The Power of Genetics

I am 35 years YOUNG, not OLD! What am I doing with cancer in my boob?! I have always known that I have a strong family history of female cancers on my mom’s side. My mom has been getting close surveillance and has been fine. She has a female cousin who is a few years older than me and she has been fine too. No other females in that generation. I’m the only female on my mom’s side in my generation. Somehow, I am unlucky and got breast cancer at an earlier age than anyone else in my family. I can’t help but to think that genetics is playing a role.

My parents have been telling me that I should get genetic testing for many years. There are genes that can be tested through blood work to see if one is susceptible to cancers. Most people have heard of the BRCA gene mutations because of Angelina Jolie. Now, there are other genes out there that they can test for that are linked to cancers. I have never been tested. I thought about it in the past but I really didn’t want to know. I didn’t want to know if I was going to get cancer and die young. I just wanted to live my life without worrying and wondering when it was going to happen. I had been putting it off because frankly, I was scared to find out, but now with my diagnosis I decided to get tested. 

I decided to get tested because the results will affect my treatment plan. At the end of chemo, because I only had a lumpectomy and not a mastectomy, I would have to get local radiation to my breasts. If my genetics show that I have some gene that increases my risk of recurrent breast cancer, I will choose to get a double mastectomy. It’s just not worth taking the chance.  If I have the mastectomy, I can skip the radiation (yay!).

So, I finally met with a genetic counselor last week.  We went through my pedigree and she basically told me that she would be surprised if my tests didn't show some genetic mutation.  This is what my family history looks like:

Maternal grandmother- Died of ovarian cancer at 58

Maternal great aunt- Died of breast cancer at 48

Maternal great aunt- Died of breast cancer at 38

Maternal grandfather- Diagnosed with colon and stomach cancer at 72, still alive at 91

Maternal uncle- Diagnosed with colon cancer at 64, still alive at 65

Looking at this, the prevalence of female cancers on my mom’s side is scary. Unfortunately, back then in Japan, culturally, women didn’t talk about their bodies, especially their breasts.  Both my great aunts didn’t tell anyone (including family and their doctors) about their breasts until they were in so much pain and couldn’t hide it. By then it was too late and the disease progressed quickly. I am so lucky I live in a time where we are educated about surveillance and I have access to treatment options. I am also lucky I live in a time where I can get genetic tests to help plan my future.

I will be tested for the BRCA 1 and 2 gene mutations. This has been around for a while but in the last decade or so there has been progress in genetics and now they can test me for 31 more additional genetic mutations that has shown links to high rates of cancer. The problems with these new genes are that they have mostly been studied in Caucasian patients and so it is not uncommon to get indeterminant results in non-Caucasian patients. This could mean that the findings are just a normal variant, or that it could still be linked to cancer but not with certainty. A part of me almost hopes that I will be definitively positive for one of the genes, because it will make my decisions easy. If I am positive for BRCA or any of the other genes, I will definitely go through with the double mastectomy and will get my ovaries removed prophylactically in a few years after I finish having kids to prevent ovarian cancer. 

The decision will be hazy if I am indeterminant or negative for all the genes. Just because I’m negative for these genes doesn’t mean I don’t have some genetic problem… it just means science hasn’t caught up to finding it yet. So if I’m indeterminant or negative, do I take a chance that this cancer was just a fluke/spontaneuous, or do I go all the way and do the prophylactic surgeries just in case? I guess I’ll wait until my results come back before I drown myself in this.

The genetic results also has implications for the next generation. Before I started chemo, Dan and I harvested embryos because the chemo meds can cause infertility (more on this later). The harvesting process was long and painful, but the one good thing that came out of all this is that I can chose to have a girl! We have 4 embryos frozen, 2 boys and 2 girls! I have always wanted a little girl so this was exciting for me… but now that there is a possibility that my cancer could be genetic, I have hesitations about having a girl. If I am positive for one of the genes, I don’t know if I can go through with having a girl who I might pass my gene onto. It just wouldn’t seem right to bring a child into this world who could have even the slightest chance of getting cancer at such a young age… One good news is that per my genetic counselor, there is a way to test for the BRCA gene in the frozen embryos if I turn out to be positive. I still have yet to find out more about this from my fertility gynecologist. But what if I’m positive for one of the other 31 genes that cannot be tested in my embryos, or what if I’m indeterminant? It would just be easier to have a boy but do I really want to give up my dreams of having a girl? And who is to say that these genes might not cause cancer in boys too? The BRCA gene mutation is not known to cause cancer in males, so that’s good to know, but what about the other genes? Right now, there are so many questions and I don’t know what I’m going to do yet. First step is to wait for the results and I’ll go from there. All I can say now is that science is amazing but still has limitations. We have so much more knowledge now than when my grandmother and great aunts were going through this… but with knowledge comes more questions and great responsibility... and I'm not sure I'm ready for all of it.