I Pursued Genetic Testing for Cancer: One Woman’s Story

What if you could supply a blood or saliva sample and know if you were at risk for certain kinds of cancer? With advances in genetic testing, there is a way—and it’s available to you now. 

Hereditary Breast and Ovarian Cancer Syndrome (HBOC) is a hereditary cancer syndrome that occurs when an individual inherits a mutation in the BRCA1 or BRCA2 genes. This condition increases the risk for breast, ovarian, pancreatic, and prostate cancers and melanoma (skin cancer). And with genetic testing, you will be able to know if you have a mutation in the BRCA gene, increasing your risk for HBOC. 

Although HBOC is rare—it affects less than 1% of the population—it is linked to 5 to 10% of breast cancers in women and around 15% of ovarian cancers in the U.S. every year. If you find out you have a BRCA1 or BRCA2 mutation, you may be able to take some preventive measures to reduce your risk for cancer or increase your chance of catching cancer early, when it is most treatable.

“There’s value in BRCA genetic testing if you are a healthy person with a strong family history of BRCA-related cancers, or if you have been diagnosed with a cancer associated with BRCA,” says Smilow Cancer Hospital medical oncologist Erin Hofstatter, MD. “For the healthy patient with a positive genetic result, there’s a lot that can be done with screening and prevention, starting as young as 25 years old. For those with cancer, certain drugs and treatments appear to be more effective in patients with BRCA mutations. We are essentially providing more personalized medicine.” 

The patient (whose name was removed to protect her identity) in the interview below was diagnosed with breast cancer in 2013 and was found to have a mutation in the BRCA1 gene in 2020. 

She shares her journey of genetic counseling and genetic testing, as well as her experience living with this diagnosis.

My experience with genetic testing did not begin with my breast cancer diagnosis, which occurred eight years ago when I was 56. Instead, the process began last year during a follow-up oncology visit. At the time, I had a very good prognosis; I was feeling very secure that I had beaten cancer—it was caught early and treated with a lumpectomy, chemo and radiation, and ongoing aromatase inhibitors. Having no family history of breast cancer also bolstered that confidence. But I had mentioned to my oncologist that my two brothers had been recently diagnosed with melanoma. She took that as a signal to recommend genetic testing to me.

My genetic counselor walked me through the testing process. Initially, the conversation was about how I would feel about getting the test results. It’s a very personal decision. A positive result for a genetic mutation might be like opening Pandora’s Box, with so much to learn and so many decisions to make. Not everyone wants to know this information. 

I remember what it was like to learn that I would need breast cancer treatment. But I didn’t know what it would feel like to learn I was at a greater risk than the general population for other cancers. Would waiting for another cancer to appear become a huge worry I would have to live with for the rest of my life? Would the results impact my ability to get life or health insurance—or make it unaffordable?

For me, the opportunity to learn more about my health risks and open new opportunities to reduce them was worth more than these concerns. Knowing my risks would help me make better decisions and feel a little more in control of my health, while acknowledging that there are still so many things out of my control.

The day finally arrived. The results came back: I was positive for the BRCA1 gene mutation. It took me totally by surprise.

My earlier confidence about remaining cancer-free was deeply shaken. What did this test result mean? As I did after receiving a breast cancer diagnosis, my first reaction was to learn all I could about BRCA1. I read books, surfed the internet, reached out to support groups. My genetic counselor spent time on the phone with me answering questions. Because this was a genetic condition, my thoughts then turned to where else in my family this would turn up. I kept hoping I was the only one with the mutation as I shared the results—first with my three sons, and then with my mom and four siblings.

I shared information about getting tested. The lab had a policy where they would test my immediate family members for the BRCA1 gene for free. When my mom tested negative, it was very reassuring for the many relatives on that side of the family. My dad died of lung cancer in 2001. There are not a lot of relatives on his side of the family, but since his only brother had died of prostate cancer, the genetic counseling team determined that the gene must have come from that side of the family, so I also shared my news with the few relatives on that side.

We discovered that a couple of family members also had the BRCA1 mutation. Family members were quick to let me know what a positive experience it was to work with a genetic counselor in processing this new information.

Armed with this new information, the next step involved what preventive steps I could take. For me, the decision to have a salpingo-oophorectomy (the removal of both the ovaries and fallopian tubes) was at the top of the list. I had already been through menopause, so for me it seemed like the right decision to get that done and out of the way. I had the surgery and have had no regrets. I also weighed the risk of uterine cancer against the more involved hysterectomy surgery and decided against a hysterectomy. 

I knew I was going to need more time to explore the option of preventive bilateral mastectomies versus surveillance. Part of my hesitation was that I did not seem to fit the more compelling BRCA1 profile. I didn’t have female (or male) relatives with breast cancer. My cancer was not the more-common triple-negative cancer associated with BRCA1; mine was ER+ /Her2(neu)+.

The breast cancer risk numbers given are for a first cancer diagnosis. I did not know if the risk was the same for a second breast cancer (new or recurring). I was told that my risk, in percentage terms, at my current age (64) would be less than someone thirty years younger with so many more years ahead of them. Another factor was that I have been taking an aromatase inhibitor to reduce risk of ER+ cancer. Side effects for me have been minimal, and I plan to stay on this preventive medication as long as they will let me. Whether this reduces my risk is not clear, but I am hopeful.

I was very uncomfortable about the seeming lack of data and support specific to people who are older, have no family history, and have already been successfully treated for breast cancer. My risk is certainly higher than the general population, but I am hopeful it is lower than those with the highest risk factors.

So for now, I have chosen surveillance, which means having to alternate mammograms and breast MRI’s every six months. It means monthly self-exams, and having any suspicious symptoms checked out. It also means I haven’t reduced my risk to 5%, but live with the hope that if cancer returns, it will be early and small and more easily treated. I exercise and keep my diet as healthy as possible.

Another factor in my decision is the physical impact of surgery to remove my breast tissue. When consulting with my breast surgeon, their advice was: “Do not do this because a doctor tells you to do it. You have to make it your own decision and you have to be comfortable with it. Take your time.”

I took that to heart. I still have many questions. Recovery from surgery will likely get more difficult as I get older. Is it worth it to wait? What impact does the surgery have on my lymph system as many lymph nodes will be removed? Will Medicare pay for preventive surgery when I eventually retire, or do I have a time limit for optimal coverage while I still have health insurance from my employer? Am I ready to accept the lack of sensation and altered body image? How would this impact my sexual health?

I found a resource in the organization called FORCE (Facing Our Risk of Cancer Empowered). They provide a wealth of information, including online support meetings and message boards, as well as being matched with a peer navigator who had a similar experience. I have not found many people whose experience and approach is similar to mine. It would be nice to find a support group with people like me. My hope is that there will be studies done on those who chose surveillance, or who did not get cancer by the time they were 70 or older. 

I hope my story helps other people in my situation, wherever they may be in their decision-making process. As difficult as it was to learn that I have this genetic mutation, I am grateful that my oncologist suggested genetic testing. I know my family members are also grateful to have that knowledge about their health.