Breast Cancer 101: BRCA Gene Mutation


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:, March 20, 2012 and Penn Medicine May 9, 2012 and May 10, 2012.


  1. Heavy stuff here today! I totally understand being too scared to do the test. That’s the category that I would fit under. I would be afraid of the results. I would like to talk to a counselor before doing it. Thank you for citing the work too. Please let us know how the tests turn out.

  2. Sorry to hear of your diagnosis, but glad to hear you are BRCA negative. Glad you are sharing your journey, you are a wealth of knowledge and are helping so many others.

  3. Wow, I can imagine how scary it would be waiting for the results. How much does genetic testing generally run?

  4. Thank you so much for sharing this. I find it fascinating because I’m so ignorant to the topic and you make it so much easier to understand.

  5. I think this will be valuable for women who are going through this. I can’t imagine how hard it is to write about this….Wishing you the best….

  6. Some things to keep in mind…

    1. there is a enough of a false negative/positive rate to not put all our faith in the results. If you are lucky enough to have money, you might be able to get re-tested but someone with regular insurance probably can’t.
    2. Once your family member is tested positive, they will ONLY test you for the specific gene sequence that is defective in your family member, not ALL possible mutations and not both the BRCA1 and 2 genes (I know this from first hand experience after asking and being refused)
    3. If it turns out you are negative for the BRCA gene (even though the testing could be wrong) you will no longer qualify for yearly mammograms and other testing if you are younger than the “recommended” age!! If you opt out of the testing, you will still be considered high risk and qualify for the testing.

    Some important things to consider BEFORE you test.

  7. A age 41 May 2013 I was diagnosed breast cancer (emergency room after collapsing it’s stage 4). The genetic test is average $4,000 but there are non-profits and grants that may absorb the cost. 2009 a bill was passed that the genetic test can’t be used to deny insurance. I say do it – no excuse! Confirm your level of risk supporting the criteria for early detection.

    Though family history the type genetic identity will determine aggressiveness – will force a better evaluation by a doctor. “I went three times seeking medical help they were isolated symptoms for breast cancer a year prior the general doctor missed it in March 2012. As many early symptoms can be just as misdiagnosis some other minor medical conditions. Just do the test it may help you push for more aggressive screening as caught earlier means a higher survival rate and less evasive treatment plus high costs to survive. I did mine for my baby sister as she can take my identified code test specific for it only $400 at her age 26 she will have more options then me as mother refused testing 12 years ago with her cancer.

    You do it for yourself and your love ones. The doctors that diagnosed cancer poured over my past medical info for the aggression level they determined I was missed March 2013 stage 1 at 98%-93% survival and lower return. Stage 4 my status is beyond the breast the cancer has spread other organs survival rate 18%-28% with a higher return rate 58% under 7 years. So, if your pondering maybe not fear knowing. Best advice knowing gives you more insight options and your doctor more insight for better quality of life.

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    I’ve loaded your blog in 3 completely different browsers and I must say
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  1. […] the past two weeks, I’ve schooled you on knowing your risks for developing breast cancer and understanding the BRCA gene mutation.  This week we’re talking about surgery and knowing the difference between a lumpectomy and […]

  2. […] wrote extensively about the BRCA gene mutation last year.  Read more to understand how we all have these BRCA genes but not all of us carry the […]

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