Wow! I was super pleased with the reader’s responses to my first post in the Breast Cancer 101 series. As promised, this week we’re talking about the BRCA gene mutation.
When I was in college, a classmate gave a presentation about the newly discovered “breast cancer genes.” She started her lecture talking about “Barbies, boys, babies, boobs, and breast cancer.” And then I zoned out because that’s what college students do, right? I figured I really didn’t need to pay attention because breast cancer didn’t run in my family.
When I was diagnosed nearly four years ago, the doctor guessed that I was either HER2+ and/or BRCA positive. Snap. I should have paid more attention in that stupid college science class!
Within days of my diagnosis, I talked at length with a genetic counselor about my potential of having the BRCA gene mutation, how to be tested for it, and what it meant if I had it. My blood was drawn and off it was sent to Myraid Genetics and Laboratories in Utah for analysis. About three weeks later, post-surgery and right before I started chemo, I sat in her office and waited for the results. I was BRCA negative. I did not possess either BRCA 1 or BRCA 2 gene mutation.
So what exactly is a BRCA gene mutation?
According to statistics, most inherited breast cancer cases are associated with the BRCA 1 or BRCA 2 genes. Every person – both men and women – have these two genes in their bodies. The role of these genes are to repair cellular damage and keep breast cells growing normally. When either one of these genes contain some kind of abnormality – or mutation – they simply cannot do the job they are supposed to do and your chance for developing breast cancer increases.
Understanding all this scientific mumbo-jumbo can be difficult. The best analogy I’ve read likened genetic mutations to spelling errors. See, genes are like an instruction manual for any one cell in your body. If the genes have an error then that means that the same mistake will appear in all the cells that contain the same gene. Sadly, at this time, there is no edit for these errors.
Ok, don’t freak out though. Even if you test positive for a gene mutation, it doesn’t mean you’ll eventually develop cancer. Scientists are still learning so much about the role of the BRCA genes and how other chromosomes factor in.
When should you consider getting tested for the BRCA gene mutation?
There was no question when I chose to pursue genetic testing. I needed to know for myself and for my family. But a lot of people are very fearful to have genetic testing done and I understand that. Thankfully, most major hospitals and cancer centers have genetic counselors to help guide you and weigh the pros and cons of testing.
You might consider genetic testing, if:
- You or any blood relative on either side of your family has been diagnosed with breast or ovarian cancer before the age of 50.
- One person in your family has been diagnosed with both breast and ovarian cancer.
- There is a history of other gland cancers in your family (i.e. thyroid, colon, etc.).
- Women in your family have been diagnosed with cancer in both breasts.
- You are of Ashkenazi Jewish (Eastern European) heritage.
- You are African American and have been diagnosed with breast cancer at age 35 or younger.
- A man in your family has had breast cancer.
I am currently undergoing testing again for BRCA gene mutations as well as a host of other genes scientists are currently studying. I wrote about the study I’m participating in here.
Next week, we’re going to talk about the difference between a lumpectomy and a mastectomy. Do you know the difference?
This information should not be used to substitute any professional medical advice. If you have questions or concerns about breast cancer, I urge you to visit your physician. Works cited: BreastCancer.org, March 20, 2012 and Penn Medicine May 9, 2012 and May 10, 2012.