Carrying the 'Breast Cancer Gene': Now What?

By Anonymous
Two years ago, I tested positive for the BRCA1 gene – this is the genetic abnormality whose presence is strongly linked with developing certain cancers. Having BRCA1 gives me an 80 percent lifetime risk of developing breast cancer and a 40 percent lifetime risk of developing ovarian cancer. I am 25 years old and know that -- if I live long enough -- I will likely get some form of cancer.
Now I am left wondering what I should do with this information. There are preventative measures I can take: mammograms, Magnetic Resonance Imaging (MRI) and ultrasound to detect breast cancer; and transvaginal ultrasound and a CA125 blood test to detect ovarian cancer. More drastic measures include prophylactic mastectomy and oophorectomy, in which one or both breasts and ovaries are removed, respectively.
I went for genetic testing because my mother tested positive for the BRCA1 gene after having breast cancer in her mid-30’s and ovarian cancer in her 50’s. She ultimately died of ovarian cancer. After we learned my mother’s results, I knew I had a 50 percent chance of also carrying the gene. Not everyone who is high-risk chooses to be tested, but I felt that the more knowledge I had, the more control I would have.
I got my results two weeks after my mother died. I went to see the genetic counselor and we went over the consequences of testing positive; she asked me repeatedly whether or not I wanted the results. After assuring the counselor that I was ready, she pulled out an envelope. No one, including the counselor, knew the results until that moment, and this created more tension and suspense then I had expected. She opened the envelope like they do when announcing the winner of an Academy Award, and I was the ‘winner’ of the BRCA1 gene.
We went through my options and issues of confidentiality. I was told not to tell anyone except very close friends. Even when I go to the doctor, she is not supposed to write it in her file. This raises the issue of whether or not to tell friends and family that I have the BRCA1 gene. As of now, insurance companies are not allowed to ask for genetic results, but in the future, they may. What insurer would cover me if they knew my cancer risk was so high? If employers know that I am positive, will they still want to hire me? I am single, and wonder when the right time is to disclose my secret to a potential partner. Will someone want to marry me knowing that I have a good chance of getting cancer or that I may have a prophylactic mastectomy? It is for these reasons that my name is not on this article. S
hortly after I got my results, I went to the oncologist. Many thoughts were racing through my head. I had researched any articles written on the topic of breast cancer and genetic predisposition, but found that there were inconsistencies between studies. I hoped that the oncology appointment would provide clarification. Unfortunately, it didn’t.
At the time, I was on the Pill and wanted to ensure that continuing it would not affect my risk. I was told that taking the Pill for a few years is important because it may help reduce my risk of getting ovarian cancer, but taking it for too long may increase my risk of developing breast cancer. “What is too long?” I asked. The oncologist didn’t know. She did reassure me, however, that since breast cancer is easier to detect, it is better to be at an increased risk of breast cancer than ovarian cancer. I can tell that I’m postponing making a conscious decision, considering it’s been two years, and I’m still on the Pill. Every month I decide to go off it, but never do. Other helpful hints included not eating soy products because they contain estrogen, which can affect estrogen-receptive cancers (this is problematic because I am a vegetarian) and drinking green tea. Research has not actually proven these actions to be helpful; they are merely suggestions.
My most pertinent questions are related to having children and prophylactic surgeries. I shared with the oncologist my concern about whether or not I should make a conscious effort to try to have children sooner, rather than later, so I can have an oopherectomy shortly thereafter. She dismissed my questions as irrelevant and beyond my control. But, most research and clinical experiences are based on patients who have already had cancer, have had children, or have gone through menopause. The issues that I am facing are different than for someone who is older, and at a different stage of life. Sadly, there isn’t much research to guide my decision-making.
It’s been almost two years since I got my results and I am learning to live with the biannual checkups and tests. I still think about how this information will affect my future; occasionally I panic at how little time I have left before I will have to make more significant decisions about my health. I know that I will likely get cancer. I know the potentially life-changing information that I carry the BRCA1 gene, but my most pertinent concern is: where do I go from here?
This article was written by a former NWHN intern who is concerned about women's health issues.