So what's this BRCA thing?

Beware, this post also has nothing to do with running or marathons (still healing)!

I mentioned in a previous post that I was a carrier of a BRCA2 genetic mutation. So what does that really mean? I have been researching and hearing about the BRCA (pronounced BRACK-ah) genes for about 4 years, but I forget that not everyone knows what I'm talking about. And since I need filler until I actually start training, now is a good time to talk about my genes. BRCA stands for breast cancer susceptibility gene 1 or 2.

**Disclaimer** I am not a genetics expert! I know and have researched enough to make my own decisions, but that's where my knowledge ends. There are lots of experts on these matters. The following is my own words, but it's based on fact and research.

Thanks to Wikipedia, here is a nice gene illustration

Everyone has these BRCA genes, and they are good. Remember genes? If you remember your high school biology class, you inherit half from your mother and half from your father. Each child of a BRCA gene mutation carrier has a 50% chance of also inheriting that mutation. The BRCA genes act as tumor suppressors, and mutations to these genes mean you are at a higher risk of developing disease. There are a range of mutations, and the most serious is a "deleterious mutation." These aren't cool X-Men mutations though (sorry Tim), because if you have a deleterious mutation to the BRCA1 or BRCA2 gene, one of your copies isn't working correctly and half of your tumor suppression army is defective.

As a result, if you are a carrier of a BRCA genetic mutation, your risk of developing both breast and ovarian cancer is much larger than the general population. There are many other risk factors aside from this BRCA genetic mutation that can make a woman high risk, including age, family history, hormonal influence, obesity, etc, but this is a pretty big one. The good news (for other people) is that only 5-10% of breast cancers are hereditary, but if you do have a hereditary risk, your chances are very high. See this graph, it's pretty staggering:

Relative risks for BRCA mutation carriers. 

How did I find out I had this mutation? My sister Megan was diagnosed with Stage IIb breast cancer in April 2008. We had a strong family history (grandmother, grandmother's mother, aunt, aunt's cousin, all on the paternal side), but she was by far the youngest diagnosis. I'm not sure the test was even around when my aunt was diagnosed. So she was tested and was positive for a deleterious mutation of the BRCA2 gene. Subsequently, more members of my family were tested. The results are very helpful in dictating a course of action and future treatments. 

At first, I was anti-testing for myself. When I learned about the test, I was only 24. I was single, living by myself 1000 miles away from my family, and kind of didn't want to deal with a giant bomb dropping in my life. So instead I at first decided to live my life like I did have the mutation. I finally got a lady doctor and scheduled mammograms and breast MRIs every year. That got to be expensive really fast (even with insurance), because I wasn't yet at the age where mammograms were covered completely by my health plan, even though I was high risk. Finally in December 2009 I figured I would get tested, because if I didn't have the genetic mutation, I'd be just like everyone else (yay!) and if I did, well then that would justify all of these tests.  By that time I was also in a pretty serious relationship with Tim, so I didn't feel as alone facing this kind of information, whatever it may be. There may have also been a lot of gentle prodding by Megan. :)

So I met with a genetics counselor at Northwestern, and she explained to me what the test was and what my course of action would be if it were positive. There were many options at my disposal if I was a carrier of the mutation, including maintaining my increased screening, chemoprevention drugs and prophlyactic surgeries, but generally we thought it was appropriate for me to wait until I was done having children to do anything beyond increased screening. We Lally Ladies never go anywhere unprepared, and Megan and I had done a lot of research on this, so I was prepared for almost everything she told me. By then I had already decided, so she took my blood and for about a week I hoped and hoped I didn't have it and could be just like everyone else. Later learned that I do in fact have a deleterious mutation of the BRCA2 gene.  Having already committed to my increased screening regimen, not much changed afterwards. The test results just confirmed what I was already assuming, and I would continue my yearly boob squishings, probably until I was done having children (I haven't even started yet, nevermind finish!)

There are many resources available for women at high risk like myself (often referred to as "Previvors"), including the Bright Pink (the nonprofit that I will be running with in the marathon--look a marathon reference!!), FORCE (Facing Our Risk of Cancer Empowered), and forums on BreastCancer.org, to name a few. It's a funny place though, facing real risks and real life decisions, but you can't allow yourself to wallow because you aren't sick. And I never really let myself get down about this, because my sister was sick. If anything, I was lucky, because now I knew my risks and I could do something about it.

Further reading about the BRCA genes:
Wikipedia: http://en.wikipedia.org/wiki/BRCA_mutation
National Cancer Institute: http://www.cancer.gov/cancertopics/factsheet/Risk/BRCA
Megan's blog post discussing the BRCA gene: http://meganpinkblog.blogspot.com/2008/05/all-i-really-need-to-know-i-learned-in.html