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|
She Blinded Me With Science - Thomas Dolby