Positive Results: BRCA2

My world just got rocked!! I carry the BRCA2 mutation. This indicates a probability that I will get breast and/or ovarian cancer in my lifetime. Why did I get tested? 15 years ago, my older sister was diagnosed with breast cancer. She was 40. I was 30 at the time and proceeded to have my first mammogram and started looking at and practicing a combination of Western and Eastern medicine modalities and philosophies. 7 years ago, I was referred to a high risk breast cancer group by my gynecologist to increase my surveillance―AKA screening for breast and ovarian cancer with the goal to catch breast cancer in its early stages. There is currently no effective early screening for ovarian cancer; when it is caught, it is typically in advanced stages and hard to cure. For my breast surveillance, in addition to yearly mammograms, I began having a yearly breast MRI, 2-4x yearly clinical breast exams by a practitioner and conducting monthly self breast exams. For the ovarian surveillance, I have a yearly vaginal ultrasound to check my ovaries, fallopian tubes and uterus for abnormalities and a CA125 blood test that looks for elevated CA125 protein levels which is an indicator for ovarian cancer. Again, neither of these ovarian cancer screenings ensure that we will catch the cancer early.

By 4 years ago, the number of cancers in my family scarily had increased: my father has had two types of lymphoma and prostate cancer, my mother did not survive multiple myeloma, my older sister also had cervical cancer, I had melanoma and found out my brother had melanoma many years earlier. What was in the water? It was suggested that my sister should get tested for the BRCA gene as we are also of Ashkenazi Jewish ancestry. When it comes to hereditary breast cancer, only five to 10 percent of all breast cancers diagnosed in the U.S. are thought to be hereditary. One in 40 Jews of Ashkenazi descent carries a mutation in the BRCA1 or BRCA2 gene, compared to 1 in 345 men and women in the general population. My sister tested positive for BRCA2.

2 months ago, my sister was diagnosed with a 2nd breast cancer, in her other breast. This is a common aspect of the mutation to have 2 breast cancers 15 years apart. While my surveillance has been constant ever since my sister’s first cancer diagnosis, I had to know my own situation. Knowing 100% that I’m also a carrier, I have some other choices to consider.