Genetic Screening for Breast Cancer: Why I Did It Twice

It was 1993, and there were fewer treatment options than there are now, but her death, along with my grandmother and maternal aunt’s postmenopausal diagnoses, means that I’m at an especially high risk of developing breast cancer. It’s a fact that keeps me up at night. And it’s the reason I have gone through the stressful and agonizing process of being genetically tested. Twice.

Your Family Medical History Affects Your Risk

Genetics are strange. At first glance, my risk of breast cancer seems wildly high. But when you factor in that the women in my family had different types of cancer (pre- versus postmenopausal), that all three lived in the same cluster area at the same time growing up (could it have been an environmental trigger?), and that both my aunt and grandmother had diagnoses at an older age, my risk falls into an area that my doctor calls “gray.”

I’m at higher risk, but not necessarily “high.” In other words, the kind of cancer in my family is the kind that science is still studying.

What are BRCA Genes?

The name “BRCA” is an abbreviation for “BReast CAncer gene”; I was in my 20s when I first heard about them. BRCA1 and BRCA2 are two different genes every human has, but for both women and men with a family history, there are certain mutations that can raise the lifetime risk of developing certain cancers.

According to the National Cancer Institute, by having these BRCA mutations, you may be at an increased risk for the following types of cancer:

• Breast and ovarian cancer in women
• Breast and prostate cancer in men
• Pancreatic cancer (though the risk increase is low) in both women and men

There is also inconsistent data that these gene mutations may be linked to skin cancer, colon cancer, and stomach cancer.

Thankfully, there is a genetic test that can determine if you have the mutation. It was the first test of its kind and became available in 1996.

My mother died before these genetic tests were available, so it’s impossible to know if she had these mutations. My grandmother didn’t want to be tested (I suspect she didn’t want to know if she passed it to her daughters), which left me and my sister. I was tested in 2008. She was tested in 2020. We had the same results. Negative.

Life Decisions Based on Lowering Risk

I was surprised to hear my doctor describe my risk of cancer as lower than I’d imagined. Before getting my test result, I’d made many big life decisions because I’d assumed my risk was high.

Decisions like when I became a mother. I had my first two babies before I turned 30 because a study showed it might be a lower risk than having them later in life. And I nursed all three of my babies for more than a year each.

My assumption affected what I put on and into my body. I cut out chemical deodorants and hair dye (I use henna)—despite the dodgy “science” behind each claim. My diet still consists of as many leafy greens and turmeric products as I can get my hands on, and I very rarely drink alcohol. Better safe than sorry, even though studies haven’t concluded these tactics work.

My First Time Getting Gene-Tested for Breast Cancer

The first time I was tested for the BRCA mutations, it was a new procedure, something few people had done. I felt a little in the dark. I had read one book about a woman who had taken it, tested positive, and had a prophylactic mastectomy, which can reduce risk. I had one friend who had done it and was involved in advocacy for “previvors,” but no one else I knew was assessing their future risk.

I didn’t sleep during the nights before the test. What if it was positive? What would I do?

“On the bright side,” I told my husband. “If I have to get a mastectomy, I will get new and better boobs for free.”

In the end, it was a simple blood test. All that drama for a prick and a one-minute draw.

Two weeks later, in a small, sunny office, my doctor gave me the news: I was BRCA-negative. That should have been good. People congratulated me when I told them.

I was happy, but “negative” left me in a weird place. I was told I was still officially at “higher” risk, but it wasn’t clear why. The fact that there had been limited testing performed in my family made it more complicated. Maybe there was a gene somewhere inside me I couldn’t be tested for because it hadn’t been uncovered, my doctor told me.

That’s science for you. Just when it’s working in your favor, it isn’t.

The Downside of Being BRCA-Negative

Being “negative” didn’t get me out of the higher-risk protocol—more frequent examinations, mammograms starting at 35 instead of 40—but I wasn’t at a high enough risk to do anything drastic. Drastic felt safer.

My friend C, who also lost her mother young to ovarian cancer, had tested positive. She chose to have an oophorectomy (ovary removal), hysterectomy (uterus removal), and mastectomy (breast removal). These procedures were debilitating and painful, and the recovery was long and much harder than she’d anticipated. But at least she could do something to reduce her risk of breast cancer, and something felt better than nothing to me at the time.

So, I started my mammograms earlier. In the ensuing years, I went every six months for an ultrasound. I self-examined in the shower. I went to doctors for every suspicious mole or weird period-related pain. My doctors got it. They supported me.

Science Has Identified New Genes to Screen For

In 2019, we moved to England. My new doctor was looking over my files and said that there was a lot of new information since my last gene test. In 10 years, they’d discovered 15 more genes they could screen for.

At that time, it was known that having a mutation in the BRCA1 gene led to a 72 percent risk of being diagnosed with breast cancer by age 80. Meanwhile, the PALB2 and CHEK2 genes were not as well known the first time I was tested.

But a 2018 study found that four non-BRCA genes, including PALB2 and CHECK2, as well as ATM and MSH6, also increase the risk of breast cancer from two to more than five times higher than the average rate.

Why I Got a Second Gene Test

Getting retested was something new I could do. So I did. Also negative. I felt better the second time. Because with every new year, there may be new information emerging, and maybe, in another 10 years, I could have some answers.

Science is amazing. And ever changing. There is never a point at which I get to say, “I am done worrying or testing.” With every new piece of information, I am allowed a small glimpse into the world of genetic risk factors and what might be in store for me as I age. I feel I owe it to my three children to keep investigating.

The truth is, my mother’s early death left me with a terrifying impression of what breast cancer can do at its worst. I watched her body wither away to skin and bones, her mouth erupt in sores from the chemotherapy. I watched her spend days in bed, too nauseous to emerge.

I wouldn’t wish this experience on anyone, and I will do everything I can to avoid that fate for myself and others. I will spread the word to other people with risk assessments like my own.

Get tested. Be vigilant. Read up on the latest studies and understand all the risk factors. Advocate for yourself.

I lost my mother as a young adolescent to something that, today, may have been caught earlier, treated more aggressively, or even caught as a gene instead of a growth, with an easy swab of the cheek or a simple blood test. I won’t forget that.

And I won’t let my children forget it. Because they, too, love Muenster cheese and have long, thick hair and high cheekbones, and a quarter of my mother’s genetic makeup in their DNA.

The good news is that every day we have the tools to do better, to know more. So, we do. And we will.

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