Genetic Testing...Done!

In our strive for knowledge and understanding with my breast cancer diagnosis last year, we discovered there are basically three things they check for in the pathology results as potential factors in the cancer's growth and development.

Two of these "things" are hormone receptors.  There are two types of hormone receptors - estrogen and progesterone.   Breast cancer cells that have these receptors need estrogen and progesterone to grow. The idea is that the cancer cells would receive signals from these hormone receptors that could promote their growth.  Roughly two out of every three breast cancers test positive for hormone receptors.  I did not.  If I had tested positive, I would likely be on some hormone therapy now (medication that would either lower or block the hormone receptors to decrease future risk).

The last thing they check the pathology for is the HER2 gene.  This one is a little more complicated, but basically what happens is the HER2 gene makes HER2 proteins.  This part is good. But when the HER2 gene doesn't work properly, it creates too many proteins and this causes the breast cells to grow and divide in an uncontrolled way.  I tested negative for this one too.  Again, if I had tested positive there are medications specifically designed for HER2 positive breast cancer, which is great because HER2 positive breast cancers tend to grow quickly and spread.

So, I'm what they call a triple negative in the bus...and it's a little bit scary because we don't know what caused my cancer to grow.  

The only other avenue I could explore was genetic.  This was a bit of a long shot for me...I don't have any family history of breast cancer.  But since I was considered relatively young at the time of diagnosis (look at that...42 is young!!) and since I was a triple negative, it was something I wanted to explore.  Matt and I met with a Genetic Counsellor in March to get the scoop.  There is a test they can run to see if you have a mutation of the breast cancer gene (known as BRCA for BReast CAncer).  If you qualify within their parameters, they will test you for this mutation.  My Uncle Peter had strongly recommended to me when I was first diagnosed that I get this testing done.   It was a relatively easy decision from my perspective to get it done, but not as easy when thinking about the rest of my family.  If I was a carrier of this mutation/abnormality, than in all likelihood other members of my family would be too.  And some  people don't want to know.  For me, through this whole experience, knowledge has meant power.  But that's not the case for everyone and I understand that.  At the end of the day I had to do what was right for me and then handle the information once I had the results.

So in March I had five vials of blood drawn for the test...and on Friday Matt and I went back to see the Genetic Counsellor to get the results.  It was GREAT news!!  With 95% certainty, they can confirm that I am NOT abnormal!!  Yes, I focused on that part!  The testing showed no mutation of the BRCA gene for me!! They have several markers they check along the way, and compare to a "normal" BRCA gene and I was within the variance for each marker!  This is such great news and such a relief for me.  Part of the worry for me all along has been the risk my breast cancer creates for those I love the most!  To know that there is not a genetic disposition makes me VERY happy!!  And so happy for my fellow family members!!  I wanted to shout it from the rooftop!!

Of course, that still leaves me not knowing what caused my cancer to grow.  I have my theories about dinners I was forced to eat as a child...you know, those yucky things your parents tried to convince you are good for you...but alas, I'm sure that's not the case either.  I just drew the short straw.

C'est la vie!!  Here I am, six months after treatments are done and I am grateful for the journey of the past fourteen months. I have learned so much...and I am so very happy to be here!!

xoxoxoxoxoox