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06 December 2008 @ 04:50 pm

BRCA1 and BRCA2 are human genes, that are involved in the repair of chromosomal damage and belong to a class of genes known as ‘tumour suppressor’ genes. Everyone HAS the BRCA1 and BRCA2 gene.   But only very few of us carry a mutated or variant of that gene (about 1 in 800). 


Because our ‘tumour suppressors’ are compromised, the lifetime risk of developing breast cancer is estimated to be up to 87%. The risk of developing ovarian cancer is also elevated up to 44% for the BRCA1 mutation, and only 25% for the BRCA2 mutation carrier. The big problem with ovarian cancer is that is nearly undetectable… Once you start experiencing physical symptoms, the cancer can be quite progressed.


This up to 87% lifetime risk of breast cancer is incredible if you consider the average woman has a 7-12% risk of developing the disease. That being said, inherited breast cancer accounts for only 5-10% of all breast cancer cases.


So we as carriers are quite special!  :) 

I have heard people refer to the BRCA mutations as the “BReast CAncer gene”.  It makes the explanation of my situation easier to explain. For some reason I find when I tell some on my risk is 87%, they don’t blink an eye... but if I say I have the breast cancer gene which means my risk of developing cancer is up to 87%, they ‘get’ it.

up to 87% risk

What does that mean?  Here's another take on it.

Pictures this: You are told that the car you are about to drive has an 87% chance of being in a car accident.  The accident may or many-not be fatal; you many or many-not be seriously injured in the accident.

Would you drive the car? 

Now, if you were told that you could have the car serviced, it would look and work the same as before, but it would reduce the risk of having an accident by 90% or more... would you have the car serviced?

That is the choice I made.



Without a doubt a blessing.

OK, perhaps having the gene mutation is not a blessing, but the KNOWLEDGE of it, absolutely.

By looking at my immediate family, breast cancer does not appear to be a very valid threat to my health. 

All the health questionnaires ask about your ‘first degree’ relatives; sisters, mother, aunts etc. For me the closest member of my family to have breast cancer is my Paternal Grandmother. A strong woman, who loved her family with a passion, loved to laugh and fought both breast cancer as well as ovarian cancer. All in an age where cancer was a killer, not something you survived. 
My Gramma had 9 kids, 7 boys and 2 girls. My Dad is one of those kids. To my knowledge, my dad is the only one to have inherited the mutation. And now it has become my story.  I was named after my Grandmother and only hope I can do her justice, if I can borrow some of her strength by having her name… I’ll take it.


If I was not aware of my BRCA2 mutation I would live my life being blissfully unaware that there was an 87% that this monster (breast cancer) would get me. Probably at an  age that that I was not expecting it of course who ever expects to get cancer – is there an age that we should be ‘ready’ for it?

How did I find out about our family’s mutation?

Well here’s were it gets complicated. I learned of it through my Dad’s cousin. There were 4 sisters in this particular family. Three sisters developed breast cancer, they were in their 40s which is young for the ‘average’ breast cancer. (I have learned through my research that 40 is not young at all for people with our mutation) One of the sisters thought this was very odd indeed. She opted to have genetic testing done. It took months to get the results back. 

The lab that does the testing has to check all of the 13th and 17th chromosomes (that’s the chromosomes that the BRCA1 and 2 are found) They found a mutation on her chromosome 13. (
2558insA) is the exact name of the mutation that is in my family; ‘ins’ means ‘insertion’ some BRCA mutations have ‘del’ in the name; it means they have a ‘deletion’. I am by no means qualified to really explain the whole insertion/deletion thing, but I do know that the normal BRCA gene has neither.  :)


Once this cousin found out she tested positive for the BRCA2 mutation she informed the family.  A very brave move on her part.  Some people want to know nothing about this.  I am forever grateful she chose to share.

Now we have to make a few assumptions (to be proven shortly). Her father was my Great-Uncle; my Gramma’s brother. My grandmother had breast cancer and ovarian cancer.  She passed away years ago, so there is no way to really KNOW if she had the mutation as her brother did. BUT we can assume so, since the chance of developing both cancers is actually quite rare. (Outside of the BRCA community)


SO, Gramma we think, had the mutation. Every child she had, (there were 9) had a 50/50 chance of inheriting that mutation from her. So, if my Dad had it; there was a 50/50 chance it was passed to me as well. So when we first learned of the whole deal there was a 25% chance I would actually carry the varient gene.


My Dad was tested, he chose not to tell us his results, or even if he had went to get his results. He didn’t want to influence our choice to get tested. I chose to go ahead and do it. I figured, I’d rather know and deal with it, than always live wondering.

It is all done by a simple blood test.  Because they knew were to "look" for the mutation (based on my cousins result's)  It only took a month or so before my results were in.  


I remember when my husband and I went to the Genetic Counselor’s office to pick up my results. Her first words to me where “OK, it’s not good news. You have the mutation."

I was okay with hearing that.  Really.  I know some people break-down and see it as a death sentance.  I don't.  I see it as a 'heads-up'.


I will forever be grateful to this cousin. Not only for her strength and bravery to have the genetic testing done first, but to be open enough share it with others. It’s not easy. It’s not an individual thing, it affects the whole family. Those of you who have this mutation in your family know exactly what I mean. Because of her I have a chance. I have a chance to fight cancer and beat it, before I even SEE it!