A Familiar Gene: what the BRCA gene mutation means and how it affects my future

I know about my family history. I saw my mom go through breast cancer and heard stories that my great-grandmother on my grandfather's side died fairly young from breast cancer.

Genetics is complicated.

What is the BRCA gene?

According to the National Insitute of Cancer, BRCA 1 and BRCA2 produce tumor suppressor proteins that help repair damaged DNA. When either gene is mutated or begins to not function properly, it can alter genetics in a way that leads to cancer. People who have BRCA mutations tend to develop breast and ovarian cancers younger than those without the mutation.

My mom, who is BRCA1 positive, developed her breast cancer just shy of her 33rd birthday.

I had a 50 percent chance of inheriting this gene from my mother. Looks-wise, I am spitting image of my dad but, I can thank my mom for my metabolism and the BRCA1 mutation.

I know that she was upset to pass this gene down to one of her children. However, I have come to accept that if God had to give me breast cancer then I'm thankful to have been diagnosed in 2018. Treatment for breast cancer has advanced so much ten years after my mom completed treatment.

Meeting a genetics counselor.

Originally, my doctor's suggested that my sister and I wait until we turned 18-years-old to be tested. Then, the suggestion was pushed to 22-23 years, ten years before my mom was diagnosed.

I was scared to take my test. I made a promise to myself when I was 17-years-old that I would begin living my life with no regrets. I know that sounds cliche. But, I think part of me knew that I carried the gene. I didn't want to consume myself with what could happen, I wanted to enjoy the now -- be in the moment. As a defense mechanism, I didn't make any real plans for the big moments in my future after graduation because I would be turning twenty-two. I wanted to start preparing myself for the just-in-case.

Little did I know what was in store for me the year I graduated.

I was twenty-one, one year prior to my test year when I found my lump during an unintentional self-check. After being formally told that I had Stage I, triple-negative breast cancer. The first thing I had to do before the start of treatment and surgeries was meet with a genetics counselor.

Before meeting with a counselor, I suggest that you know your family history or bring someone who does. 

In the meeting, they make a chart of your family tree. She asked about the various health issues family members had, how old they are or were when they died. The chart is then marked with circles, squares, and other funky designs that signify gender and specific cancers.

Once that is completed, she reviewed what the BRCA genetic mutations meant -- my chances of developing breast and/or ovarian cancer and the preventative measures that come with each. A blood test is then taken and shipped off to a lab. Since my mom had taken her test years prior, the lab was able to check the specific gene and number which allowed me to get the results back faster.

Future?

A lot of monitoring and uncertainty, that's for sure! Because I am BRCA1 positive, I have a higher chance of developing breast cancer, for my cancer to return, and the chance of developing a second cancer. My risk of ovarian cancer isn't as high as those with the BRCA2 mutation, but it is still high enough to take preventative steps.

I am a high-risk patient due to my positive mutation. Because I am so young and had dense breast, a normal mammogram had the chance of producing results would be too ambiguous. So, my options are to get an MRI, ultrasound, and a 3D mammogram twice a year until I get my double mastectomy. For ovarian cancer, since there is no way of testing for ovarian cancer until it's too late, I have to be monitored through pelvic ultrasounds and a blood test twice a year.

Preventative Surgeries:

Removal of breast tissue (bilateral prophylactic mastectomy) -- yes, like the one that Angelina Jolie had. This is the exact procedure I had in June plus reconstruction surgery. I didn't have a choice of whether or not I wanted to get a double mastectomy. I had to get one in order to get rid of my existing tumor and to decrease my risk of my cancer coming back. Like everything, there are still risks such as the fact that a mastectomy does not remove all breast tissue. There could be a minuscule amount of tissue left that could eventually develop into cancer. Regardless, I have to be hyper-sensitive and continue self-checking my breast every month. 

Removal of ovaries and fallopian tubes (bilateral prophylactic salpingo-oophorectomy) -- this surgery is harder for me to grasp as I am not entirely sure of what my future holds. The thought of having kids now is crazy as I can barely take care of myself. But its something that I have to start thinking about soon. This surgery is recommended after you've had children or after the age of thirty. But, if you haven't realized it yet, i'm kind of a special case. There isn't much research on if the chances of me developing ovarian cancer before thirty since my gene was triggered at a young age. For me, it is recommended that I get them out sooner rather than later. 


If your family has a history of breast and ovarian cancer, I recommended that you educate yourself and get tested for the BRCA mutations.

I promise it's always better to be safe than sorry.