Brca2+ just got lab report need help understanding it

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AlexaP
AlexaP Member Posts: 194
edited July 2014 in High Risk for Breast Cancer

help please!!!

my dr sent me the lab report at my request.

It says

"BRCA2 sequencing R2520x (7788C>T) deleterious"

"Comprehensive rearrangement no mutation detected"

I'm going to schedule a meeting with a genetic counselor but in the meantime if anyone here knows anything about this particular diagnosis I would appreciate some help.

I don't want to go online and get old info. Scared enough as it is...  Thanks.

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  • AlexaP
    AlexaP Member Posts: 194
    edited July 2014

    just found a table with each brca2 mutation and the associated cancers:

    http://mutview.dmb.med.keio.ac.jp/MutationView/jsp/mutview/html/brca2.html

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  • lintrollerderby
    lintrollerderby Member Posts: 483
    edited July 2014

    I'm sorry I didn't see your post earlier. You probably already know by now that it means you have a deleterious (harmful) mutation in your BRCA2 gene. There was no mutation detected on your BART test. Are you sure it wasn't (7558C>T) which is the other classification for R2520. 

    I found this online from calpoly.edu about your specific mutation: 

    As for the specific R2520X mutant allele: the R stands for the amino acid arginine at
    position 2520 and the X
    refers to any amino acid (or stop codon) other than arginine that may be
    translated due to the presence of a mutation. The nucleotide sequence that
    encodes for the wild-type arginine at this position is “CGA”. Any mutation
    leading to a sequence that encodes for an amino other than arginine (or a stop
    codon) would indicate that the person is positive for the R2520X allele mutant.

    If you haven't already been to FORCE facingourrisk.org then I highly recommend it. They are the largest organization for those with BRCA mutations or HBOC (Hereditary Breast and Ovarian Cancer).

    Best of luck.


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  • AlexaP
    AlexaP Member Posts: 194
    edited July 2014

    it probably is 7558C>T. My copy of the lab report is a little hard to read.

    I've been on FORCE website but have found little information there.

    Thanks for your help, I appreciate it.

    Once my stupid insurance changes over to the new plan I can start making appointments for all of these things.  Just trying to educate myself while I wait...

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  • lintrollerderby
    lintrollerderby Member Posts: 483
    edited July 2014

    FORCE has general info and can put you in touch with others in the same situation. The Mutation Specific message board is where you can connect with others who have the exact same mutation as you. The site is pretty good for keeping up with current research, but many of us do that on our own. I set up Google Alerts for BRCA, so I get most of my info on research and studies that way.

    Educating yourself is certainly a good thing with regards to BRCA. I hope your insurance issues are resolved soon. Just having that little piece of paper with those results opens the door to more intense monitoring of your ovaries (unless/until you have a BSO), and often closer attention is paid to colon and pancreatic health. For BRCA2, I know a lot of mutation carriers have a more thorough dermatology exam because oftentimes melanoma risk is increased. Testing positive definitely opens a can of worms.

    Best of luck.

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  • AlexaP
    AlexaP Member Posts: 194
    edited July 2014

    Thanks for helping me out with this!  yes these things are all coming into my radar which is why I'm trying to find others with the same mutation. I found a table that correlates this specific mutation only to early-onset breast cancer, which I had, but no other cancers in particular... So I'm wondering how accurate is this chart I found?  It was last updated in year 2000 - there must be newer stats?  I reached out on the forum you alerted me to, but the last discussion re my mutation was in 2009 so I'm trying to get reliable info from "the trenches"... People who are dealing with it now.

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  • lintrollerderby
    lintrollerderby Member Posts: 483
    edited July 2014

    No problem, I'm glad to help. There might be more current research, it just spends on how prevalent your specific mutation is. Let me do some digging and see if I can find anything. 

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  • Zer35
    Zer35 Member Posts: 8
    edited July 2014

    Hi alexap thanks for your post as I am too looking for more info on a positive result BRAC2 but my sequencing is E1308x ( 4150g>t). It's hard to understand strand of the gene testing. Sorry I can't help. 

    Lintrollerderby - the mutation message board is on FoRCE right 

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