Learning I Had a BRCA1 Mutation Changed My Breast Cancer Risk

Never had I ever heard the term BRCA until I turned 42. That year I had the second mammogram of my life which resulted in an abnormal finding. This required a biopsy and eventually a lumpectomy.

I was referred to a breast care specialist. That same summer my maternal aunt was diagnosed with breast cancer and my maternal uncle was diagnosed with colon cancer. My mother is also a survivor of ovarian cancer. When my doctor heard all of this, she asked, “Has anyone ever been tested for BRCA?” “BRCA, what’s that?” I would quickly learn that BRCA (Breast Cancer) is a gene (BRCA1 and BRCA2) that we all carry. A mutation in BRCA1 or BRCA2 is associated with an increased lifetime risk of certain cancers, including breast and ovarian cancer, though not everyone with a mutation will develop cancer.

A BRCA1 mutation is associated with an estimated higher lifetime risk of breast cancer and ovarian cancer compared with the general population, along with a possible increased risk of other cancers such as colon cancer.

I also learned that both my aunt and uncle had just found out that they carry the BRCA1 genetic mutation. I was now a candidate to have genetic testing.

Never had I ever been grateful for genetic testing. Having been given the option to see if I also carried the BRCA gene mutation, I now had to make a choice. Do it or don’t. Would I discover if there was something more than being BRCA positive? Would I find a different chromosomal abnormality that hadn’t yet been discussed with me? Would I be free of the imposition of an inherited genetic mutation? This was a scary and nerve-wracking time when all I had was hope. Hope that this family trait skipped me.

Once you know, you know — I had the BRCA1 genetic mutation. This information allowed me to decide whether I wanted to be proactive and consider preventive options, such as risk-reducing surgeries like salpingo-oophorectomy or bilateral mastectomy, or continue with increased surveillance such as more frequent mammograms and breast MRI screening, based on discussions with my care team.

Never had I ever felt so alone when I found out that I carried the BRCA1 gene mutation. Yes, the chances indicated that I was at a higher risk of developing cancer, but risk does not mean a person will definitely develop cancer. Maybe I could wait, as I was only in my early 40s. My mother was in her late 50s when she found her cancer as were her siblings. I wanted desperately to connect with anyone who had waited to have preventive surgeries, to know that I could wait too and not have my life and body altered so soon. When I searched the internet looking for answers to my worries and concerns, all I found was statistical data. Now, after being fully recovered I have found a community online where people are sharing their stories and together, we are making a difference.

Never had I heard of the phrase “biopsy fatigue.” Biopsy fatigue is the anxiety that can come from repeated mammograms, MRIs, biopsies or lumpectomies when a person is at higher risk of breast cancer. The emotional stress of waiting for results and the physical recovery after procedures can both be exhausting.

Never had I thought that I would have my healthy breast tissue removed to stay cancer free. I am what is known as a “previvor,” a term sometimes used to describe someone who carries a cancer-related genetic mutation but has not been diagnosed with cancer. After my first lumpectomy scar and after a lot of thought, research and conversations with close family and friends, I elected to undergo a bilateral mastectomy.

It wasn’t easy. Recovery from surgery, weekly expansions and sleeping on my back were challenging, but once the final implants were in, I could fully heal physically and eventually mentally. It took time, patience and a lot of grace.

Never had I thought that I would have my ovaries and fallopian tubes removed and be okay. Unlike my breasts, there are usually no visible scars from this type of surgery. My journey for this procedure was not straightforward, but I learned to advocate for myself. I kept working to find the right doctor for me and to obtain hormone replacement therapy (HRT) when appropriate for my situation. It was a long road to my new normal, but worth it in the end.

Never had I ever thought about my children inheriting this gene. People who carry a BRCA mutation have a 50 percent chance of passing it to each child. Having three beautiful and healthy children who are too young for genetic testing, I have hoped, as I am learning to accept this truth, that my unborn children were the ones who inherited this genetic mutation. While there is no guaranteed way to prevent passing on this gene, options such as preimplantation genetic testing (PGT-M) may be discussed with a fertility specialist for people who want to reduce the risk of transmission. At least I know what to ask as a patient, how to support as a caregiver and how to love as a mother.

This piece reflects the author’s personal experience and perspective. For medical advice, please consult your health care provider.

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