Genetic Testing #2

Posted Dec 23, 2014 8:55pm

So. My results came back from genetic testing. This would be the testing of my “good” DNA. The last results were from testing the cancerous tissue, and indicated 3 mutations (BRCA2, TP53, and APC). Mutations in the cancer itself are normal and expected, because cancer IS a mutation. But that test kind of indicates which genes I should have tested in the “good” DNA.
Since I refuse to mess around, I had a full panel of genes tested in the “good” DNA. About 30 genes or gene markers, whatever they are. I decided to do it this way, because my family tree did not necessarily bring up any “red flags” to focus on a specific gene, despite all the cancer in my dad’s family.
One gene showed up positive. As in, a germ line mutation. Something passed on genetically.
Was it the gene that causes colon cancer?
Nope.
It was the BRCA2 gene, which indicates way high risks of having breast or ovary cancer. WTF?
Even the genetic counselor was surprised by the results. Now, MAYBE research has not yet shown that colon cancer is also connected to this gene. Or, it’s just a big freakin’ sucky coincidence. WTF? Or maybe I am just special. Ha. Knew that already.
So what does this mean for me? Current treatment won’t change. But now I have to have breast MRIs and mammograms, each once a year but alternating every six months. Because I have, like, an 85% chance of getting breast cancer (40-80%, specifically). The best way to prevent it? Chop off the boobs. I’ll think about it. If I do get ’em chopped off, I’m going to ask that they put a little extra in when they reconstruct. Oh, also, the best way for me to avoid ovarian cancer is to get those bad boys removed as well. Sometimes they remove them when doing colon re-sections anyway, so I guess I would avoid an extra surgery. (I am not saying I am having a colon re-section anytime soon. We have to wait to see the chemo work it’s magic.). Yay, early menopause! This is all sooooo exciting.
It gets suckier. If Alexander carries the mutated gene, that means he is at a higher risk for prostate cancer. But he can’t be tested until he is 18. Thank God this gene doesn’t have any indications for childhood cancers.
And now my mom is going to get genetic testing done. My sisters should, too; but if they don’t, they will have to get mammograms and MRIs, just like me. Hear that, Chris and Caitlin? You should just chop off your boobies, too. Let’s have a mastectomy party.
On a good note, only one gene was positive.

Cancer sucks.

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