She Blinded Me with Science

When I arrived at my appointment I really had no idea what to expect so of course I was feeling a bit anxious.  The genetic counsellor that I met was so nice and really put me at ease.  She reviewed my personal and family history that I had previously submitted and noted that it was suggestive of a hereditary type of cancer.  She explained to me about hereditary cancer and genetic testing.

What I learned is that there are genes called BRCA1 and BRCA2 (breast cancer 1 and 2) that are part of a class of genes that are considered tumor suppressors.  These genes help to prevent uncontrolled cell growth.  Sometimes these genes could have a mutation and these mutations have been linked to the development of hereditary breast and ovarian cancer.  They are identified as being the cause of a proportion of the inherited cases of cancer.  The inherited gene only accounts for 5-10% of all breast and ovarian cancer.  So, contrary to popular belief, the majority of cancer cases are not hereditary.

Once all of this was explained to me I had to make a decision whether I would go ahead with the testing or not.  I chose to do it.  For my part, all that was involved was the lab taking several vials of blood.  The blood samples would then be sent for testing to the molecular diagnostic laboratory.  The counsellor explained to me that the folks in the lab would be looking for a mutated BRCA1 or BRCA 2 gene.  To make it easier, she said it was kind of like looking for a typo in a rather large book.  This was a lot of tedious work and the results would not be available for about three months.  All I could think about was some poor dude in a lab coat looking at my blood under his microscope.  For three months.  Yikes.
So this appointment turned out to be a crash course in molecular genetics with talk of genes, chromosomes and cells.  I had flashbacks to biology in high school.   My brain was trying to take in all of the information and I was feeling a bit like a total idiot.  I asked questions though and surprisingly I retained some of what was explained to me.  The genetic testing has three possible results including 1) mutation detected; 2) no mutation detected; and 3) an uncertain variant.  That last one is that a gene mutation is identified but that it has not yet been described and additional studies would be required.
In September I went back to the genetics department to find out the results of the testing.  I found out that I did NOT have a mutation in my BRCA 1 or BRCA2 genes.  Great news!  Okay on one had it was great news because I did not have to worry about being the one to pass this on to my children.  However, it would have explained the “why me?” question somewhat.  Top priority is my kids so I could not have asked for a better result.

My Sisters-In-Law - Easter 2015

I was told that there is still a possibility that I could carry a mutation in these genes that the current testing is not able to identify.  Or I could carry a mutation in another gene that is yet undiscovered but that has a role in the development of cancer.  Also I was told that the breast cancer I had could be simply random and not genetically related (no pun intended) at all.  Some cancers are familial rather than hereditary.  This means that perhaps an entire family could develop cancer simply by virtue of their place of residence and proximity to one another.  Maybe there was something in the soil where their home was built that caused it.  Who knows?  Most cancer is caused by a combination of factors which could be environmental or any number of other influences that we are exposed to in our lifetimes.  I was warned that there is still an increased risk of breast cancer for Tasza and that screening will always be important including monthly self-exams, clinical breast exams and mammograms.  These should start at 10 years before the earliest diagnosis in the family but not usually before 30 is the recommendation.  Obviously as time goes on and technology advances, this will be adapted.
Just before the session was over I was asked about participating in a research study.  My reaction was of course!  Why not?  Anything to help future generations and anything to work towards a world with no breast cancer.  No cancer at all.  After all, I had this for a reason and if that reason is to help others then for sure sign me up!  I left the appointment with a spring in my step and a smile on my face.
She Blinded Me With Science - Thomas Dolby