Musings of a Marfan Mom

Vicky’s Story, Part 3: BRCA Gene Testing in Marfan Syndrome


Click the links to view part one and part two.

Less than 18 months after my aortic root repair, a routine mammogram found another breast cancer – on the other side. Another mastectomy with implant reconstruction followed. I began to wonder, could I have one of the BRCA gene mutations that predispose women to develop breast cancer? Especially since my mother had died at a young age of ovarian cancer (another cancer more common in women with these mutations) and now I had chalked up two distinct cancers, both before menopause. I briefly agonized about the implications of knowing my BRCA mutation status, talked things over with a genetics counselor, then took the plunge and got tested. I was positive.

Marfan is caused by a genetic mutation in the fibrillin gene. Independently, because of an inherited mutation in the BRCA gene, I had been at increased risk of developing breast cancer. Two distinct gene mutations associated with two distinct disorders. Was this random, my getting breast cancer on top of Marfan, just plain bad luck, or was there another way to make sense of it?

Medical researchers do not believe that typical exposure to diagnostic radiation, like X-rays, mammograms, or CT scans, makes you more likely to get breast cancer later in life. But a single new study from September 2012 in the medical literature suggests that, in women with BRCA gene mutations, exactly such radiation exposure, especially under age 30, increases their risk for developing breast cancer.

As Marfan women, we often accumulate an impressive number of chest X-rays and CT scans, sometimes starting at a very young age, to monitor aortas and hearts. I know that I did. Perhaps my own exposure to these diagnostic tests at a young age, given that I carried the BRCA gene mutation, had contributed to my getting breast cancer.

How can we respond to this information, as women, and as mothers of girls, with Marfan syndrome? Some general guidelines from my own experience:

1. Be familiar with red flags for BRCA gene mutations. The Mayo Clinic health information website lists possible red flags that might indicate the presence of a BRCA mutation in your family.

2. If your family has BRCA red flags, consider discussing them with a qualified genetic counselor, and the pros and cons of testing.

3. If you do choose to be tested for BRCA gene mutations and are positive, tell your medical team, including your Marfan provider/cardiologist, gynecologist, and primary care clinician. Talk over your preference to avoid, when possible, radiation from CT scans, chest X-rays, and mammograms. Possible strategies: MRI could be chosen to monitor the breasts, rather than mammography; MRI or echocardiogram could be used to monitor the aorta, rather than CT scan; and X- rays involving the chest could be minimized.

A caveat: When tests involving chest radiation are necessary emergently, to save life, or when they are uniquely appropriate compared to other options, they might still be used, whether or not the woman has a BRCA gene mutation.

Perhaps we will see more research in this area in upcoming years. As a Marfan woman with breast cancer and a BRCA mutation, I will be following this with interest. I would love to hear your stories as well.

The opinions offered at Musings of a Marfan Mom are for informational purposes only and are not intended to be a substitute for professional medical advice, diagnosis or treatment. Always seek the advice of a qualified healthcare provider with any questions you may have regarding Marfan syndrome and any medical condition. Never disregard professional medical advice or delay in seeking care because of something you have read here.

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