Confronting the Shock of a Triple-Negative Breast Cancer and BRCA1 Mutation Diagnosis

When I came across two masses in my breast, I tried convincing myself that it was nothing. But I was sure it was cancer.

I was never considered “high risk.” I had never even thought about breast cancer that much.

I knew my grandmother had died of breast cancer at 40. She was diagnosed at age 38 and died 2 years later. She was the only person that I knew of in my family who had lived with breast cancer.

My mom hadn’t had any big health concerns and her yearly mammograms always came back negative. I hadn’t started having mammograms, because I was young and my doctor didn’t see it as necessary yet.

I’ve had an incredible life: I’ve been married to my best friend for 17 years and we have 2 amazing sons. I met my husband Morgan while we were both serving in the United States Air Force and we were working at the same hospital. I was an X-ray technician when we met, but since then I’ve continued my schooling and now work as a sonographer.

For the past 19 years, I have been working in radiology — half my life! Despite working in medicine, and being in radiology in particular, breast cancer stayed far from my mind until December 2020.

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First steps

2020 was a hard year for many; I spent the majority of the year performing ultrasound exams on COVID-19 patients at Vanderbilt Medical Center, a large Level 1 hospital.

On December 8, 2020, as I was getting ready for work, I felt a lump in my right armpit. It didn’t hurt, it just felt like fullness under my arm. It wasn’t red or irritated looking, it was just a large mass.

As a sonographer, I am well aware of the relationship between a painless mass (an enlarged lymph node) in the armpit and breast cancer. I did a self-exam on my right breast (same side as the underarm mass) and I found two masses in my breast. My heart sank.

I called the Vanderbilt Breast Center in Nashville and made an appointment. The time period between finding the mass and my appointment dragged on. In my head, I knew already that it was cancer.

I tried convincing myself that it was probably nothing, but I knew it was cancer.

Morgan went with me to my appointment — I am so grateful for him. He has always been by my side, and I couldn’t have done any of this without him. The nurse practitioner who I met with was kind and friendly and tried to cheer me up.

“It’s probably nothing,” I was told.

I didn’t have a direct family history (mother, sister, or aunt) of breast cancer, I was only 36, and I didn’t have any other risk factors. I tried to find reassurance in these facts.

I had a mammogram and an ultrasound that day. After imaging, I met with the radiologist, who I knew already from work. She immediately ordered a biopsy of the two breast masses and the axillary lymph node.

That day, the medical team told Morgan and me to hope for the best but to be prepared for a malignant diagnosis. Just 5 days later, I underwent biopsies.

I have been in the medical field for half my life working with patients, plus I’m hardly ever sick. It felt strange being the one on the table getting a biopsy.

A diagnosis

On December 24, 2020, I received the phone call that changed our lives.

The biopsy had come back positive. I had breast cancer that involved my lymph node.

The doctors weren’t exactly sure what type or stage it was yet, but they could tell it was aggressive and growing fast. I was told it was likely either Stage 2 or Stage 3. I will never forget that feeling. I cried all through Christmas.

I thought this would be the last Christmas I would be able to spend with Morgan and our two boys, who were only 10 and 5. I felt hopeless.

My official biopsy report came back 4 days later and it was confirmed that I had triple-negative breast cancer. My heart sunk even more.

Triple-negative breast cancer

Triple-negative breast cancer (TNBC) is a rare form of breast cancer that tests negative for estrogen receptors, progesterone receptors, and excess HER2 protein. Only about 10–15 percent of breast cancers are triple-negative.

I was so upset to hear this news. Not only did I have breast cancer, I also had one of the “worst kinds.”

TNBC does not have a good reputation. It’s very aggressive and doesn’t have as high of a survival rate when compared to other types of breast cancers.

My doctor at the Vanderbilt Breast Center referred me to meet with a genetic counselor, who ordered genetic testing. They were highly concerned that I had a BRCA1 mutation. There are two types of BRCA genes, BRCA1 and BRCA2. Everyone has two copies of these genes.

BRCA genes are also referred to as tumor suppressor genes. In some cases, variants (or mutations) can make developing certain types of cancer more likely. Both the BRCA1 and BRCA2 mutations are inherited. Both men and women can inherit the BRCA mutations.

BRCA1 and understanding “high risk”

According to one study, women who have the BRCA1 gene mutation have a 72 percent lifetime risk of developing breast cancer and up to a 44 percent lifetime risk of developing ovarian cancer. It is estimated that as many as 1 in 300 people carry the BRCA1 or BRCA2 mutation.

For women of Ashkenazi Jewish descent, this number jumps to 1 in 40 people, according to the Centers for Disease Control and Prevention (CDC).

After my breast cancer diagnosis, I started researching my family tree. I am not Jewish by religion, but I did know that my mother is 100% of Jewish descent. After some research, I learned that we are, genetically, Ashkenazi Jews.

Because of this, I was less surprised when my genetic testing came back positive: I did inherit the BRCA1 mutation.

The CDC suggests that if you’re of Ashkenazi Jewish descent, and have either a first-degree relative (biological sister, mother, or daughter) or two second-degree relatives on the same side of the family (biological aunt, grandmother, or niece) who have been diagnosed with breast cancer or ovarian cancer, you should consider getting genetic testing.

My grandmother was the only person in my family who had had breast cancer. According to the CDC, even though I was of Ashkenazi Jewish descent, I was not considered “high risk.”

My treatment journey

On December 31, 2020, I finally received a piece of positive news. According to my MRI and CT scans, the cancer had not spread beyond the single lymph node that we had already identified. I was officially diagnosed with Stage 2 triple-negative breast cancer with a BRCA1 mutation.

My oncologist was great, she gave me hope but stayed realistic. She told me that this was going to be hard, but I could beat it. From this point on, everything moved fast.

This was an aggressive cancer but I was ready to fight.

First, I underwent surgery to place my port and started chemotherapy just a few days later. In total, I had 16 rounds of chemo over 20 weeks. I lost all my hair (eyebrows and eyelashes included). I was nauseous, fatigued, and weak.

But I was also strong. I had great support from my family and friends, and I remained determined.

My chemo treatments lasted from January 2021 until June 2021. Finally ringing the bell after my final round of chemo was one of the best feelings I have experienced.

After recovering from the intense chemo, I underwent a double mastectomy. Double mastectomies are often highly recommended for women who are BRCA1 positive. In the process, my surgical team removed a few lymph nodes as well to test for metastasis. The pathology report came back that I had a pathological complete response (pCR).

Essentially, this meant that the chemo had been successful and all the cancerous cells were gone. I was cancer-free.

Still, my treatment was not over. Since my cancer had spread to a lymph node, I went on to have 25 rounds of radiation over 5 weeks.

My final treatments were a hysterectomy and oophorectomy. This treatment was proactive; I wanted to remove my ovaries to reduce my risk of later developing ovarian cancer.

After treatment

After I tested positive for BRCA1, my mom was tested as well. She also tested positive. She had just never developed breast cancer.

At the end of 2021, she had surgery to remove her ovaries. Unfortunately, while she was having preventive ovarian cancer surgery, her doctors found ovarian cancer. She is currently undergoing chemo.

I have two sons that I pray I did not pass on the BRCA1 mutation gene to. When they turn 18 they will be able to make the decision to get tested themselves. My sons each have a 50 percent chance of testing positive and having to face this nightmare again.

I learned so much this year about family history, breast cancer, and BRCA1. I’ve started to talk about my experience in the hopes of spreading awareness about the early signs of breast cancer and the importance of understanding risk.

A simple lump under your arm or in your breast should not be ignored. I encourage you to talk with your doctors about BRCA testing, especially if you are of Jewish descent. I don’t want someone to have to go through what I did just because you’re not considered at a “high risk.”