BRCA neg - yet BC young age like mom?

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aquamarine
aquamarine Member Posts: 18
edited June 2014 in High Risk for Breast Cancer

Hello ladies!

Wondering if any of you know if there is another type of gene mutation or genetic predisposiion for developing cancer other than the BRCA1 and 2 positives?



Both my mother and I developed bc in early 30s yet I tested negative for both BRCA gene mutations. I also (like mom) had other high risk factors like early menstration and taking The Pill in my 20s, though I've not had any kids yet.



Is it then just coincidence that we both got it in early 30s if I'm not BRCA positive?



Thanks!

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  • clariceak
    clariceak Member Posts: 752
    edited October 2009

    I had a very interesting meeting with a genetic counselor at Swedish Medical Center last month.  I thought it was very likely that I inherited the BRCA mutations because of breast and ovarian cancer on both sides of my family and my younger sister was dxed with breast cancer at 43.  I was tested for BRCA 1 & 2 and received my results in 10 days (typically takes 2 to 3 weeks) and I was negative.

    My genetic counselor had explained to me that even if my BRCA test came back negative, it was quite likely that there was another genetic mutation going on in our family that a test hadn't been developed for.  In other words, a negative BRCA test could be a "false negative".  He has recommended  that I consider ovary removal and I agree with him and I will pursue that option after cancer treatment.  My youngest sister is going ahead with her quest for a preventative masectomy, something I wish I had done earlier.

    Best wishes for you to find a answer that makes sense to you.

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  • nash
    nash Member Posts: 2,600
    edited October 2009

    I look BRCA positive on paper, but tested negative. I was told the same thing by my genetics counselor--that there is probably mutation in our family for which there is no test yet, and that I should get retested as further BRCA mutations are discovered.

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  • LISAMG
    LISAMG Member Posts: 639
    edited October 2009

    Another BRCA Un-informative Negative here with multiple BC/OVCA from both sides of my family. Clearly there is a genetic component with your family!! There are other genes out there, some identified and some are not, and some are known low penetrance genes. If you have daughters or sisters, they too will need HIGH surveillance. Best wishes.

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  • leaf
    leaf Member Posts: 8,188
    edited October 2009

    There are other known single genetic mutations that put one at higher risk for breast cancer - they are much less common than BRCA1 or 2, and at least sometimes put people at a much lower risk of breast cancer than BRCA1 or 2.

    For example, when I was genetically counseled, the genetics counselor thought I might be a candidate for having Cowden's Syndrome (a PTEN mutation). The genetics board thought that would be quite unlikely- and would only put me at a small higher risk of breast cancer.  (I chose not to be tested.) http://ghr.nlm.nih.gov/gene=pten

    The following gene mutations are also associated with an increased risk of breast cancer:

    What genes are related to breast cancer?

    (I won't list them here because the formatting doesn't turn out right for me, but they're listed on this website.) http://ghr.nlm.nih.gov/condition=breastcancer

     Here's more info:

    http://www.genome.gov/10000532

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  • Anonymous
    Anonymous Member Posts: 1,376
    edited October 2009

    At a  hospital seminar on cancer genetics that I attended a few years ago, the genetic counselor said they always recommend repeat testing if results are negative, as there are newer improved versions of the tests coming out all the time (literally every 6 to 12 months). She said they tell people in writing that a negative result is not 100% negative and sometimes can turn out to actually be a positive result on future more specific testing. (however, I don't think most people go back for the recommended repeat testing as most insurances probably won't cover it---my insurance won't even cover the initial BRCA testing as they say I don't qualify, even with LCIS and family history of ILC.)

    Anne

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  • HelenaJ
    HelenaJ Member Posts: 1,133
    edited October 2009

    My BRCA1&2 test came back clinically as negative however I had a few missense polymorphisms - which basically mean there were variances on the gene but they don't know what they mean and haven't, TO DATE, shown a higher incidence in breast or ovarian cancer.  Anyway, my information has been saved to their database and when they discover more information from more statistics, research etc. they may be able to define what these variances mean.  I have two daughters so I hope they find the answers soon.

    big hugs

    Helena

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  • Leah_S
    Leah_S Member Posts: 8,458
    edited October 2009

    I also have an extensive famuily history but tested negative for BRCA 1 & 2. My genetic material is now part of a research project trying to find other genetic mutations that raise the risk for BC.

    Leah

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