BRCA 2+ Unspecified Variant anyone??

sanbar8771
sanbar8771 Member Posts: 281
edited June 2014 in High Risk for Breast Cancer

I just wondering if anyone had this gene like myself and if they knew anything about it. I have already been to the force website and I didn't find anything new. What makes this gene different than the regular BRCA 2 or 1 gene??

Julie

· Share on FacebookShare on Twitter

Comments

  • MiniMacsMom
    MiniMacsMom Member Posts: 595
    edited December 2011

    Alright, I just got tested today and the counseller told us about this possibility.  Now, I am not an expert and I could be wrong but she said that if you are unspecified they don't know what the difference does.  There is the normal gene and the BRCA mutation but the unspecified is a mutation on the BRCA gene that is not the same as the BRCA mutation.   Does that make sense.  She said that they would "follow us" for a few years until the could pinpoint how or why the mutation works.  She also said the more people in your family that are tested for BRCA that have your unspecified variant (the better it is for understanding your type of mutation).  I hope this helps and I hope someone comes along who has gone through this and can help you :)

    · Share on FacebookShare on Twitter
  • MK87
    MK87 Member Posts: 2
    edited June 2012

    My mom was diagnosed in Feb 2012 and her BRCA2 was unknown/unspecified variant. Myriad, the testing facility had only 9 other samples w/this variant. We were told by the genetic counselor that Myriad keeps track of these results and will contact my mom's Oncologist when they have more answers about this variant.

    · Share on FacebookShare on Twitter
  • sanbar8771
    sanbar8771 Member Posts: 281
    edited June 2012

    What kind of cancer did your mom have? What did the genetic counselor say about the gene?  Do they know anything? Maybe about possible reocurrance?

    · Share on FacebookShare on Twitter
  • sweetbean
    sweetbean Member Posts: 1,931
    edited June 2012

    I have a "variant of undetermined significance."  Here is my layman's take on genetic variations.  Think of the gene as a sentence - "I saw a bird."   Now think of the variant as a letter.  Spell the word "bird" as "berd" and the sentence is different, but the structure is maintained.  Everybody knows you saw a bird.   Now spell "saw" as "law."  Now the sentence is "I law a bird."  The structure of the sentence is no longer maintained. 

    So changes can exist in genes that don't change their expression.  However, some genetic mutations definitely change the expression of the gene, causing it to misfire in one direction or another.  When they have enough women and men with a genetic variation that have a specific type of cancer, then they can investigate what that variation might be doing to the expression of that gene. 

    · Share on FacebookShare on Twitter
  • sanbar8771
    sanbar8771 Member Posts: 281
    edited June 2012

    Sweetbean, that makes complete sense but I was curious if we have any other information about the gene?  Is there a way we could have made the mutation ourselves, like it was not passed down by our family? No one in my family has cancer that I know of and my mother was tested and she was negative. I guess even after 2 years I am still very worried that the cancer will come back even though I went through chemo, BMX, tamox, and zoladex for 2 years. I am 35 years old and really wanted children but at this point I don't think it is possible... or the risk might be too great. Sigh... just still feeling down even though I am NED. Thanks for the explanation. Julie

    · Share on FacebookShare on Twitter
  • sweetbean
    sweetbean Member Posts: 1,931
    edited June 2012

    Yes, genetic mutations can be spontaneous, but it is not that common.  However, everything has to start somewhere.  I wouldn't worry too much about your variant, though.  We have tons of variants - most don't do diddly squat.  The fact that you have no family history is significant. I'd be more reassured by that than worried by the variant. 

    Did you harvest your eggs?   Has your period come back?  There are fertility specialists that specialize in cancer survivors. 

    · Share on FacebookShare on Twitter
  • Anonymous
    Anonymous Member Posts: 1,376
    edited June 2012

    I have a BRCA 2 mutation of "unknown signifigance" too.  My breast surgeon says she likes to treat it like a "positive" and would have recommended a BMX even though I was eligible for a lumpectomy.  (I had already requested a BMX before I found out the BRCA results so that didn't change anything for me - although I do have to say if I was dead set on a lumpectomy, my BS's recommendation would have freaked me out.).

    My Oncologist says that there is a 95%+ chance that the mutation means absolutely nothing.  But then he'll mention my "possible" increased risk for ovarian cancer.  I think after I hit menopause I will have them taken out so I don't have to worry about THAT cancer too. Undecided 

    · Share on FacebookShare on Twitter
  • sweetbean
    sweetbean Member Posts: 1,931
    edited June 2012

    Wow, it is REALLY irresponsible of your BS to tell someone with a variant to think of themselves as positive.  All that unneccessary anxiety.  Your MO is right - it's very likely nothing.  Wow. I'm so mad right now.  

    · Share on FacebookShare on Twitter
  • Anonymous
    Anonymous Member Posts: 1,376
    edited June 2012

    I know, sweetbean!  Like I said...I had already decided on the BMX. But could you imagine if I was going for the lumpectomy?  She would have really stressed me out unnecessarily (in my opinion).  Though I think she is just super cautious about all things cancer.

    At my last follow up with her she's asking if I have any unusual coughs, aches, etc.  Starts looking at my skin moles asking if I have those checked.... something I wouldn't think twice if my MO did this... but thought it kind of weird for my BS to do this.  I just thought she was supposed to check the incision/chest area? For a second there, I thought she was going to get out the stirrups on the table! ;) 

    · Share on FacebookShare on Twitter
  • sweetbean
    sweetbean Member Posts: 1,931
    edited June 2012

    I know!  You would have been a mess and for what?  Inaccurate information that you will carry with you going forward.  That's the thing - your BS was just thinking that info would impact that decision, but she's wrong.  You would have been walking around thinking you were positive when the chance is very high that you aren't.  Ah, cancer.  The fun never ends, does it?  :)

    · Share on FacebookShare on Twitter
  • sanbar8771
    sanbar8771 Member Posts: 281
    edited June 2012

    Sweetbean my Onco said the same thing. I am being treated as if I was positive.  I did not have my eggs harvested as I didn't have enough time to wait. I just finished my 2 year zoladex shot so next month would be the first month that Im not getting the shot. Are my periods supposed to come back?  I am not sure how I am going to feel once this drug is out of my system. I am still on Tamox though so I am sure the bitchiness will still linger.  Thanks for the information.

    · Share on FacebookShare on Twitter
  • sweetbean
    sweetbean Member Posts: 1,931
    edited June 2012

    Sanbar, did you do chemo right away?  I was able to delay chemo by one week - I think it was 3.5 weeks from the date of diagnosis to my first round of chemo, but it gave me just enough time to harvest my eggs. 

    My period came back 6 months after chemo finished.   I didn't do any ovarian suppressionthough.  How old are you?

    · Share on FacebookShare on Twitter
  • sanbar8771
    sanbar8771 Member Posts: 281
    edited June 2012

    I was dx on may 10th, 2010... had period. The I had lumpectomy June 9th. When it came time to discuss children I  had already started my period again so I was not able to harvest my eggs. I would have had to go on these shots for 3 weeks or take some meds. My onco wanted me to start chemo asap since I has 2 positive nodes and grade 3 cancer.  I started chemo 3 weeks later. I have been on zoladex for 2 years (just got my last shot this month.. yay) so my ovaries have been shut down and sort of protected the whole time.  I am assuming my period will come back in a few months now that I am only on Tamoxifen.  I am 35. I was dx at 33.  My onco said there is a chance to have a baby after I've been on tamoxifen for 5 years but by that time I will be 38 and I am so scared for the cancer to come back.  My DH does not want to have a child because of that reason. My mother is trying to find a surrogate but that is really expensive. IDK... just get really depressed about it.

    · Share on FacebookShare on Twitter

Categories