BRCA and the Weighty Choices to Consider
Aside from a four letter word, what exactly is BRCA and what does it mean for someone who holds that deck of cards?
Well, first of all, cancer is the uncontrollable growth of cells. Normally, when cells get old and wonky, they get the self-destruct message and go away. However, when they don’t get that memo, they can grow out of control and go unchecked. That becomes a problem. A big, cancerous problem!
Here’s where BRCA comes into play. It can be a bit confusing when someone says, “I have the BRCA gene,” because what they’re ultimately meaning to say is: “I have a mutation in my BRCA gene.” Here’s the difference:
EVERYONE has the BRCA gene (shocker, but true). You see, when the BRCA gene is intact and doing its job properly, that self-destruct message reaches the old, wonky cells; and the old wonky cells go away. That is what’s supposed to happen. However, when someone has a mutation in their BRCA gene, the self-destruct message never reaches the desired recipients; and those wonky ones don’t die off, but rather become fruitful and multiply. This can be the development of a cancerous mass.
Most breast cancer diagnoses are not due to a hereditary cancer link at all. In fact, the BRCA gene mutations themselves are quite rare, affecting only 5-10% of patients. Interestingly, these rare mutations are inherited, and can be inherited from either ones maternal or paternal lineages. That chromosome with the mutation could have been in the sperm or the egg; for more explanation of how/why BRCA is not an exclusive female gene, read our GENETICS post. Understand that there are two BRCA mutations: BRCA1, which is on chromosome 17, and BRCA2, which is on chromosome 13.
Regardless, women are drawn to genetic testing for these ‘breast cancer’ genes for a variety of reasons. Some have genetic testing done after they’ve been diagnosed with cancer, especially if they’re under the age of 40. This helps determine their treatment plan as well as their risk factors. Still, other women do genetic testing without a diagnosis at all. Here are two stories to compare.
I myself was motivated to do genetic testing (mostly because I’m a biology nerd, but also) because I had a family history for colon cancer. It was plausible, given my family history that I had that gene; but I had ZERO family history for breast or ovarian cancer and had assumed that I was at average risk for the breast cancer genes. I had absolutely no reason to be concerned for them. My physician and I were equally thunderstruck at my genetic results. I was NEGATIVE for the colon cancer gene (on chromosome 5) and, surprise surprise, positive for BRCA2. Holy shit! It’s likely that my gene was passed down the paternal line and had gone undetected for generations. I was never sick, never felt a lump, didn’t have a family history of the disease, and was too young for mammograms.
I recently met a woman, Mary (not her real name), who was motivated to do genetic testing after her beloved cousin was positive for the BRCA2 mutation and had developed breast cancer and passed away at the age of 36. Mary, devastated by this loss and concerned by the potential genetic implications, did testing for herself. Her fears were realized when, at the age of 28, her results confirmed that she too had the mutation. Other relatives also got checked for the mutation; and nine out of ten of them had it.
Neither Mary nor I had cancer at the discovery of our rare mutations, and although our motivations for seeking testing and our family histories were quite different, the legacy and risks that BRCA2 sews was all too familiar. BRCA2 meant that we each had an 84% chance of developing breast cancer within our lifetime, compared to the general population’s risk of 7.3%. When you’re told that you have an 84% of getting cancer, it’s kind of freaking terrifying.
What do you do? These are the weighty decisions that BRCA demands you consider. Do you choose to increase surveillance or do you choose to move forward with a prophylactic mastectomy? The answer is a deeply personal one, and the truth of the matter is that there’s no one right way to address the odds.
That being said, my purpose in writing this is to help shine a light onto this issue so that people can better understand another’s perspective and erase any judgements and shame that may be lurking within the general population.
Mary and I (who didn’t know each other until recently) made very different choices. Both of our independent decisions were influenced by the presence of the mutation as well as our family histories. A bit of faith and good ‘ole fashioned ‘listen to your gut’ had their roles too. Here’s the take home point y’all: both choices (although different) are equally acceptable; there’s no secret formula for making this weighty decision. It’s not a clear cut, one size fits all conclusion; and that’s okay! It’s your body, your mind, and your soul. You make the best decision you can for your body…for your life…and you do the best you can.
I chose to increase surveillance, alternating every six months with mammograms and MRIs. BRCA soon stitched its legacy into my breast, and the MRI confirmed that I had three masses. I actually had cancer…breast cancer. Who would have ever thought? I soon had a bilateral mastectomy to remove the tumors (plural) and reduce the risk. I had both breasts removed because with the BRCA mutation, I’d still have an 84% chance of acquiring breast cancer in any breast tissue that remained; and I refused to do this again. In addition to being at risk for breast cancer, BRCA2 also puts you at an increased risk for ovarian cancer….the silent killer of women. BRCA2 gifts us a 27% chance of getting ovarian cancer within our lifetime. Although this may seem relatively low, it is quite significant when compared to the general population’s risk of 0.7%. Plus, in my mind, my DNA had already proved itself worthy of the genes reputation, and I didn’t want to mess around anymore. So, I chose to have a prophylactic hysterectomy to increase my odds for longevity. I was also 37 and done having children.
Mary was 29 when she chose to have a prophylactic mastectomy. This meant that, although there was no cancer yet discovered, she had the tissue removed to decrease her risk. Let’s put this into perspective. Her cousin had already died at 36; and she was 29 with an 84% chance of getting it herself. That’s pretty weighty and stressful news folks, especially when it’s your life that you’re considering. After the surgery, Mary’s risk would drop to the single digits! I asked her about what she thought about a prophylactic hysterectomy, and she said that the thought is there for later. However, Mary is young…really young; and she wants to have children first.
So, you can see that what is right for one is not necessarily right for another; and that is OKAY. It’s okay to choose differently from the person next to you. It’s okay if you make a choice that your family and friends might not completely understand. It’s hard! These decisions are HUGE; but take comfort in knowing that the information you acquired by learning about your genes is meant to empower you… one way or the other.
I’m pleased to hear that Mary had an incredible support system and didn’t have to contend with those infamous off-hand, heartless comments made by the uninformed. I’ve even heard these hurtful remarks when people talk about Angelina Jolie. “Why would you cut off a perfectly good body part?” Coarse comments like those can be common; but they’re coming from people who don’t get it. 84% dropping to single digits! Ya’ll that’s huge! For those who don’t get it, let those statistics marinate for a second, and then imagine if it was your life.
I’m not saying that prophylactic is the answer either. Remember, there is no one right answer. BRCA may put you at an increased risk, but it doesn’t mean you have cancer. So, if you chose to watch it closely every six months, that’s cool too.
I think of this in terms of what I will tell my children. They each have a 50% chance of inheriting the BRCA2 mutation and its curse from me; and God forbid they do, they’ll have an 84% chance of getting breast cancer too. What will I recommend for them? The same thing that I’m saying here! You take the statistics, you take your current life situation, you take the pros and the cons, and your faith coupled with whatever your gut tells you, and you draw up your plan… your deeply personal plan. Should my girls ever be standing at these unfortunate crossroads and be forced to make a weighty decision such as this, I will back them no matter their choices! But ya’ll, I’m not defined by my gene; and neither will they should they inherit it.
In an excerpt from a manuscript I’ve been working on about my journey, I wrote about a mini lesson learned, and it’s applicable here as well.
Walking through life with horse blinders on only dims your true understanding of things in the world. Learning to toss those blinders to the wayside opens up a whole new world of vision. This holds merit not just for me, but for all of us.
In life, things are not always what they may seem; people are not always who you have them made out to be. You don’t truly know about something or someone unless you take the time to find out for yourself. Don’t understand another’s religion? That’s cool. Ask them about it. Don’t get how they could possibly think that yadeeya is truth; ask them to tell you more. Someone acts different than you? Comes from a different culture? Has different perspectives or priorities? Hear them out. Put down your judgement, peel those blinders off, and keep an open mind. You may not necessarily agree, but the world will grow (and so will you) when you gain depth perception by escaping the shackles of those ignorant blinders.
Turns out when we bench our biases (whatever they may be) long enough to hear about something different, when we keep that open mind, we grow in our courage. My adjusted vision saw plastic surgery for what it was… what it really was. It was a life raft for me, and the life vest maintained on board was sewn with hope. Furthermore, the idea of losing both breasts instead of the tainted one alone was a HUGE adjustment. It was hard enough to say goodbye to part of me; but with that depth perception gained with keeping an open mind, I found courage to say goodbye to both. It was the best choice for me, and I have no regrets. So, for finding that next token of courage, keep an open mind and put away your “Judgey McJudgesters.”