a question about gene testing?

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mbordo
mbordo Member Posts: 253
edited June 2014 in High Risk of Recurrence or Second Breast Cancer
My surgeon says I have a weak family history (aunt and grandma, both post-menopausal), so no need for testing - probably just bad luck...

My own mother, OTOH has been in a study and was considered high-risk because her mother had it (diag @ 59), her aunt (diag in her 60's)...since that time, the main risk factor has been determined to be age @ onset (her sister was also diagnosed @ 71), and now I have been @ 40. My mother is 75 and just went for her annual mammo - she is personally shocked this disease has not touched her! She said it was weird to check *every* box as far as family history this time (mother, aunt, sister, daughter) they told her if she doesn't have it by now, her risk is no greater than anyone else, and likely doesn't have the gene...

Should I push to be tested? I don't have a sister - but I do have a daughter...

Mary
DCIS 3/12, lumpectomy 3/16, still waiting on final pathology
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  • hi5-2006Aug13
    hi5-2006Aug13 Member Posts: 62
    edited March 2007

    I had the testing...I am the third of 4 sis to get bc...I am positive and so is my sis who had bc and all three of her daughters( in their 20's)

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  • wallycat
    wallycat Member Posts: 3,227
    edited May 2007
    I'm being tested because I have Ashkenazi background and was recently dx with BC (1 month shy of turning 50).

    If insurance would have paid for it sooner,I would have tested sooner. To me it is just more information to determine a plan of attack (if one is necessary).

    Best to you.
    No one can predict if you will test positive or not...sure, there are odds, but my radiologist said the odds of the breast MRI she was looking being cancer was less than 3%...go figure.
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  • veggievet
    veggievet Member Posts: 72
    edited May 2007
    Dear MBordo,
    Your surgeon is NOT an expert in cancer genetics. Please please please see a cancer genetics expert-they are the genetic counselors and geneticists. Your family history absolutely may be enough to justify testing. Here is a link to information on genetic counseling from the organization FORCE: Facing Our Risk of Cancer Empowered. FORCE is an organization devoted to hereditary breast and ovarian cancer.

    Please feel free to e-mail me at:

    sueanddan@att.net

    if you need help finding a genetic expert in your area. Cancer Genetics is a rapidly advancing field of research and it's hard enough for non-genetic docs to stay on top of their own field, let alone to also know genetics. If a board-certified genetic counselor agrees that your family history is "weak" then I would believe them but I don't think they will. The fact that you have 2 family members on the same side of the family with breast cancer in addition to your own premenopausal cancer is a red flag. There is evidence that breast cancer in those with hereditary predisposition is happening at an earlier age, which could explain why it might be post-menopausal for your relatives in the generations before you, and premenopausal in you. Please e-mail me, I'd be happy to chat with you further about this.
    Warm regard,s
    Sue
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  • mbordo
    mbordo Member Posts: 253
    edited May 2007
    Sue-

    Thanks for your concern - this was a post from some time ago. I got a second opinion from a surgeon @ a research facility - she strongly recommended gene testing. I was also referred to a medical oncologist who also said I would "easily get insurance approval, given my history". Sure enough, I had the blood drawn last week, and insurance quickly agreed to cover 90% - no hassle!! The oncologist set me up w/ a genetic counselor to go over results in early July.

    I may not test positive for BRCA 1 or 2, but I feel there is a hereditary component at work here. I am choosing to treat as if I am positive (i.e. aggressively)

    I will check out FORCE if indeed I am positive, and have other decisons to make...

    Thanks Again!
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  • wallycat
    wallycat Member Posts: 3,227
    edited May 2007
    I just got my results this morning.
    I had as many odds as we knew of that I would get some sort of mutation. My father is Ashkenazi, my mother is eastern european, I was born in poland. We had no history of my grandparents or my parents' siblings because of the war.
    I was diagnosed with BC 2 months before I turned 50...which I did Wed. and I thought for sure I would have some variant.

    I have nothing. No BRCA, no mutation, no variant.
    Life is very strange.

    Best to all who are waiting for results.
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  • Beesie
    Beesie Member Posts: 12,240
    edited May 2007
    Wallycat,

    A belated Happy Birthday wish to you!

    My background is not dissimilar to yours. I'm Ashkenazi on both sides, have missing relatives....some of the relatives I have did have BC or prostate cancer. I was diagnosed right after my 49th birthday. I turned 50 last September. No BRCA here either.

    Guess we're just among the lucky ones who get BC for no particular reason!
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  • mbordo
    mbordo Member Posts: 253
    edited May 2007
    Beesie and Wallycat-

    A relief, yet frustrating as well, I should think! Remember you may have a genetic variant that has not yet been discovered (BRCA 4, 5 or 6 as they sometimes say!) I don't have my results yet, but I assume they will be negative, too! Most of the women on my mom's side get BC eventually, but I am only the second pre-meno female, and definitely the youngest @ 40 (not a title I am proud to own!). My onc says my family history is "somewhat disconcerting - and too significant to be coincidental" - yet the affected individuals do not fit BRCA profiles (too old @ onset). So I'm not sure a negative result will give me much peace of mind...

    Mary
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  • wallycat
    wallycat Member Posts: 3,227
    edited June 2007
    Mary, any news for you yet? I will keep my fingers crossed.

    I do hear you about the unknown. It was 2 or so weeks ago that they found 4 more possible new breast cancer genes; those are in 60% or some odd number in women of European descent.
    I agree that they don't know enough yet (I did post the article somewhere on one of these boards--sorry--I get lost here :-( ).

    What I am finding strangely interesting is that those with BRCA mutation seem to be getting BC earlier and earlier. Where past generations were getting it in late 40s or nearly post menopause, many carriers today seem to be in late 20s and 30s. Knowing that the gene adds risk, I'm pondering how much the environment (pesticides, birth control pills, ozone levels, processed foods, growth hormones in cows,etc..) contribute to this disease. It can't be nothing ...at least not in my head.
    A
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  • mbordo
    mbordo Member Posts: 253
    edited June 2007
    Wallycat-

    I don't have my appt. until July 11 for results. I think they are already in (based on my discussion w/the lab and that they got instant ins. approval), but we built in extra time (for administrative hassles). I'm not really thinking about it - probably negative anyways. I need to get through surgery/recon. first!

    I think some people are simply genetically predisposed (even if BRAC negative) - explains why some families have high rates. I think if that is the case, some of us just need a single "trigger" to tip the scales (environmental, hormonal or whatever!).

    It is the only way I can figure how this all works! I have *No* risk factors aside from family history. I have childless friends who are heavy-set and have taken hormonal BC for 15+ years. Which of us *should* get ER+/PR+ BC @ age 40? Statistically, not me!

    So while I want to get the BRAC results, I can't say a negative will *really* give me peace of mind for my daughter!

    Mary
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  • Jinx
    Jinx Member Posts: 71
    edited June 2007
    wallycat
    I don't know what "Ashkenazi" is.

    But my father came from the Balkan area - "eastern Europe". What does "eastern Europe" have to do with hereditary breast cancer?
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  • Anonymous
    Anonymous Member Posts: 1,376
    edited June 2007

    women with Ashkenazi Jewish heritage have a higher rate of being positive with the BRCA genes

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  • LisaSDCA
    LisaSDCA Member Posts: 2,230
    edited June 2007
    Quote:

    What I am finding strangely interesting is that those with BRCA mutation seem to be getting BC earlier and earlier. Where past generations were getting it in late 40s or nearly post menopause, many carriers today seem to be in late 20s and 30s.


    This may seem to be the case in your personal experience, but believe me, BRCA-1 has been affecting young women all along. That is why early-onset is one of the primary risk factors. In my family (on the paternal side), I am the first woman in nearly 200 years to live past the age of 35 - sister diagnosed at 29. When I hit 45 I thought maybe I was safe. Nope - diagnosed at 49 (premenopausal). My surviving sister is BRCA negative, though!
    Early onset and triple neg. are huge indicators of this mutation.
    Lisa
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