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Why? January 1, 2014

Posted by Judy in Musings.
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“Why” is a question I have never asked myself.  Okay, so that may be a bit hyperbolic of me to say that.  Really, I’ve asked “why” many times. But never once have I asked myself, “Why do I have breast cancer?”  Strange as that may seem, I haven’t asked because I already know the answer.  On a spiritual level, it happened because we live in a sin-filled world.

A world where bad things happen to good people.

A world where sickness and sorrow are all too familiar.

A world where breast cancer affects 1 out of 8 women.

On a more scientific level, it happened because it is most likely in my genes.  You see, I have a huge family history of breast cancer.  I never thought I had anything to worry about, though, because it was on my dad’s side and I had the erroneous notion that the gene wouldn’t be passed through him since he was a male.  After I got the diagnosis, I started doing some digging into the family history.  We came up with eight relatives that had breast cancer:  six from my paternal grandmother’s side and two from my paternal grandfather’s side.  I’m no geneticist, but eight seems like a large number of people to be affected with the same disease!

Many of the people who had the disease are no longer with us.  Some succumbed to the disease while others lived a long life beyond the disease.  If they were all alive, we could do genetic testing on them and I bet we would find that all of them possessed a particular genetic mutation.  It’s called a BRCA mutation. Everyone has BRCA genes.  The problem arises when there is a mutation in those genes.  Those who have a BRCA mutation have a high chance of developing breast cancer at some point in their life and also ovarian cancer.   The original numbers I found were quite high, but after doing some research at cancer.gov (the National Association for Cancer which is a subdivision of the NIH), I found that their numbers are actually lower.   I’m very visual, so here’s a little chart to help state the info more clearly.  (BRCA1 and BRCA2 are two genes that are susceptible to mutations.)

cancer.gov

other sites

BRCA 1

BRCA 2

BRCA

Breast cancer

55-65%

45%

80-90%

Ovarian cancer

39%

11-17%

50%

As you can see, there is a big difference in the numbers.  A 90% chance is waaaayyy different from a 55% chance!  The NIH claims that the new numbers are lower because they have new information that is leading them to believe that lower numbers more accurately reflect the chances.  I’m still not sure what I think about it yet, need to do some more digging around.  Also, these are numbers for people with the mutation who do not have cancer.  Since I DO have breast cancer, I’ll need to look around for studies on ipsilateral or contralateral recurrence in people with the mutations.

On Friday, I had blood drawn to do the testing for the BRCA 1 mutation.  According to the geneticist, the fact that two of my living relatives have that particular mutation means that I have a 25% chance of testing positive for it.  That fact, coupled with the large number of women in my family who have had breast cancer and my own personal history of breast cancer make a very strong case in my mind that this diagnosis came as a result of genetics.

Now, as I understand it, there are several factors that point away from this being genetic and point towards it being just random.

1)  Lobular cancers are generally not genetic.

2)  Those with BRCA mutations generally have triple negative cancers:  estrogen receptor negative, progerterone receptor negative and her2 negative.  (Mine is only her2 negative.)

But really, those reasons are much weaker than the seemingly apparent genetic tie.

Some people might say that at the end of the day, it doesn’t really matter why I got it, as it’s more important to focus on treating it.  On a certain level, I suppose that is true.  But, I do have a daughter and 3 sons, and my brother also has a daughter, so it is of paramount importance that I sort out whether or not genetics played a role in the development of the cancer.

If the test is positive, I should hear back in about a week.  If it’s negative, it will take longer as the lab double and triple checks to make sure they didn’t get it wrong.  I will, however, be quite surprised if the genetic testing comes back negative for BRCA 1.  If that does happen, they’ll then go and do a full panel testing for the other BRCA and breast cancer genes.

Discovering the “why” is sort of a catch-22.  If genetics are not involved, them we are left wondering and asking and second-guessing.  If it is genetic, then we have the added stress of knowing that our progeny have a 50% chance of having inherited that gene from me.  *sigh*  No need to get all worked up over it, though.  One step at a time.

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Comments»

1. Marian - January 3, 2014

I love your memos to your cells. I think this will be a wonderful published book by the end of this adventure. You write so well. I love you and I support you!!


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