Variant of uncertain significance

Options
Elliemae32
Elliemae32 Member Posts: 72
edited June 2014 in High Risk for Breast Cancer

So I got my BRCA results in and I have a variant of uncertain significance.  Nothing is a simple yes or no for me!  They are offering free testing for my parents which I hope they do since it would affect my sister also.  Does anyone else have these results?  Is there anyother info on this? 

I am so confused,

thanks, Ellen

· Share on FacebookShare on Twitter

Comments

  • lioara
    lioara Member Posts: 4
    edited August 2008

    Hi Ellen,

    I took the DNA testing about a month ago and I have a rare mutation on BRAC 1 called N324 (something like that). I decided to do the prophylactic mastectomy just because I am too scared to live like this! For me I think is the best decision bc my mother was diagnosed about my age and I am thinking about this all the time! I have scheduled my surgery for Sep this year!
    Good luck to you!

    · Share on FacebookShare on Twitter
  • smithlme
    smithlme Member Posts: 1,322
    edited August 2008

    Ellen,

    www.facingourrisk.org is a web sire decicated to BRCA mutations. You should find others there who can help...

    Linda

    · Share on FacebookShare on Twitter
  • Daffodil
    Daffodil Member Posts: 829
    edited October 2008

    I had the same result on the BRCA1 test; completely negative on the 2.

    My oncologist said my children didn't have anything to worry about.

    (I had a bilateral mastectomy; lots of family history)

    If no one knows what it means, let's worry about something else!

    Good luck to you!!

    · Share on FacebookShare on Twitter
  • Mutd
    Mutd Member Posts: 148
    edited August 2008

    Most of the Variants of Uncertain Significance are B9, there is just not enough data at the moment to prove that they really have nothing to do with cancer. A smaller fraction of the Uncertains are dangerous, but again, without enough data to prove it beyond all doubts.

     But in the meantime, there is usually some info available, from the lab, from the web, from the research papers, to give you more or less good hints about the role of your specific variant. Does it track with cancer in the families? Is it in a known important region of the protein? Etc. Even though the proof is not final, it might help you decide if you need to take "your" variant seriously (and again most of them eventually turn out to have no clinical importance). And then, as more people are tested, and more research is done, the mist of uncertainty will gradually lift.

     So please do not ask for help about "an" Uncertain Variant. Always look for "the" specific one you have. There is a good long discussion on FORCE message boards about specific variants. If you have time to read through its many pages, you'll find many helpful hints there.

    http://www.facingourrisk.org/messageboard/viewtopic.php?t=15552

    · Share on FacebookShare on Twitter

Categories