My Mom, My Sister and I All Have a BRCA2 Gene Mutation

As told to Erica Rimlinger

When my sister was diagnosed with stage 2 breast cancer, she—and everyone in our family—was shocked. She was healthy, young, in her early forties, and there was no family history of breast cancer. But our initial shock would be followed by a series of after-effects that would affect the entire family.

Due to my sister’s age at diagnosis, her medical team recommended that she be tested for genetic mutations, including BRCA genetic mutations, which are associated with certain types of cancer, including breast, ovarian and prostate cancer. He tested positive for BRCA2 gene mutationwhich meant it could be passed on to other family members. Did the rest of us also carry the genetic mutation? We wanted to know?

My mother and I decided to get tested and we both had a BRCA2 gene mutation. Once again, shock swept through the family. Over the course of several years, 13 family members decided to get genetic testing. Eleven of us tested positive for the mutation, including some boys.

At the time, I was 37 years old and breastfeeding my baby. It was a particularly difficult time for me to learn that I needed earlier and more frequent mammograms because I would have to stop breastfeeding my son to get an accurate result. My husband and I were also hoping to have a second child, and learning that I was pregnant with a baby BRCA2 The genetic mutation forced us to think about issues such as passing on the gene or possible future surgery. In addition to increasing the risk of breast cancer, this mutation is associated with an increased risk of ovarian cancer, a cancer that is difficult to detect because it often does not cause any symptoms before it spreads.

Still, even though the results complicated my plans, I felt the tests gave me the knowledge to make important decisions about my health care and manage my risk before a medical emergency occurred. My sister didn’t have that luxury. She didn’t know she carried the gene until she had stage 2 breast cancer.

My mom had always had annual mammograms, but with her BRCA2 Because of the genetic mutation, her doctors recommended that she alternate between having a mammogram and an MRI every six months. Just months after my sister’s diagnosis, my mother’s medical team discovered she had stage 0 ductal carcinoma in situ (DCIS), a noninvasive or preinvasive breast cancer.

It seemed incredible. She had lived so long without knowing she had an elevated risk for cancer. And just when she found out, the cancer had already begun in its early stages. Her diagnosis helped her and her care team plan the best course of action. Her cancer treatment was followed by a salpingo-oophorectomywho removed her ovaries and fallopian tubes to prevent her from developing cancer in those areas.

As I helped my sister and mother navigate their treatments, I thought about my own health decisions. The question of whether or when my husband and I could try for a second child lingered in my mind. Mammograms are not routinely performed during pregnancy and are less accurate while breastfeeding. I knew I couldn’t go years without screening. My sister’s stage 2 cancer had appeared six months after a negative mammogram. I decided to use the information I’d gained from my genetic testing to take steps to protect my health.

I scheduled a double mastectomy for the first week of January 2019. Three days after surgery, my surgeon called me and told me I had made the right decision. The medical team had detected cancer. Like my mother’s cancer, mine was stage 0.

Knowledge of me BRCA2 The genetic mutation gave me the best possible scenario in a worst case scenario. I had the cancer removed before I knew I had it. Knowing that my BRCA This status allowed me to make important decisions about my treatment.

But I had more to consider. I was worried about putting off the ovarian surgery that had been recommended until after another possible pregnancy. What if I took too long to get pregnant? What if I passed on my genetic mutation? My doctor advised me to give myself the time and space I needed to heal, to feel what I needed to feel, and to make the decisions that felt right to me.

We were lucky and I quickly became pregnant with our second child, just after the pandemic began. Several months after his arrival, I arranged the final surgery that would remove the most urgent risk of having a child. BRCA2 Genetic mutation: salpingo-oophorectomy. The most stressful part of this consideration was knowing that I would not be able to carry my baby while recovering from surgery. I was reminded of when I was unable to carry my first child after my double mastectomy and reconstructive surgeries.

Even when I was stressed about family planning, I knew that my knowledge of BRCA2 The genetic mutation was a priceless gift. The gift of knowledge allowed my mother and me to detect our cancers early and have a personalized treatment plan designed by our health care provider. We had time and options on our side. Knowledge allowed us to take steps toward better outcomes, both before and after we were diagnosed with cancer.

We can’t choose our genes, but we can choose to listen to what they tell us. I don’t know if many people would call a family with that many genes a happy family. BRCA2 Genetic mutations are fortunate, but I think we are incredibly lucky. We are lucky to live in a time when we can understand what our genes are telling us. We are lucky to have choices about our health and our preventative care. Most of all, we are lucky to have each other to support us as we face this challenge together. BRCA2 Genetic mutations and breast cancer sent shockwaves through our lives, but facing them strengthened our bond and brought us closer together.

Visit beBRCAware.com to learn how genetic testing can provide important information about cancer risk and help you make treatment decisions after a diagnosis.

This educational resource was created with the support of AstraZeneca and beBRCAware.com.

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