Genetic Testing

Today I had a Cancer Risk and Genetic Assessment done. This involves a long talk about your family history; ages, illnesses, cancers, deaths. It’s a very involved process. Interesting too.

But it all boiled down to one vial of blood. And that vial of my blood is now being sent to a lab in Utah to see if I have the BRCA 1 and 2 genetic deformities in my DNA. We all have the BRCA genes. All of us. Men and women. Some of us have deformities to it. And in about 2 weeks I will know if I do.

So the info I am about to share is what I learned today, to the best of my knowledge. I have pages of notes that I took while I was there but that doesn’t mean that I am 100% accurate in what follows.

There are three different results I could get from this test.

1.       I could be BRCA +. That means I carry a hereditary gene that causes breast cancer. So, just because I have breast cancer doesn’t mean I have that deformity. If it is positive, it will be suggested that I have my ovaries removed. Because our ovaries produce estrogen and my estrogen is behaving badly. If it’s positive they would suggest my mom get the testing too. Her ovaries were removed at a young age so it’s possible that she has avoided breast cancer due to a BRCA deformity because of that. If she is positive then it will be suggested that my brother (yep, a man) be tested (he could be a carrier…and then so could his son….and his….and it’s also linked to other cancers too, like prostate), and all the women on her side of the family. If her test was negative then they would suggest that all the women on my fathers side of the family get tested (funny, I don’t remember her saying my father should be tested). If I am positive then they would suggest that Michelle get tested at the age of 18. And then start regular mammograms at the age of 29, 10 years younger than the age her mother was when she got diagnosed with breast cancer. If I’m positive my risk for a second form of breast cancer goes up to 64%.

2.       I could be BRCA -. And if that’s the case, then my genes didn’t cause this cancer. And I will never know what did. Malfunctioning cells, I suppose. And my risk for forming another type of breast cancer is the same as the general populations. But they would still suggest that Michelle start breast screening at age 29.

3.       The results could come back as “Variant of Uncertain Significance”. This happens to <3% of the population. As a side note….you know that saying “bad things happen in 3’s”? Ok, 1, some of you know about the elbow surgery I had in January. They found a muscle in my elbow at that time that only 5-8% of the population has. 2, I have a form of breast cancer usually found in post menopausal women. And 3, well, I think that’s going to be this weird variant. If it did come back as this, there is another test called the BART test. I don’t know what those letters stand for but I know that I don’t meet the insurance companies two guidelines for having this test. I would need to have been diagnosed with breast cancer under the age of 50. Which I was. And I would need to have 2 or more family members who have been diagnosed with either invasive breast cancer or with ovarian cancer. Which I don’t. And this test is upwards of $700. So nothing like the man making it easy for women to take care of themselves, huh?

Here is something I wrote real big on my notepad: Having a double mastectomy removes 95% risk of another breast cancer!! Unfortunately I don’t know if that is a general statement or if that would be with a positive or negative result.

Either way, it reinforces my decision.

And I was told that often women with a family history of breast cancer who have this genetic testing come back positive often remove both their breasts prophylactically, and not because they have breast cancer.

And that also reinforces my decision.

And while I ask you to respect my decisions I will respect yours too. But let me be Jane here for just one moment. If breast cancer is in your family and the worry that you may get it is always in the back of your mind, go get this test. Even if you don’t really know your family history. Go anyway. I bet you could get this test and then just hold on to the results until when, and if, you are ready to find out. At least it’s there. I'll go with you and hold your hand.

I did this test for me. Not because I have breast cancer but because if it’s positive I want to have my ovaries removed.

And I did it for Michelle. So she can be prepared with the knowledge she needs as she becomes a woman.