Negativity (Genetic Testing Pt. 2)

So, it’s official – I’m negative. After a second range of the most exhaustive gene testing available, I still came up negative for BRCA 1/2. It seems crazy, but it’s true. Yes of course I am happy, but I agree with the “consensus of the genetic team”: that there is most surely some genetic connection to my breast cancer, but it’s something that we’ve yet to discover. Even though there are no more tests we can do now (except for some rare genes that also carry other obvious physical markers which I clearly don’t have), I have left some extra blood behind and signed a bunch of papers giving permission for my blood to be used in future studies should something appropriate come up. Perhaps I will help discover a future mutation after all, even if I don’t know it.

What I didn’t get back here to explain yet was what I learned in the meeting about BRCA 1/2. Of main interest is the fact that, because we use the language “I tested negative for BRCA 1/2” (and phrases like that), I always thought that BRCA 1 and BRCA 2 are the names of two mutations which cause breast cancer. But that is not so. BRCA 1 & 2 are the names of two regular ol’ genes that we all have, genes whose job it is to defend against cancer (and it seems breast cancer in particular).  So if you “have BRCA 1” that means you have a mutation in the BRCA 1 gene which makes it less successful in its quest to ward off bad breast cells. It is because of these 2 genes’ general cancer fighting job that there are other cancers that are liked with BRCA 1/2. This also clarifies why the two genes each have a unique set of other illnesses that they indicate a predisposal to.

This understanding has made me realize that having a BRCA mutation may well be likened (in my own mind) to alcoholism. I didn’t get how the risk factors of my job and a family history worked together – I thought they were opposing possibilities to why I got cancer. But in fact, they would have worked together, just like a person with alcoholism in the family may or may not become an alcoholic. Put them in the right conditions and they are very likely to do so, while someone else subjected to those conditions (without alcoholism in the family) is less likely to become an alcoholic – but they still could anyway if the conditions are strong enough. For me, this is very insightful.

So, we all have BRCA 1 and 2 genes – it’s just a question of whether or not they’re “normal”. Put into context, the repeated gene testing reveals that I have no malignant “misspellings” in my BRCA 1/2 genes. But the suspicion is that there is a mutation on another gene that we haven’t yet mapped or perhaps have not yet identified as cancer-involved. While this could be seen as good or bad news, I choose to see it as good. The best of both worlds perhaps, since my female family members are motivated to be extra vigilant (and their insurances have a convincing case history to support that), yet there are no other particular cancers or illnesses associated with whatever that may be for us to be panicked about. Of course there is always the slight possibility that I just hit some statistical lottery with my cancer. Even if I didn’t win a desired prize, I will choose to consider myself lucky.

Side note: The concert ticket mystery is solved. A European friend needed an American address to where he could order tickets, as he is coming over for the concert. I didn’t realize the tickets would be coming from a random-seeming private address and had no idea just what kind of tickets he was ordering. I didn’t even know he was coming over for a concert! So hadn’t put 2 + 2 + x together. Which is fine, because – although I’m almost embarrassed to admit it – there wasn’t actually anyone playing at the concert whom I particularly cared to see. I know I should want to see Earth, Wind & Fire or Eric Clapton…but I don’t really. So it’s all good – enjoy the concert, friend!

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1 Comment

Filed under breast cancer

One response to “Negativity (Genetic Testing Pt. 2)

  1. Hi there,

    I just stumbled upon your blog and wanted to commend you for your positivity in light of the negativity. I’m BRCA2+ (and, at 30, have not yet have breast cancer — and never plan to, that’s why I’m having a preventative mastectomy in December. I’m blogging about this at goodbyetoboobs.blogspot.com) and I’ve met a lot of women whose families have horrible histories of breast cancer but no known mutation. As you said, there is very likely BRCA 3 and 4 and 5 and 6 mutations yet to be discovered, and it’s so great you left behind genetic material so that your sample may help others some day. I’m sorry breast cancer visited you so early in life. I look forward to following your continuing recovery and hope you will check out my story.

    Cheers,
    Steph H

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