Variant of Uncertain Significance

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Jenny812
Jenny812 Member Posts: 160
edited June 2014 in High Risk of Recurrence or Second Breast Cancer
I am BRCA negative but my full tests just came back and I have a rare "mutation" that is a variant of uncertain significance. Has anyone heard or have that mutation? I am having a double mastectomy this summer due to DCIS but now I want to focus on my ovaries. Has anyone who has this diagnosis had their ovaries removed? I have been to the FORCE site. Any comments would be appreciated.
Jenny J.
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  • Candyce
    Candyce Member Posts: 65
    edited May 2007
    I have not heard of this, Jenny. Your genetic counselor should be able to explain what it means. Let us know what you find out.

    Thinking of you....Candyce
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  • Jenny812
    Jenny812 Member Posts: 160
    edited May 2007
    Candyce,
    It means that the gene mutation is not positive but it's not negative. They don't have a large enough sample to know it's implications. I'm wondering if anyone has been diagnosed with this mutation.
    Thanks all.
    Jenny J.
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  • lilahope777
    lilahope777 Member Posts: 51
    edited May 2007
    Hi Jenny J - I too have a genetic variant of uncertain significance in the BRCA2 sequencing. Your analysis result should state exactly where and what the variant is. My report also states "Favor Polymorphism" which I expect yours does as well.

    I had no family history, but one of my younger sisters was diagnosed right after me. So, all of my sisters had the genetic testing done. Interestingly, while a few of my other sisters have the same variant/polymorphism, my sister who actually had breast cancer did not! We grilled my oncologist with questions. Bottom line that our variant has only been cataloged/tracked in less than 50 people and of those tracked, none had breast cancer.

    So my oncologist did not recommend having my ovaries removed. However, I am going to approach him again with more questions as to whether this would be an option considering I am highly ER positive.

    I'm not sure if this helps...ask any additional questions. But definitely talk to your oncologist or a genetic counselor for more information on your particular variant.

    Janet
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  • Jenny812
    Jenny812 Member Posts: 160
    edited May 2007
    Janet,
    Thank you - this helps a lot. My mother died of breast cancer and my sister is BRCA positive (but she didn't have the full culture). I was negative for the mutations that my sister has but they decided to run the entire gamet becuase of my DCIS and since I'm already doing a double mastectomy. I need to decide what do do with my ovaries. I don't know what strain since I haven't gotten my written report yet, though it is rare- under 50. I just got the results yesterday, so haven't figured out all the questions to ask yet. Thanks again. It's good to hear from someone who has a similar diagnosis.
    Jenny J.
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  • Candyce
    Candyce Member Posts: 65
    edited May 2007
    I have a varient that is not well known but I still am considered BRCA2+. For my geneticist at U of P it was the first time she had that result.

    It was still considered positive though so I knew I had to have my ovaries removed. That is the big focus as having them removed not only protects against ovarian but also breast cancer.

    I think a big determination is how you feel about it. I had oophorectomy at 51 and did not feel any change. I had gone through chemo pause the year before. I don't even have a scar. I was back to work in a week.


    Thinking of you...Candyce
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  • lilahope777
    lilahope777 Member Posts: 51
    edited May 2007
    Candyce - I wonder why your geneticist is considering you as positive for BRCA2 when it was the first time she had seen the result. Did she find data that shows others with your variant as having had bc and/or oc?

    There is an interesting website by the National Human Genome Institue at http://research.nhgri.nih.gov/bic/ . I wasn't able to find my specific variant but I found the information helpful.

    Janet
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  • lilahope777
    lilahope777 Member Posts: 51
    edited May 2007
    Jenny - I would be curious to know what your variant shows. Mine (my sisters too) is "substitution of aspartic acid for asparagine at amino acid position 900 of the BRCA2 protein" and the polymorphism is on the recessive allele.

    Janet
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  • Jenny812
    Jenny812 Member Posts: 160
    edited May 2007
    Janet - I sent you a PM. Candyce- I'm not sure of what I'm about to say because this is all new to me but because you didn't know what a variant of uncertain signifacnce was (like I didn't before yesterday morning), I think you probably have a known but perhaps usual variant of BRCA 2? I understand from the FORCE website that you're either positive for BRCA, Negative for BRCA or have a variant of Uncertain Significance (also known as VUCS - variant of uncertain clinical significance). I'm really now sure of any of this. I am hoping other women who have tested for VUCS will chime in. Thanks all.
    Jenny J.
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  • veggievet
    veggievet Member Posts: 72
    edited May 2007
    Dear Jenny,
    Please e-mail me (rather than private since I don't always log on to the site) and I'd be happy to talk with you more off the boards.

    sueanddan@att.net

    Warm regards,
    Sue
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  • Candyce
    Candyce Member Posts: 65
    edited May 2007
    The heading of my paper from myriad states:

    "Positive for a deleterious mutation"

    It goes on to say:

    The results of theis anaysis are consisitent with the germline BRCA2 mutation L2926X, resulting in premature truncation of the BRCA2 protein at amino acid position 2926. Although the exact risk of breast and ovarian cancer conferred by this specific mutation has not been determined, studies of this type of mutation in high-risk families indicate that the deleterious mutations in BRCA2 may confer as much as an 84% risk of breast cancer and a 27% risk of ovarian cancer by age 70 in women. ....

    Does this help explain?

    I guess if I have to be a mutant...I am an interesting one!

    Candyce
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  • Jenny812
    Jenny812 Member Posts: 160
    edited May 2007
    Thanks Sue. I've just emailed you.
    Candyce - I don't think you have VUCS. Thanks anyway for sharing!
    Jenny J.
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  • Candyce
    Candyce Member Posts: 65
    edited May 2007
    I think you are right Jenny. It is in the BRCA 2 grouping just isn't a usual one. I think I understand it a bit more now. Your post made me look into it more.

    It is a strange place you are in with VUCS. I wonder how many there are that have this and if they have any data on how this affects them.

    Thinking of you!

    Candyce
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  • moonlght49
    moonlght49 Member Posts: 3
    edited June 2007
    I too, was tested and came out with "variant of uncertain significance", in BRCA2. the results also go on to say that it doesn't rule out all inherited risks factors.
    I am considered increased risk for developing second cancer.
    But I already knew that. The rest of the test for BRCA was inclusive...
    I had a hysterectomy because I had a mass in my left ovary and my uterus wall had thickened. Not usual for someone my age and being on Armomsin.
    My doctor as of yesterdays appointment suggested I have double mastectomy.

    Ali
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