September 28, 2015
Undergoing genetic counseling and testing for a BRCA mutation
BY Mariana Torrado
Genetic testing came up during my first visit to MD Anderson. Why? Because I was only 30 when I received my breast cancer diagnosis, and several of my cousins were diagnosed with cancer in their 30s. In fact, my oncologist, Vicente Valero, M.D., also is my cousin's doctor. He recognized that breast cancer runs in our family.
Looking back, I'm thankful Dr. Valero suggested I see a genetic counselor and get genetic testing. But at the time, I didn't even know what a genetic counselor was.
I had so many questions: What is a BRCA mutation? Did this cause my cancer? Would I pass it along to my children? Would a BRCA mutation make me more likely to develop other cancers?
My first meeting with the genetic counselor
The first meeting with my genetic counselor was overwhelming. She asked about my ancestry, personal medical history and all of my family's cancer history, starting from my grandparents all the way down to my cousins.
She also asked if any family member had any genetic testing done. I told her that my sister - at her gynecologist's recommendation -- had and that she was awaiting her results.
She explained that hereditary forms of breast cancer are usually caused by mutations in the BRCA1 and BRCA2 genes, which also are associated with increased risk of ovarian cancer. If I had a genetic mutation, it was probably one of these, she said.
We discussed my genetic testing options. Because I was diagnosed with breast cancer at age 30, I met the genetic testing criteria for BRCA1 and BRCA2, as well as P53, which is associated with Li-Fraumeni syndrome.
Undergoing genetic testing
I underwent genetic testing the same day I met with the genetic counselor. I was scared and nervous, but I knew that I could make better treatment and screening decisions if I found out I had a mutation. I also could let my family know so they could decide whether to get tested.
The test itself was easy and quick -- just an extra tube of blood in one of my weekly blood draws at MD Anderson.
Three weeks later, I got my results. I had the BRCA1 mutation. By that time, I knew my sister had the BRCA1 mutation, so I expected the same result.
Discussing my results with my genetic counselor
A couple of days later, I met with my genetic counselor again.
She went over everything. She explained that I have a 50/50 chance of passing the BRCA1 mutation on to my children and that I'm more likely to be diagnosed with ovarian cancer.
If someone had handed me all of that genetic information without any guidance, I might still be trying to figure it all. I'm glad I had my MD Anderson genetic counselor to explain everything to me.
Encouraging family members to consider genetic counseling and testing
After I got my results, my sister and I still didn't know which parent we got the BRCA1 mutation from. Our mom was quickly tested, but her results came back negative.
That meant the BRCA mutation came from our dad's side. My dad has 10 siblings, and we have 26 cousins. That meant there were a lot of people to notify about our results to see if they were willing to get tested.
One of my aunts let everyone know, especially the women and anyone with daughters. Some decided to get tested. Others didn't want to know.
Empowering myself through genetic testing
Knowing that I have a BRCA1 mutation has given me the power to make decisions, get screened and be proactive.
It's also helped other family members make wise medical decisions. Since my breast cancer diagnosis a year ago, my sister, an aunt and a cousin, who also tested positive, have undergone prophylactic double mastectomies to decrease their chance of developing breast cancer. We're all also screened for ovarian cancer every six months.
However, I also understand and respect if people choose not to be tested. As my family has learned, getting the results can be life-changing.
But with the help and guidance of my genetic counselors and great doctors, I've been able to see it as a win/win situation.
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Knowing that I have the BRCA1 mutation has given me the power to make decisions, get screened and be proactive.