Well, I got my test results

[muppetinma]

...and I'm not really sure what they mean.  I have a "Genetic Variant of Uncertain Significance."  

BRCA1 sequencing and comprehensive rearrangement came back "no mutation detected."  BRCA2 sequencing came back with "Q148R (2671A>G)"

It then goes on to say "The BRCA2 variant Q1148R results in the substitution of arginine for glutamine at amino acid position 1148 of the BRCA2 protein.  Variants of this type may or may not affect the function of the protein encoded by the gene in which it is found.  Therefore, the contribution of this variant to the relative risk of breast, ovarian, pancreatic, or other cancers cannot be established from this analysis."

So I guess I'm not an immediate carrier for the "breast cancer gene?"  But what the hell is this mutation?  Do I need to do further testing?  Is it something to be concerned with?  WHAT DOES IT ALL MEAN???  Of course I get this in the mail at 6:30 on a Friday night.

@therealmc, any ideas?  Anybody else?  I'm off to play Dr. Google.  

[TrudyCampbell]

Did someone speak to you about this? I have no idea what it means, I'm just wondering.

[muppetinma]

Oct 24, 2014 17:45:59 GMT -5 TrudyCampbell said:

Did someone speak to you about this? I have no idea what it means, I'm just wondering.

Not yet.  I got the results in the mail.  I'm assuming my doctor will call me on Monday once they get to go over the results.  There's also a number circled at the bottom to call and discuss any questions regarding the results.  

[ruby412]

My understanding is that lots of people have benign genetic variations. It's normal. I don't know anything about this specific variance though.

[TrudyCampbell]

I'm kind of annoyed they didn't call you first. It's so hard to interpret this kind of stuff on your own!

[ruby412]

Oct 24, 2014 17:48:57 GMT -5 TrudyCampbell said:

I'm kind of annoyed they didn't call you first. It's so hard to interpret this kind of stuff on your own!

I agree. That's messed up! Try not to stress, Muppy.

[muppetinma]

I'm not stressed, actually. Just slightly annoyed that this was dropped on me on a Friday afternoon. The wording is just odd. I can't tell if it's a benign mutation or something I need to look into with a different test.

[TrudyCampbell]

I keep re reading it and I can't tell either. But, hey, let's celebrate that you don't have the main mutation!

[jenbelle]

Oct 24, 2014 17:57:19 GMT -5 TrudyCampbell said:

I keep re reading it and I can't tell either. But, hey, let's celebrate that you don't have the main mutation!

I agree, let's celebrate! 

[raynes]

Yeah, the timing of that is definitely annoying, but yay for not having the main mutation.

[imimahoney]

I'm kinda shocked that they sent you the results without speaking to you first. When I had my genetic testing done I met with the genetic counselor before I saw the results, that way they could talk me through the whole thing.

Either way, yay for no main mutation!

[rjamz]

So I asked H to read it - he said you have a variant in the BRCA2 gene that they think don't have proof that it causes cancer (or doesn't cause cancer) - it could be a normal mutation. Then he said something about the A replacing the G in your gene sequence, but my brain can't hold onto science info for very long.

It's a mutation no one has studied and it could mean something or it could mean nothing and your doctor or genetic counselor should go over it with you

[creamsiclechica]

I'm a shitty, shitty friend who didn't see this until now. I am so freaking happy that you don't have the main mutation. And I am frustrated for you that they didn't time it so you could discuss it with them, especially given the sensitive nature of it due to your family history. But right now, I am celebrating for you that there is a lot of good news to be had! Love you.

[jamaga2583]

Ugh, I'm sorry for the shitty timing, they definitely should have talked to you before sending out the results for this exact reason. But WAHOO that you don't have the main mutation!

[honeybee503]

I hope your doctor calls you soon to clarify. I'm very glad to hear that you don't carry the first gene mutation!

[earlybird]

I wish that you had gotten more clarification as to what your results mean, but I sure am glad that you're not an immediate carrier.

[browneyedhunni85]

I feel like this sort of thing shouldn't be sent by mail. How confusing. They should have someone going over the results with you.

[ktstorm]

How frustrating to get results by mail without talking to a doctor! That seems strange that they wouldn't have someone talk to you first. I'm glad you don't have the main mutation and bravo to the lovely ladies on this board helping clarify things for you.

[christidee]

That stinks that they would send you the results right before a weekend. Hopefully you get all of the answers you are looking for with therealmc and your doctor.

[jsillyfun]

So happy you don't have the main mutation! And so glad we have smart, sciency people in this board