studied. Surgically removing the ovaries, especially before menopause, has also been shown to decrease breast (and ovarian) cancer risk.

• Increased surveillance is an alternative. Preventive action isn’t necessary. Some people with an increased risk of cancer choose to carefully watch and monitor the situation instead. In the case of breast cancer, increased surveillance may mean starting mammograms earlier than the normally recommended age, or having them more frequently, and/or combining mammography with other breast cancer screening techniques, such as MRI and ultrasound.

While I applaud Jolie’s decision to share her story, I’m concerned that some women will read her article and think that a double mastectomy is their best (or only) option to decrease breast cancer risk. It’s not (necessarily).

Jolie writes, “I…encourage every woman, especially if you have a family history of breast or ovarian cancer, to seek out the information and medical experts who can help you through this aspect of your life, and to make your own informed choices,” and I encourage women to take those words seriously. If you’re concerned about your cancer risk, talk to a medical doctor about your family history and personal cancer risk. Work with medical experts and ask questions – lots and lots of questions – about your risk and options.

by Jennifer L. W. Fink RN-BSN