BRCA 1 & BRCA 2, What Does It Mean?

Somber tales

The news this week has been quite compelling for people as Angelina Jolie announced her undergoing a prophylactic double mastectomy to better her chances of not getting breast cancer as she tested positive for the BRCA 1 gene. There has been a lot of back and forth opinion pieces made about the choice she has made and as interesting and compelling as both sides have made it, it still comes down to this, having power to make the decisions YOU yourself have made for YOUR body. We cannot condemn someone for making a choice that was the best choice they made for themselves given the information they had presented to them.


It’s interesting, in the research that I have made there have been a lot of  amazing and astonishing stories of women who chose to have double mastectomies as a preventative measure without even knowing if they had BRAC 1 or 2! At first, I can honestly say I was quite shocked and thought it was really crazy to do that but then as I see people writing about how avidly against preventative surgery they are I considered one thing, if it were me, what would I do? Honestly, I can say this, when faced with the possibility that I would have BRCA 1 &2 I did decide if my test came back positive that I would go through with the double mastectomy with reconstruction to ensure that I lowered my chances.


So, a little bit about these pesky genes. As reported in Wikipedia, Both BRCA genes are tumor suppressor genes that produce proteins that are used by the cell in an enzymatic pathway that makes very precise, perfectly matched repairs to DNA molecules that have double-stranded breaks.[7]:39-50[8] The pathway requires proteins produced by several other genes, including CHK2, FANCD2 and ATM.[9] Harmful mutations in any of these genes disable the gene or the protein that it produces.


Now, I know there is a lot of scientific speak there, so let me break it down for you, your family can carry this gene on either side or it can carry both genes and your percentages go higher for possibility of breast cancer or ovarian cancer. Now here’s the jist of what I have gotten from it and I can honestly say that this is my take and not necessarily correct so if you are reading this and a science person, please correct me in the comments so I can not go further in life being misinformed as the purpose of this blog is to spread the information and not misinformation! OK, so, you have one of these 2 genes, it makes you more likely to be affected by a tumor that would have cancer in it. Now this is not to say that you are walking around with cancer in your body because that is not what these genes tell us, it tells us it gives you a lower chance of resisting a tumor, or suppressing it, as the Wiki reference states.


So the Wiki-reference goes on to say: Because humans have a diploid genome, each cell has two copies of the gene (one from each biological parent). Typically only one copy contains a disabling, inherited mutation, so the affected person is heterozygous for the mutation. If the functional copy is harmed, however, then the cell is forced to use alternate DNA repair mechanisms, which are more error-prone. The loss of the functional copy is called loss of heterozygosity (LOH).[11] Any resulting errors in DNA repair may result in cell death or a cancerous transformation of the cell.[7]:39-50


Yeah, I know, more science speak but it does help us get to the point. If your body comes in contact with a mutation, whether it be from environment, exposure in life, diet, etc. it is inherent that your body will resist as if there is an error code in your operating system. Kinda like when you go to a website and it says ‘File Not Found Error 404’. This means the body is not capable of giving it the good fight because it kind of goes into a hands-in-the-air screaming and running in circles mode and just does anything it can. Maybe even throwing oil on that kitchen fire making it worse, we really don’t know how it will react.


So, with all this science speak we come back to the decisions of women, and men, they do get breast cancer! What is the right choice for YOU if you are faced knowing you have both of these genes or even one? THAT my friend is up to you! YOU are the person who can best decide what that means you should do. After all, there are doctors out there on both sides of the fence on this one. All I can say is, I was worried enough with my family history to make the choice to get the genetic test done and move on from there. Never mind that none of the women in my family had the mutated genes, it was a sort of relief for me that I was not THAT much higher in the probabilities. I made my informed choice before I knew of the genetic mutation not even being in our family of breast cancer but it was MY choice to go forward and not have surgery simply because I felt it the best choice for me at that given time.


Another interesting point made from Ms. Jolie’s interview is the cost and patent on the genetic testing for women across the world. When I took the test in 2006 it was $3500.00 that was quite an expense and I can’t imagine it being a frivolous expense for anyone. The average person cannot afford this, and sorry, but the insurance companies will reject the test many times before it will agree to pay a portion of it. That was my experience. There was a Supreme Court case against Myriad, the company holding the patent to the BRCA 1&2 gene’s and the biggest message that this case brings to me is that a big company can actually be holding a patent, which by definition means:the exclusive right granted by a government to an inventor to manufacture, use, or sell an invention for a certain number of years.


So, how does a company own the right to a gene that naturally occurs in the body? How is it that, in this court case many other companies have testified to the fact that they can produce a cheaper test ($35-40) if allowed to use the technology that Myriad is controlling the rights to? I really get upset when big companies bully little companies because they are so scared of letting go of the reigns. A simple business tip? If you give stuff willingly you get things in return 10 times because you are doing the right thing.


Now, don’t get me wrong, I don’t believe that a company should give it all away, but when another company collaborates with you to create a newer and streamlined product for the betterment of man/womankind, HEY! Wake up call! I think it ends up being a win for all parties if you allow it. I would proudly use the name Myriad instead of how I feel now which is that they are mud. 😦


Let’s hope the news allows for a change in mindset. Let’s hope that Myriad stops grubbing money and allows for the change to happen, without a lawsuit! DO THE RIGHT THING! I can’t even get a copy of my gene test because Myriad will not send the results to anyone who is not a doctor! Cheers for that Myriad!

Wikipedia reference:


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