I am a breast cancer survivor of nine years. Before my diagnosis, I knew of individuals who had survived breast cancer. I also knew of women who had died of breast cancer. None was a family member.
Being diagnosed with any type of illness can be overwhelming. The terminology is complex, and the process from diagnosis to treatment generally moves slowly. With cancer, the process from diagnosis to treatment moves fairly fast, and the pace can be challenging because decisions often need to be made relatively quickly. Thankfully, my stage 1 cancer was detected early, had not spread to my lymph nodes, and was not aggressive. In most cases, the course of action would be a lumpectomy followed by radiation.
However, because I am a quadriplegic, I cannot feel heat, which made radiation dangerous for me. Therefore, I had a mastectomy with no follow-up treatment. I was advised to undergo genetic testing to see if I carried a BRCA mutation that could have led to my cancer. This testing also would inform my sister about any genetic predisposition to cancer that might be present in our family.
Thankfully, I am not BRCA positive, but as a breast cancer survivor, I inevitably meet other survivors and have learned that many of them, including some who are close to me, are BRCA positive, meaning they carry a mutated or “broken” BRCA gene that doesn’t work properly and thus doesn’t protect them the way it should from developing certain types of cancer.
I wanted to learn more.
In all honesty, I had never even heard of BRCA mutations and was unaware of their consequences. Since then, I have read up on the topic and have learned through friends much more about the BRCA gene, whose name comes from the disease it causes: BReast CAncer. I also learned that everyone – women and men – has BRCA genes, but individuals born with an inherited mutation in one of these genes have an increased lifetime risk of developing breast cancer, as well as ovarian and other types of cancer, including pancreatic, melanoma, and, in men, prostate cancer.
The most surprising information I learned is that BRCA mutations are approximately 10 times more prevalent among Ashkenazi Jews – those whose descendants came from eastern and central Europe – than they are in the general population. This phenomenon is known as the “founder effect.” According to the National Institutes of Health’s National Human Genome Research Institute, “[t]he founder effect is the reduction in genetic variation that results when a small subset of a large population is used to establish a new colony.” Although there are roughly 10 million Ashkenazi Jews worldwide today, the entire population is descended from a group of about 350 people who lived approximately 25 to 32 generations ago or 600 to 800 years back.
According to the Centers for Disease Control and Prevention, about 1 in 40 people of Ashkenazi Jewish descent in the United States carries a BRCA gene mutation (as compared to 1 in 500 in the general population). What’s more, although there are thousands of different BRCA mutations within the general population, the majority of those carried by Ashkenazi Jews can be classified as one of only three different “founder mutations.”
So, what should you do with this information?
I’m not a genetics or breast cancer expert, but in my 36 years as a quadriplegic I have had numerous instances in which I was very sick and had no control over my diagnosis or treatment. The mere fact that I am still alive after more than three decades is unusual, especially because many of my medical complications are not well researched, and little data or other protocols are available to assist my medical team.
Having said that, there are many resources at your disposal, and it’s up to you to act and advocate for yourself and relatives if you suspect there’s an inherited genetic mutation in your family:
- Genetic counseling is a must. Information is powerful and it gives you a certain level of control. A certified genetic counselor can assess your family and personal history, and, if you opt for genetic testing, help you interpret the results and, if necessary, develop a risk management strategy. The National Society of Genetic Counselors can help you find a genetic counselor near you.
- Genetic testing, if you opt for it, is non-invasive and, depending on your family and personal history, may be covered by your health insurance company.
- If you find you carry an inherited genetic mutation, several organizations provide information, support, and other resources, including Sharsheret, a Jewish breast cancer organization and FORCE: Facing Our Risk of Cancer Empowered, which welcomes anyone, including men, who is affected by an inherited genetic mutation.
Although the hereditary cancer community is not a group anyone wishes to join, being proactive and educating yourself can help you find your path to a healthy, high-quality life. Act now.
October is Breast Cancer Awareness Month. To learn about ways to detect breast cancer early, when it is most curable, take a look at this blog post: “Social Media Doesn't Detect Breast Cancer, Mammograms Do.” For more information about genetics related to the Jewish community, check out “7 Things to Know About Jewish Genetic Diseases.”