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Listing our BRCA mutations - maybe we can find matches

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  • anneoftheforest
    anneoftheforest Member Posts: 9
    edited November 2014
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    georgiagator - I don't know how many genetic counselors are in your mother's area. But it might be possible to have her doctor send the referral to another office with genetic counselors. Usually doctors like to stay in their own medical group because it is easier but they should be able to send a referral to a different office and maybe one with less wait times. I have done this before with medical providers. Just a thought.


  • georgiagator
    georgiagator Member Posts: 5
    edited November 2014
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    Thanks anneoftheforest. My 84 year old mom lives in a rural area about an hour from Tampa. Maybe my sister will help her locate a different oncologist at a different cancer center other than Moffitt. I am having PBM surgery with reconstruction a week from tomorrow in Atlanta, otherwise I would get down there and help out.

  • georgiagator
    georgiagator Member Posts: 5
    edited November 2014
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    Thanks anneoftheforest. My 84 year old mom lives in a rural area about an hour from Tampa. Maybe my sister will help her locate a different oncologist at a different cancer center other than Moffitt. I am having PBM surgery with reconstruction a week from tomorrow in Atlanta, otherwise I would get down there and help out.

  • anneoftheforest
    anneoftheforest Member Posts: 9
    edited November 2014
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    georgiagator - I hope your surgery goes smoothly. That is great you were able to have your ovaries out before it became advanced.

  • georgiagator
    georgiagator Member Posts: 5
    edited November 2014
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    Thanks anneoftheforest. I'll have to keep reminding myself how lucky I am to have avoided full blown ovarian cancer, especially when I am not feeling my best after my upcoming surgery. It truly is a blessing.

  • Ginger_16
    Ginger_16 Member Posts: 23
    edited November 2014
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    I tested positive for BRCA2 gene variant of unknown significance c.5937C>G P.Ser1979Arg has anyone every seen this one ? my biological mother passed away of ovarian cancer at age 53 . I am 48. Thanks.

  • Ginger_16
    Ginger_16 Member Posts: 23
    edited December 2014
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    my particular variant is not classified by a very big lab either . so hopefully in the future someone will have information about it .


  • kwagart
    kwagart Member Posts: 24
    edited December 2014
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    brca2 c. 1813dupA

  • KerryGrl
    KerryGrl Member Posts: 3
    edited December 2014
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    I also have 8525delC. Irish family, original immigrant names Connelly and Murphy from the West of Ireland

  • KerryGrl
    KerryGrl Member Posts: 3
    edited December 2014
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    Hi. I also have the 8525delC mutation. It comes from my dad's family--two of his sisters died of OVCA, another had BRCA (treated successfully) and died of pancreatic cancer; one brother died of liver cancer, another had bowel cancer. His dad died of"stomach" cancer, which may have been almost any abdominal cancer--they lived in rural Sask. Canada & it was the 50s. Dad died of lung cancer, but he was a smoker so who knows? My sister died of ovarian cancer and I also have OVCA, though am luckier than my sister--12 years out, and many chemos, 4 surgeries later am still alive and enjoying an unexpected remission (sort of--CA-`125 rising but CT scans good). Two of four kids negative, two not tested yet. Irish family names are Murphy and Connelly--I haven't gone back farther than that, my paternal great-grandparents.

  • KerryGrl
    KerryGrl Member Posts: 3
    edited December 2014
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    Hi. I also have the 8525delC mutation. It comes from my dad's family--two of his sisters died of OVCA, another had BRCA (treated successfully) and died of pancreatic cancer; one brother died of liver cancer, another had bowel cancer. His dad died of"stomach" cancer, which may have been almost any abdominal cancer--they lived in rural Sask. Canada & it was the 50s. Dad died of lung cancer, but he was a smoker so who knows? My sister died of ovarian cancer and I also have OVCA, though am luckier than my sister--12 years out, and many chemos, 4 surgeries later am still alive and enjoying an unexpected remission (sort of--CA-`125 rising but CT scans good). Two of four kids negative, two not tested yet. Irish family names are Murphy and Connelly--I haven't gone back farther than that, my paternal great-grandparents.

  • Curlyq1974
    Curlyq1974 Member Posts: 87
    edited December 2014
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    Hi mutants!  (lol)
    I just wanted to list my mutation in case there are others with the same.  I am 3185insA.  I was the first in my family to find out I have this and I started a wave of family members testing, waiting, diagnosis and prophylatic surgeries when indicated.  What a year.  So far my mom is positive, her sister is positive, her brother (with two daughters) is negative - thank goodness.  I think a couple of my cousins (Aunt's sons) may have tested but I'm not sure.  My brother will test in the spring.  It is all so crazy how far medicine has come.  My maternal grandmother passed of ovarian cancer and if she knew that there would be a test some day, I'm sure she would have tested to prevent me from having bc.  Wishing you all a happy holiday!

  • tbabe
    tbabe Member Posts: 3
    edited December 2014
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    I have BRCA2 ...5104delAA.  I'm 58 years old and just found out last month, so I'm still fact finding.  Any advice?

     

  • Danaw24
    Danaw24 Member Posts: 1
    edited December 2014
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    I am brca1 185delAG and brca2 6174delT

  • AlexaP
    AlexaP Member Posts: 90
    edited December 2014
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    Tbabe- sorry you have become a member of the brca club... But you are on the right track. I was Dx BRCA2+ in June of this year and just had my mastectomy and BSO in November. I will be 50 in a couple of months.

    My advice is if you haven't already, go to the FORCE website. It is totally about BRCA and you will find a wealth of information there. The BCO site we are on is a great place for support. There is also a site called HysterSisters where you will find a lot of support for gynecological issues. Since I had surgery and went into surgical menopause it has been an invaluable source of support for me. Just take your time, educate, ask as many questions as you need to - and know you're not alone. (Hugs)

  • tbabe
    tbabe Member Posts: 3
    edited December 2014
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     AlexaP,

    Thanks so much for your kind reply.  I did call directly to Myriad to ask the questions I could think of.  They were very nice and it was somehow comforting to speak to a human being and just not be a gene sequencing number.  Hope you are feeling better each day from your surgery. I am connected to the force... So let the Force be with us!!   Thanks...xo

  • bestock
    bestock Member Posts: 186
    edited December 2014
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    Are any of you BRCA women aware if the genetic component causes cancer to be more aggressive. I had stage 4 OVCA and now metastatic Breast cancer in my liver...please let me know I do not seem to be doing very well. 2 years from mets dx...

  • traveltext
    traveltext Member Posts: 1,053
    edited December 2014
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    BRCA1 Gene: A single BRCA1:c.135-62T>C sequence variant, the significance of which is unknown.

  • anneoftheforest
    anneoftheforest Member Posts: 9
    edited December 2014
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    Bestock - I've read different articles on BRCA+ cancers and their aggressiveness. From what I have read BRCA+ cancers are not more aggressive. However BRCA1 cancers can often be triple negative which can be more aggressive especially if left untreated. I know they are constantly doing research so someone else might have more current research.

    I'm sorry you are struggling right now. You have been through so much. God bless you.

  • Brca277
    Brca277 Member Posts: 2
    edited December 2014
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    Hi!

    Like Melinda, I too am BRCA2 + 2157delG. I would love to try and chat with someone who has same mutation, as I do not fully understand my report. Any help that could be offered would be greatly appreciated

  • Brca277
    Brca277 Member Posts: 2
    edited December 2014
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    If anyone understands frameshift mutations and how to read the results, please reply. I am having a hard time remembering all the jargon given at the time I was found to be BRCA2+. My mother is currently being tested for the gene, and I would like to be helpful. Thanks a bunch for your help

  • FireFly83
    FireFly83 Member Posts: 1
    edited December 2014
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    Hey y'all! Just thought I'd share my mutation. I tested positive for BRCA2 5104delAA.

  • spiljay
    spiljay Member Posts: 1
    edited December 2014
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    My sister and I both are IVS5-11T>G. Thank you very much! We don't know much about our family tree, so this helps me make decisions for my family. Especially my daughter who is 22.

  • claris_101
    claris_101 Member Posts: 1
    edited January 2015
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    I have the BRCA2 2157delG, along with the rest of my surviving family members that have been tested (mother, aunt, sister).

  • Ginger_16
    Ginger_16 Member Posts: 23
    edited January 2015
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    I have the variant c.5937C>G also known as p.Ser1979Arg in exon 11 . My biological mother died of ovarian cancer early. Today my doctor says we should wait until I hit menopause then remove my ovaries. Removal of my uterus is still up in the air . Hoping we might have a few more pieces of information before then. Meanwhile , we watch for 2 years how I am doing. Also, has anyone ever experienced a lump on the breast bone ? I have one under my right breast which does not show up on my mammo but can be felt . I was told today it is not a problem since it is not in my breast . Thanks.

  • Jean143
    Jean143 Member Posts: 2
    edited January 2015
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    I am BRCA 2 1325ins T - newly tested (Dec. 2014) I have not seen the assessment team yet, what exactly do these numbers mean? I do not have any cancer that I know of yet. But I have lower right quadrant pain abdominal and have been followed closely for microcalcifications.

  • anneoftheforest
    anneoftheforest Member Posts: 9
    edited January 2015
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    Hello Jean143,

    The numbers tell specifically where on the BRCA2 gene the mutation lies. There are many different sets of numbers. As more mutations are cataloged by researchers then they can see what kind of cancers people with these different mutations have.

    Now that you know you are BRCA2 you will mostly likely be screened every six months for breast and ovarian cancer as you are high risk. Do you have a family history of cancer? I was just curious why the doctors had you take the genetic test.

    Have you been to the FORCE website www.facingourrisk.org? It is a site devoted to BRCA. There is a good forum on there as well where you can meet others as well as info on local groups to meet others face to face. I'm BRCA2+ as well and have found that website very helpful in researching my risks and my surgery options in reducing my risks.

    I hope this helps a bit.

  • Jean143
    Jean143 Member Posts: 2
    edited January 2015
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    I do have a family history of cancers - breast, ovarian, brain and melanoma. Is there a research site that has info on the different mutations and incidences of specific cancers? I am in touch with FORCE adn will attend my first meeting the day after my assessment team meeting.

  • anneoftheforest
    anneoftheforest Member Posts: 9
    edited January 2015
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    Jean143 - As far as I know there isn't any site that shows that info yet. There are some mutations they have more info on than others. I called Myriad and I am the only one with my mutation in their database. Your genetic counselor might have more info on your specific mutation but there are many genes that come into play in each of our bodies so it is far from an exact science. There is also a thread on the FORCE forum where you can list your mutation and search for it as well.

    I hope your appointment goes well.

  • AlexaP
    AlexaP Member Posts: 90
    edited January 2015
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    I found a table with BRCA2 mutations and possible links but it hasn't been updated since 2000

    The link is

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

    Hope it is helpful