DNA

The Genetics Behind the Cancer

Life is funny. Sometimes in that belly laugh way and sometimes when you look up in the sky and have to smile and say "Why God?"

As yall know by now, my mom is a two time breast cancer survivor. She is a champ! I always assumed that if I had the BRCA gene, I would have likely gotten it from her. In June 2013, a month before I went in to see Dr. Christian and two months before I was diagnosed with breast cancer, my mom had the genetic testing done to see if she was a carrier. She was not a carrier! It was so good to get this news. We all breathed a sigh of relief. My brother and I thought we were off the hook. Looking back, this was naïve of us, because both my paternal grandmother and paternal aunt had breast cancer, therefore it could have come from my dad's side just as well as my mom's side.

After it was confirmed that I was a BRCA carrier, both my dad and my brother had to go through genetic testing. Without a doubt, we knew my dad had to be a carrier. My brother had a 50/50 chance of being a carrier. My dad was indeed a carrier, my brother lucked out and is not a carrier.

Thanks dad for sharing that special trait with me! I always knew I was your favorite. I would have settled for just your eye color and complexion though...

So what exactly does having the BRCA 1 gene mean?

I had to meet with a geneticist to determine what exactly having the BRCA 1 gene meant. Luckily my maternal fetal medicine doctor made a call and asked for a favor and I was able to get an appointment with the geneticist fairly quickly. Basically I have a mutation at "5083del19, resulting in a stop codon at amino acid position 1670 of the BRCA 1 protein." I took this straight of my report, really doesn't make much sense to me. But as the geneticist explains it, everyone has a chain of letters in their DNA and as long as the letters stay in the correct order, things are good. In my case, when you get to the 1670th letter in my DNA sequence, things go haywire. The letters got jumbled in the DNA and my body just stops reading the sequence. SO in people without this mutation, the body would kill the cancer cell. In my case, the body gets mixed up and the cancer cell continues to grow without the body killing it.

So what this really means as for as numbers? People with this mutation have an 87% risk of breast cancer and a 44% risk of ovarian cancer by the age of 70. (I am just one of the lucky few that got it in my 20s) Also, there is a 20% chance of a second breast cancer within five years of the first, as well as a ten fold increase in the risk of subsequent ovarian cancer. I have always been a numbers and math person. However, I don't like these numbers. After hearing these numbers, I see why the doctors insisted that I remove both breasts.

Also, after hearing these numbers, I understand why my doctors are insisting on a full hysterectomy. While all of my doctors agree that I would need a full hysterectomy, they all have different time frames in mind. The geneticist said that I need to get my ovaries and uterus removed at the time of C-section (April 2014); it was just too risky to keep them in there. My oncologist originally said that I needed the hysterectomy before the age of 40, he has now said that I should get it done in the next three years. My OB/GYN would like to do it within two to three months of me having the baby. Right now, I am inclined to go with my oncologist's recommendation of 2-3 years. The C-section will be my third major surgery in ten months, my body is tired and worn down. I feel like I have aged ten years in the last year. I need a break. Not to mention, I will have a three year old and newborn to look after; recovering from another surgery at this point seems kind of impossible. Also, the thought of being in full blown menopause at 30 seems overwhelming to me. I am not ready to deal with that, not just yet. I hope and pray that nothing happens that will "make" me deal with it earlier than two years from now.  I will be checked every 6 months to make sure that my ovaries are okay until I decide that I am ready for the hysterectomy.

Genetic Destiny

I saw Dr. Christian a few weeks ago (March 2014) and we talked a lot about my BRCA results and my "genetic destiny." I live with the guilt that I may have passed this gene onto my kids. In fact, I have let myself become wrought with guilt about it. Basically, at the age of 18 they can decide to be tested for the BRCA mutation. It can not be done before they turn 18, even if they want to and I want them to.

Regardless of the BRCA results for my children, the standard approach is to start monitoring for the type of cancer your parent has ten years earlier than when the parent was first diagnosed. For Gabrielle, this will mean that she will have to start getting monitored for breast cancer at the age of 19. This kills me. A 19 year old should never have to worry about cancer. She should be in college, having fun, partying - not going for scans and ultrasounds every few months.

I cried to Dr. Christian about this at my last appointment. She reminded me of our "genetic destiny." She told me that while I may have passed this mutation onto her, I need to remember that I also passed her some good genetic materials as well - her big brown eyes, her curiosity about life, her love for chocolate and her spunkiness. Her dad passed her some good qualities as well. (Dr. Christian also joked and reminded me that I don't get to blame her for those qualities she inherited from her dad that I don't think are so great, I picked him as her 50% genetic donor!)

My prayer is that by the time my babies are old enough to have to confront this head on, there will be a cure for cancer, that it will not matter if they have the gene or not, cancer will no longer be anything to worry about and fear. That is my prayer, every day.