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I got tested for the BRCA2 gene mutation after my mom was diagnosed with breast cancer. A simple test gave me peace of mind.

Nov 8, 2023, 18:43 IST
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The author and her mom.Melissa Wells/Insider
  • After a breast-cancer diagnosis and a separate scare, my mom tested for the BRCA2 gene mutation.
  • Knowing it could be hereditary, I decided to get tested at 23 to see if I also carried the mutation.
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I was 18 when my mom was diagnosed with breast cancer. It altered the trajectory of my second year at college and changed how I viewed my mom, whom I naively thought was exempt from harm.

She knew breast cancer had affected other women in her family, so she made sure to get preventive care. It was her consistent mammograms and checkups that caught it early enough for her to have surgery to remove the tumor before it spread.

But less than five years later, she had another scare. Doctors found another mass in a routine checkup, and it seemed like déjà vu. There's a 7% to 11% chance of breast-cancer recurrence within five years after a first diagnosis, but thankfully, the mass was benign.

Still, I became concerned about what her health meant for my own: Would my doctor recommend I go through the same frequent screenings, just in case? Was my own risk of breast cancer high considering my family history? Were there preventive measures I needed to take?

My mom's doctor recommended she get tested for the BRCA1 and BRCA2 gene mutations

Everyone has BRCA1 and BRCA2 genes. They function as tumor suppressors that are vital to our body's ability to fight cancer. However, a mutation of those genes can be hereditary and cause an increased risk of breast and ovarian cancer.

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My mom's positive test for the BRCA2 gene mutation was as crushing as it was relieving. It was crushing because it provided evidence that the mutation ran in the family and that I had an increased risk as well, but it was relieving for my mom to have more information to allow her to advocate for her own health and take charge of the next steps to protect her future.

Her choice has been to take preventive measures, much like Angelina Jolie did. My mom had a full hysterectomy last year out of precaution against ovarian cancer, and she plans to have a prophylactic double mastectomy next to eliminate the risk of breast-cancer recurrence. I can easily say she is the bravest person I know.

I decided to get tested for the BRCA2 gene mutation at 23

But then the doctors turned to me, my sister, and my cousins. We could get tested, they said, and the results could provide us information about our health.

According to the Centers for Disease Control and Prevention, an estimated one in every 500 women in the US has a BRCA1 or BRCA2 mutation. As my mom carried a mutation, I had a 50% chance of having the same one.

For me, the answer as to whether to get tested was immediate. I wanted as much information as I could get. My cousins, who are about my age, chose not to get tested, instead finding solace in the unknown. I respect that choice, too.

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The test was so easy I could do it at home, and my insurance covered the cost. My team of doctors, including a geneticist and my primary doctor, sent me the instructions. I simply took a cheek swab and saliva test. Others choose to do a blood test.

It felt odd that it was that easy — that all the buildup of emotions had culminated in a little saliva and a cotton swab. But sending it off provided so much relief.

Knowing the odds, I'm lucky my results came back negative

Because the chances were 50-50 and two others in my immediate family tested positive, it was a surprise when my results came back negative for the BRCA1 and BRCA2 mutations.

Testing negative doesn't mean my risk of developing breast or ovarian cancer is slim to none — that's a myth — but it does mean that my perception of my health has changed for the better. Ultimately, having negative BRCA-mutation test results decreases the overall risk, but it doesn't negate the fact that I do have an increased risk for breast cancer because of my family history. That said, having all that information makes me feel more equipped while continuing to be proactive with my health.

When recommended by my doctors, which may be sooner than most based on my unique risk factors, I will get annual mammograms. I will still look for any signs of lumps or other abnormalities. I will also stay on top of ovarian-cancer screenings each year.

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I also plan to do as my mom has: I will be my own advocate and take everything in stride.

For me, the hardest part was not knowing. But I got through that part, and now I can be proactive with whatever comes my way.

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