What is BRCA?

The term "BRCA" is an abbreviation for "Breast Cancer Gene".  Everyone has these genes and despite what the name suggests, the genes do not cause cancer.  In fact, these genes normally play in an important role in the human body to prevent breast cancer.  However, in some people these genes do not function properly.  When a gene does not function as it should (it is broken or altered) it is considered a genetic mutation.  

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What is a BRCA mutation?

When a BRCA gene is mutated, it may no longer be effective at repairing DNA to prevent breast cancer.  According to the National Breast Cancer Organization, about .25% of the population carry mutated BRCA gene. BRCA1 and BRCA2 gene mutations are two different variations that have been found to significantly impact a persons risk of breast and ovarian cancer.  The carrier of the genetic mutation also has a 50% chance of passing it on to their children.  

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What are the BRCA Mutation Risks?

If you are a BRCA carrier, it is important to talk with a genetics counselor about your specific risks.  While just being a carrier raises your risk significantly, factoring in your family history is also important.  In my case, I inherited the BRCA1 gene from my father.  For as far back as we can trace, every women on his side who had BRCA had breast or ovarian cancer, many dying from Ovarian cancer in their late 30's/early 40's.

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How do I know if I should get tested?

The general population does not get tested for BRCA genetic mutations.  You could be a candidate for testing if:

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• You have a personal history of cancer diagnosed before the age of 45

• A personal history of breast cancer and Ashkenazi (Eastern European) Jewish ancestry

• A history of breast cancer at a young age in two or more blood relatives, such as your parents, siblings or children

• A relative with a known BRCA1 or BRCA2 mutation

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(You can see a more comprehensive list: https://www.mayoclinic.org/tests-procedures/brca-gene-test/about/pac-20384815)​

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My aunt, my dad's sister, tested positive for a BRCA1 mutation.  She had breast cancer twice.  My dad got tested next and also tested positive.  That is what lead to my decision and unfortunately, I too tested positive.

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Is there a treatment for a BRCA genetic mutation?

Unfortunately, there is no treatment right now for carrying a BRCA gene mutation.  However, you can be closely screened for many years (this is what I did for the past 7 years) with hopes to catch cancer early.  There are good screening for breast cancer such as breast MRI's and Mammograms.  Ovarian cancer, aka the silent cancer, doesn't have has great screening tools for the time being.  Present day, the only real option to significantly lower your risk if you are a carrier, is preventative surgeries.  BRCA mutations are the most well known and researched mutation, so there is tons of research going on as we speak.  I am hopeful that by the time my daughter gets tested science will have advanced even more than it already has and there will be other options!1aq