We all know people who have battled breast cancer, who have courageously withstood major disruptions to their lives, and who have endured surgeries and treatments with awful side effects. But it is not widely known that some breast cancers are caused by a gene mutation. Finding out she had the gene mutation after she got cancer has inspired Emily to crusade for genetic testing and preventative treatments. Here is Emily’s story:
When Emily was first diagnosed with breast cancer through a routine mammogram and ultrasound in 2021 at the age of 50, her doctors told her they had caught it early and recommended a lumpectomy followed by radiation. They had to wait for a final biopsy result and an MRI before finalizing the plan.
The team of doctors asked Emily if she wanted genetic testing. She agreed but didn’t think it would show anything. Her mother was treated for breast cancer in 2006. Emily had heard there was a gene associated with breast cancer and asked her mom’s surgeon if she should be worried about it. He told her that her mom’s cancer was not genetic. By his response, both Emily and her mom assumed that she had been tested and was negative.
Two weeks later Emily’s test results were in. You can imagine Emily’s shock and dismay when her BRCA2 test was positive for the genetic mutation. By divine coincidence, Emily’s mom had an appointment with her oncologist the following day. Both mother and daughter went and asked if mom had been tested in 2006. (There was a chance perhaps the gene came from Emily’s dad). Another shock. Emily’s mother had never been tested! The oncologist could give no good explanation as to why it was never done. She ordered the test that day. It came back positive.
In case you are not familiar with the BRCA gene mutations, here is a quick explanation: BRCA stands for breast cancer gene. BRCA1 and BRCA2 are tumor-suppressing genes that help to prevent breast cancer. Everyone has these genes. People who have a mutation in the gene lose the protective properties of the gene and are at a higher risk for melanoma, pancreatic, stomach, prostate, and most dramatically--breast and ovarian cancers. (NBCF 2016)
Testing positive for BRCA2 was a game-changer for Emily’s treatment. Her biopsy came back the same day as her BRCA2 result, and her cancer was triple positive. Both combined were the perfect storm. A lumpectomy was off the table. Her doctors now recommended 5 months of a strong chemo and immunotherapy regimen followed by a double mastectomy. This would then be followed by 36 more weeks of immunotherapy infusions. She just rang the bell!
Next is a hysterectomy (to block estrogen and prevent ovarian cancer) and 10 years of hormone blockers. Emily will be screening for pancreatic, stomach, and melanoma cancers for the rest of her life
Look at these statistics for BRCA1 and BRCA2-related cancers:
- The risk for a woman without BRCA1 or BRCA2 gene mutation to develop breast cancer within her lifetime is 12%. With a BRCA2 mutation, it’s 45-85%. If she develops breast cancer, she has a 34.6% risk of developing cancer in the other breast within 10 years.
- The risk for ovarian cancer in the general population is 1%; with the BRCA2 gene mutation, it is from 11 to 18%.
- Pancreatic and melanoma cancer risk is increased, and prostrate for men (Review of BRCA1/2 Analyses with Cancer Next, n.d.)
The BRCA gene mutations run in families. If you test positive for one of the gene mutations, there is a 50/50 chance that you will pass it on to one of your children. The gene does not skip generations. If your child tests negative, the gene mutation cannot be passed on. ("10 Things to Know About BRCA Genes" 2016)
“Finding out that you have a BRCA gene mutation can feel like a death sentence," Emily said, “like your life is a game of Russian roulette. You are just waiting for a positive cancer result. It feels like a ‘not if, but when’ situation.”
But Emily is determined to flip the narrative. She wants to spread hope. Finding out you have a gene mutation before a cancer diagnosis opens the doors to preventative options. Options that weren't available to previous generations. The BRCA genes were not discovered until 1994, and tests became available in 1996. (Hurst 2014). Before this time, people could observe that breast and ovarian cancers ran in families, but there were no tests or interventions available.
Here are some recommendations for carriers of BRCA1 or BRCA2:
- Start thorough breast screenings with MRIs and mammograms at the age of 25 as well as pelvic exams for ovaries.
- Undergo a preventative double mastectomy.
- Have your ovaries and fallopian tubes removed when you are done bearing children.
- Consider drug therapy options available, such as tamoxifen.
- Screen regularly for pancreatic, stomach, prostate, and skin cancer for early detection and prevention.
- Clinical trials are available and new treatments/preventatives are in the pipeline. (“Getting Genetic Test Results,” n.d.)
- There is even a vaccine in the works to prevent cancers for those who test positive for BRCA1/2! (“New Generations of Cancer-Preventing Vaccines could wipe Tumors before They Form,” n.d.)
Even if you already have cancer, knowing you have the gene mutation can help you make better treatment decisions. Consider Emily’s situation. If she hadn’t been tested and had gone through with the lumpectomy and radiation, she would have thought she was cured. She would not realize the high risk of her breast cancer returning, a new breast cancer occurring, or the chances of getting a different cancer such as ovarian, melanoma, or pancreatic.
“I wish so much I had known I had the gene mutation,” Emily said. “My mother should have been tested; we blindly trusted her doctor who told us the cancer was not genetic.
“I would have had preventative mastectomies and a hysterectomy in a heartbeat at a much younger age when I was healthy instead of waiting until I was sick with cancer. Then I would have been spared all the side effects of chemotherapy. It has affected my bones, my heart, and my veins, and has been such a disruption to my whole family. It affects everything!”
With the drastic implications involved in having a BRCA gene mutation, you would think that testing would be widespread, but that is, in fact, not the case. Again, consider Emily’s case. Her mother fell through the cracks when she was diagnosed, and when Emily was diagnosed with breast cancer, genetic testing was suggested as a mere option, not presented as a critical part of her treatment or family history.
Emily is on a campaign to spread the word that all breast cancer patients absolutely should be tested. If a patient has a positive test result, they need to encourage their family members to get tested as well. If the family members are positive, they can take preventative steps. This could prevent cancer and save lives.
“I’m spreading the word about genetic testing; I don’t want all that I went through to be in vain. At least something positive can come out of it. Maybe I can prevent someone else from experiencing the sickness and heartache of cancer. I’ve started with my own family. I’ve encouraged them all to test. We’ve had 4 negatives and 3 positives so far. Those who have tested positive are taking the steps needed to prevent ever getting cancer. We want to see BRCA previvors, not just survivors!” Emily said.
As we celebrate Breast Cancer Awareness Month, I encourage you not only to stay updated with all your screenings but please, to consider Emily’s story, and encourage anyone you know who has a history of breast cancer in their family to get tested for the BRCA genes. It could save their or a family member’s life. Knowledge is power!
*Here is a great resource recommended to me by a reader: Global Breast Cancer Resources for Patients, Survivors, and their Families.
“Getting Genetic Test Results.” n.d. Www.breastcancer.org. https://www.breastcancer.org/genetic-testing/getting-results.
Hurst, Jillian H. 2014. “Pioneering Geneticist Mary-Claire King Receives the 2014 Lasker~Koshland Special Achievement Award in Medical Science.” Journal of Clinical Investigation 124 (10): 4148–51. https://doi.org/10.1172/jci78507.
NBCF. 2016. “BRCA: The Breast Cancer Gene :: The National Breast Cancer Foundation.” Www.nationalbreastcancer.org. 2016. https://www.nationalbreastcancer.org/what-is-brca.
“New Generation of Cancer-Preventing Vaccines Could Wipe out Tumors before They Form.” n.d. Www.science.org. https://www.science.org/content/article/new-generation-cancer-preventing-vaccines-wipe-tumors-form.
Review of BRCA1/2 Analyses with Cancer Next. n.d. Ambry Genetics. CancerNext v5.5_Positive BRCA2_07_14_2020.pdf
“10 Things to Know about BRCA Genes.” 2016. Txo. 2016. https://www.texasoncology.com/services-and-treatments/genetic-testing/things-to-know-about-brca-genes#:~:text=If%20you%20have%20a%20BRCA.
*Credit for background image- Image by Freepik.