What does my test mean for my sisters?

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jctreehugger
jctreehugger Member Posts: 31
edited October 2016 in High Risk for Breast Cancer

I just got the results from my bloodwork this summer and I have none of the "high risk breast cancer" panel mutations. (ATM, BRCA1, BRCA2, CDH1, CHEK2, PALB2, PTEN, STK11, TP53) Does this mean my sisters don't have them either, or probably don't have them? I know it means I didn't pass the genes on to my teen daughter, which is great, but the report was less clear about the implications for my sibs and mom.

I majored in biology and chemistry, but genetics always escaped me!

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  • exercise_guru
    exercise_guru Member Posts: 716
    edited October 2016

    Well it works like this my father has the palb2 gene and my mom does not. Each of their children have a 50 percent chance of getting the palb2 mutation.

    I tested positive for palb2.

    So basically my sisters would have to be tested because they each individually have a 50 risk of having palb2

    So without data from your parents it doesn't necessarily mean your sisters have none of those gene mutations but the odds are in their favor because you tested negative.

  • jctreehugger
    jctreehugger Member Posts: 31
    edited October 2016

    Thanks exercise guru! This is what I was thinking, but I wanted to have a simple way to explain it to my sisters. The report was clear about many aspects but not that.

  • Denise-G
    Denise-G Member Posts: 1,777
    edited October 2016

    Hello, I am Chek 2 1100 delc - my sister (also had breast cancer) is as well. Her children have a 50% chance of having the gene. I don't have children. It is wise to see a genetic counselor who will help with the details about your family.

  • Hopeful82014
    Hopeful82014 Member Posts: 3,480
    edited October 2016

    jctreehugger - it's too bad that information wasn't clearly spelled out for you, preferably by your genetic counselor who would have been able to explore that issue (and others) in detail. My GC wasn't the best but she did discuss the implications for other family members, how extensive my outreach to the extended family should be, etc.

    In your situation, all of your siblings and your mother could benefit from testing, since someone (PCP, MO, GC) felt that you were a strong candidate for testing. If the family history of cancer is all on your mother's side, she could probably be tested and, if negative, the rest could assume that they are negative but, again, that's really something to explore with your GC.

    PS - Don't forget that males can be carriers as well and that some of those genetic mutations can affect them, so the discussion should include any brothers, too.


  • jctreehugger
    jctreehugger Member Posts: 31
    edited October 2016

    I spoke with my genetic counselor at length and she sent me a long report but the specific part about what my negative tests means for my mother and sisters was unclear to me because of the caveats attached. My interpretation was that it means the likelihood that they have the mutation is low, but it doesn't mean that they don't have it, and they should get tested if they wish. It doesn't appear to mean much for them except that I don't have the gene mutations! The good news is that I didn't pass it on to my kiddo. I was hoping some of the knowledgeable folks here could address the heritability question, and they did. Thank you!

  • mustlovepoodles
    mustlovepoodles Member Posts: 2,825
    edited October 2016

    I had genetic testing last fall after I found 19 cases of cancer in my 1st & 2nd generation family tree.  Turns out I'm PALB2 and Chek2 positive, gene mutations that can cause breast cancer, as well as other cancers (colon, pancreatic, lung, thyroid, and uterine, all of which are in my family tree.)  My genetic counselor advised that my children and siblings should be tested. 

    My father is dead--his mother had breast, uterine, and colon cancer. My mother is 82 and uninterested in getting tested, which is for the best anyway--if she turned up positive, she would beat herself up from now to kingdom come for passing the mutation on to me.  Since I don't know whether my mother has a gene mutation, and there are 3 cases of pre-menopausal BC on her side of the family, I also contacted all my 1st cousins and gave them a copy of the family medical tree and my test results. So far, 1 sister has tested negative for both (which is great, because she has a female grandchild), and the other two sisters are trying to get their testing done. At least 3 cousins have also started their testing.

  • edwards750
    edwards750 Member Posts: 3,761
    edited October 2016

    It's scary for my daughter and her 3 girls because my Mom had BC and my sister has it. I hope my daughter and granddaughters all get tested.

    Diane

  • Hopeful82014
    Hopeful82014 Member Posts: 3,480
    edited October 2016

    jctreehugger - I'm glad your counselor provided that much - and I think your interpretation is spot on.

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