Monday, December 28, 2009

The Test

Shorter version: even though I'm high risk no matter what, I'm still a good candidate for testing. A positive result: (1) means we will be super-aggressive with preventive measures and screening, instead of merely aggressive; and (2) provides context for any future testing by my sister or my kids. A negative result does not put me in the clear, but it at least means that I do not have a known mutation that I may have passed along to my children.

My genetic! Excellent! Right. Nasiha ordered a two-part test on my little vial of blood. Given that the ovarian cancer was on the Ashkenazi Jewish side of my family, first the lab will analyze only the three Ashkenazi "hotspots" (two BRCA1 and one BRCA2), which account for something like 98% of the mutations found in the Ashkenazi population. If one of those areas has a known cancer-related mutation, that's the end of testing - POOF high risk is me. If all three areas are negative, the lab will continue with the comprehensive testing to make sure I do not have identifiable BRCA mutations elsewhere. (There's a decent chance my dad had a BRCA2 mutation to pass along.)

I asked whether it made sense to run the full test from the start, just to have more information. Nasiha said she has encountered exactly one person in the past seven years who had a BRCA1 and a BRCA2 mutation, and nobody with two BRCA1 mutations ("the fetus probably wouldn't make it in utero" - which, it occurred to me a few hours later, could explain my mother's multiple miscarriages). She also said it really doesn't matter - if I have a mutation, I'm treated as high-risk-with-BRCA-mutation. Period. End of story. No need for more embellishment. So that's why we're doing the two-tier test.

Oh! Oh! And they want my mother's pathology report. Possibly also my father's, but I'm focusing on my mom's first. I called her gyn's office, which yes I know is not the same as her oncologist, but they are all from the same hospital system and I'm hoping a single person can help me out with everything. Also I'm hoping the records person mentions my mother's name to her former gyn, and that it rings a bell, because I loved that doctor to bits. Anyway - I called and left a voicemail right away, which was two days before Christmas. So very surprised I haven't heard back yet. I may call again today, but is it even worth trying to do this before 2010?

Next up: what it means to be treated as high risk for breast cancer and ovarian cancer.


At 11:31 PM, December 30, 2009, Blogger persephone said...

Er... I'm familiar with the 2-stage testing procedure (I think it's as much a financial/probability game as anything else - most mutations tend to be found there, so let's start with those, if it doesn't pan out then we'll pay for the rest) and yet I'm still confused by some of the reasoning she gave you.

There are differences between how someone with a BRCA1 vs. BRCA2 mutation is treated, yes? We know they lead to different chances of breast vs. ovarian cancer, so I would think different courses of action might be recommended...??

Although I suppose this knowledge relates mainly to the 3 common mutations, which is what they will test you for no matter what; I have no idea what is known/unknown about less common mutations, or what difference it would make.

I'm sure you understand what she said better than I do, which is the main thing: I'm just wondering.

At 11:39 PM, January 03, 2010, Blogger Erin said...

Just got back into town and caught up on your blog. I was wondering how you were while I was gone. I know very little about the chances but I will certainly be hoping for the best possible outcome for this. It's definitely scary.

At 12:37 AM, August 22, 2010, Anonymous roy said...

I think there no difference between There are differences between how someone with a BRCA1 vs. BRCA2


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