Getting tested for the BRCA gene mutation
by Mallary Tenore Tarpley
Note: This blog post was published in January 2012.
Cancer. It’s that ugly word that always lingers in the back of my mind. My mom was diagnosed with breast cancer when she was 36 and died when she was 40. My mom’s sister was diagnosed at age 48 and died when she was 52.
While I’ve written about my mom’s struggles with breast cancer, I try not to think about my own chances of getting the disease. I don’t do self breast exams, and I’ve always avoided genetic testing for hereditary breast cancer and ovarian cancer, which are both caused by mutations in the BRCA1 and BRCA2 genes. Mainly, I’ve been afraid of the results. My mom was scared of cancer, too. She found a lump on her breast but waited months before seeing a doctor. I remember her doctors said that during that time, the cancer likely metastasized.
My boyfriend recently started encouraging me to at least consider genetic testing. After giving it a lot of thought, I got a recommendation for a breast specialist and begrudgingly made an appointment. My primary care physician had told me I didn’t need to start getting mammograms until I was in my mid-30s, so I was surprised when the breast specialist told me that women who have a family history of breast cancer should start getting mammograms 10 years before their youngest family member was diagnosed. Since I’m 26, and my mom was diagnosed when she was 36, that would mean I’d need to start getting them now. The specialist recommended that I get a mammogram every six months and an MRI every six months. Ultrasounds are an alternative for those who are worried about exposing themselves to too much radiation, but they don’t detect as much as MRIs do.
The specialist said I seemed like a good candidate for genetic testing and suggested I go through genetic counseling first. I agreed, and recently talked with a genetic counselor by phone. She had me fill out some forms about my health and my family history of cancer, and then asked me questions that can factor into a woman’s likelihood of getting breast cancer — my height, weight, how often I exercise, whether I’m of Ashkenazi (Eastern European) Jewish heritage, and even whether I have an abnormally big head. (Yes, it turns out that your head size at birth can be a contributing factor.) The counselor said that given my family history, I’m a strong candidate for genetic testing.
Ideally, my mother would have been tested for the gene, but she never was. If she did carry the BRCA mutation, I would have a 50/50 chance of carrying it. Women who test positive for the mutation are 56-87 percent likely to get breast cancer, compared to 8 percent of the general population, the counselor said. They’re 27-44 percent likely to get ovarian cancer, compared to less than 2 percent of the general population, and they have a 5 percent chance of getting melanoma, compared to 2 percent of the general population.
The counselor told me I have a 9 percent chance of carrying the gene mutation. She also told me that my risk of developing breast cancer in 10 years is 1.933 percent, compared with .278 percent for an average 26-year-old woman. My chance of developing cancer in my lifetime (regardless of whether or not I test positive for the mutation) is 27 percent, compared to 10.253 percent for the general population.
The 27 percent, coupled with the thought of knowing I could potentially carry the mutation, is daunting. While talking with the genetic counselor, I couldn’t help but ask: Why should I get the testing? I’m a worrier. If I test positive, will I just spend the rest of my life worrying about getting cancer and not being able to do anything about it? What options will I have? The counselor gave me a comforting response, saying something to the effect of: “I understand where you’re coming from. I’m a worrier, too, but I’ve found that sometimes the unknown is scarier. If I know what to worry about, then I can at least try to isolate the problem and be proactive about it.”
There are a few options for someone who tests positive for the gene mutation. The most extreme option is to have a double mastectomy, which nearly eliminates a woman’s chance of ever getting breast cancer. Some women also get their ovaries removed. The other option (which the counselor recommended I follow even if I test negative) is to get a mammogram every six months and an MRI every six months. There are also online support groups, such as BeBrightPink.org, for women who want to be proactive about their breast and ovarian health.
The cost of genetic counseling — about $3,500 — is understandably a deterrent for some women. I called my insurance company and found out that it will pay for most of the procedure. I also learned that because of the Genetic Information Nondiscrimination Act (also known as the “GINA act”), my insurance company can’t deny me coverage if I have a genetic predisposition to developing cancer. Because my insurance company will pay for most of the testing, I decided to pursue it.
On Tuesday, I got a call from my breast specialist’s secretary, asking me if I wanted to make an appointment to get tested. I said sure, not realizing that she was going to tell me I could get tested the following day. I scheduled the appointment and then wondered if I’d made the right choice. Wednesday morning, (tomorrow) I’ll get tested. It’s a simple test that will only take about five minutes. Within a week or two, I’ll know if I carry the gene mutation. From there, I’ll decide what to do next.
It would be easy for me to keep avoiding the testing, but I think it’s ultimately better for me to know my risks rather than living in fear of the unknown. Regardless of whether I carry the gene mutation, I’ve told myself that I’m going to start getting regular screenings and start doing self breast exams. My mom, no doubt, would want me to.