To BRCA or not to BRCA

“You’re greatest health risk is breast cancer.”

If my doctor had said these words to me as bluntly a few years ago, I probably would have burst into tears right there in the office or driven home sobbing. As if merely saying those words out loud, a statement that I’ve known to be true for so long but that I tried to circumvent away from in my head, would have the power to bring that fear to life. But as I sat in my doctor’s office this month during a trip home, I hardly even blinked. And trust me, when you’ve worked yourself up into quite a few panic attacks on the subject, this calm in the face of a harsh but not destiny-defining reality was something to celebrate.

As I entered my twenties, I knew that I needed to be more informed about my mother’s cancer, the hard facts and details that aren’t necessarily shared with you when you’re a kid. What kind of breast cancer did she have? Was it estrogen or progesterone receptive? Up until this point, I have had more of an emotional relationship with my mother’s cancer. By that I mean that what I have experienced in relation to her illness has been through the lens of a child whose life is greatly impacted by their parent’s illness and subsequent death but who also remains fairly detached from the clinical and scientific aspects of the disease. Whenever I hear the phrase breast cancer, my immediate association is “mom,” along with a slew of images derived from personal memories, but not a disease to which my sex makes me more susceptible or some textbook explanation. Because of this, I have found that learning more about the specifics of my mom’s cancer on a scientific level breaks down this predominantly emotional experience of breast cancer and regurgitates a tightly wound package that is potentially ready to be passed on to the next generation through the genetic postal service known as DNA. To reach an age when I can no longer just think, “Oh that’s my mom’s problem, I’m still too young, I don’t need to worry about that” is a slightly overwhelming thing. So I knew I needed to investigate. But diving into her medical records and reaching out to the medical professionals who took care of her seemed like a very scary step.

Luckily, I’ve known my doctor since I was sixteen so he’s pretty aware of these fears, not to mention my family history. He’s seen me through a lot, patiently handing me tissues when I broke down in his office the summer she passed away and always being very sensitive about any of my health concerns. Inevitably, my yearly physicals always involve a conversation about my mom and her illness. The subject used to be broached very tentatively, perhaps as more of a gauge of how I was doing. Later, it evolved into discussing the right kind of birth control, self breast exams, and, now, genetic testing.

You’ve probably heard about the BRCA genes. They have received a lot of media attention in recent years as celebrities such as Angelina Jolie have opted to undergo surgery to remove both breasts and ovaries as a result of a positive BRCA test. From my understanding, these are two genes that can be passed down from either parent and that have been identified as strong predictors in a woman developing breast or ovarian cancers later on. The genes themselves are tumor suppressors, which naturally deal with destroying abnormal cells when functioning properly. However, a mutation in these genes affects this process and, therefore, increases the likelihood of a carrier’s risk of developing cancer. To put that in perspective, about 12% of women will receive a diagnosis of breast cancer and about 1.3% will be diagnosed with ovarian cancer during their lifetime, according to the National Cancer Institute. Of those who have inherited the BRCA1 mutation, 55-65% will develop breast cancer and 39% will develop ovarian cancer. 45% of women with BRCA2 mutation will develop breast cancer and 11-17% will develop ovarian cancer (NCI).

At the same time, it’s important to note that these mutations are still considered to be uncommon, with the BRCA mutations being responsible for only 5-10% of all breast cancers and 15% of ovarian cancers (NCI). Although these genes were discovered over 20 years ago, this type of genetic testing really only came into practice about ten years ago (Memorial Sloan Kettering Cancer Center). It is now offered to women with a strong family history of breast and ovarian cancer or who were diagnosed before the age of 50 (NCI, MSKCC), and many insurance companies will even cover the cost. Many women who are diagnosed with these cancers are also encouraged to receive the test in order to determine whether their form of cancer may be hereditary.

My mother was diagnosed in the winter of 1999, at the age of 40. Her cancer was already some variation (A, B, or C) of stage 3. It began as a ductal carcinoma before metastasizing in 2008. Her cancer was estrogen receptor positive, progesterone and HR2 receptor negative. I know these details now because my doctor took the time at the end of my appointment to go back into their old database and look up my mom’s chart so that I’d finally be able to answer these family history questions. He then copied and pasted it all into my chart under family history so that it will be there for any other doctor I ever have. Yeah, he’s a pretty awesome doctor. As we searched through her medical records, we found no mention of any genetic testing that she would have undergone. Obviously, if she had been tested and received a negative result, then there would really be very little reason for taking it myself (breast cancer does not run in my dad’s family).

“You know what, I’ll just contact one of your mom’s oncologists who’s still around and ask,” he offered, after scrolling through pages and pages of her file.

I looked back at him, very surprised, not because I have ever doubted that this man truly cares about his patients but because it would have been so easy to leave it at that and move on. Of course I deserve to have access to this information, I know that; but there is also a shyness in me that does not want to bother other people, with many things but especially this. Here was my doctor taking charge of getting the information I had known I needed for a long time but for which I was too afraid to reach out.

About a week later, he sent me a message saying that he had spoken with her oncologist and learned that my mom never received the BRCA test, probably because of when she was first diagnosed. He also said he had spoken with a few geneticists who said that I would certainly be offered testing but that they “didn’t feel strongly about it one way or the other.” There are a variety of preventative measures available for detecting breast cancer early, which include starting mammograms ten years before a relative’s diagnosis (age 30 for me), clinical breast exams every six months, and annual breast MRIs in your 20s. All of these recommendations have been made for me.

I tell this story for a few different reasons. The main one is to highlight the fact that in a profession where more and more demands are being placed on individuals, there are still doctors out there who care deeply about their patients’ physical and emotional well-being. Call me a sap, but I am greatly moved when the best comes out in human beings and we don’t always see a lot of coverage of this in our media. Secondly, I know that I am not the only one facing these kinds of decisions and that others face genetic testing that potentially holds certainty of death by disease. BRCA testing is not that and I never want to make it seem like that. But I hope that if you are facing some kind of health problem or family history that this will encourage you to just ask your doctor questions.

I don’t know if I will end up getting the test done or not. I don’t feel like I have to make that decision right now, at 22. As my doctor said in his message, it is something we can talk about when I see him again next year. If I were to take the test and receive a positive result, there would be options at my disposal and it might help me assess what my priorities are or will be later on. But let’s face it, right now my priorities are paying my rent and doing what is in my power to stay healthy. Of course, I wish I could talk to my mom about it. She always tried so hard with her diagnosis to walk that fine line between keeping me informed and scaring me out of living a normal, teenage life. I would value her opinion as a mother and a scientist. But that’s why it’s so good to know that I have a doctor who will have these conversations with me and go out of his way to find out more.

You rock, Dr. Z.