can anyone explain what VUS means in genetic testing?

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readytorock
readytorock Member Posts: 199
edited September 2016 in High Risk for Breast Cancer

I had genetic testing done over a year ago and have VUS in both ATM gene and PTEN gene. Genetisist told me nothing to worry about, they will let me know if they learn more. I haven't thought much about it until today I saw a post and saw information about mutations in both these genes and I'm googling and freaking out! From what I'm seeing PTEN is similar to BRACA and I should be getting a double mastectomy tomorrow!

So, what am I missing? Are there different types of mutations and what I have isn't so bad? Maybe I'm not understanding a difference between VUS and mutation?

If anyone has had this explained to them recently I would love to hear so that I can sleep tonight. Thank you!

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  • Imkopy2
    Imkopy2 Member Posts: 265
    edited September 2016

    I had that result on my genetic testing...basically the way my geneticist explained it was its a variable that has no known significance....however there are people who have similar mutation & right now it isn't a problem but they are keeping an eye on it. I was also told I would get a report on it if something changes but to check with her office annually. Yet another one of those big question marks of breast cancer.

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  • LisaAlissa
    LisaAlissa Member Posts: 1,092
    edited September 2016

    VUS=variation of unknown significance. So they are still researching what it means. It might mean that your variation is protective (making you less likely to get BC) instead of one putting you at greater risk. There's simply no way to know.

    From my point of view, I would just check in occasionally with the testing facility to see if there have been any determinations about whether that variation is still a VUS. Ask your genetic counselor how often you should check in with them.

    Best wishes!

    LisaAlissa

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  • Traveltext
    Traveltext Member Posts: 2,089
    edited September 2016

    I have BRCA1 VUS and have both breast cancer and prostate cancer. Until genetic science finds some significance to my variation I'm none the wiser. However, the evidence in my case suggests that my variation may be significant. Time will tell.


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  • suki1724
    suki1724 Member Posts: 60
    edited September 2016

    Hi,

    I have a variance of ATM that is "likely pathogenic", they are treating me as if I have the pathogenic ATM mutation. I also have a PALB2 mutation and an unknown VUS of PTEN.

    I am 50, had a hysterectomy at 39, I had no idea about my mutations at that time. I am trying to decide whether to have a PBM or do surveillance for awhile.


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