Chek 2 Mutation

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smackan
smackan Member Posts: 47
edited December 2020 in Genetic Testing

For anyone that has a Chek2 mutation, were you recommended to have a mastectomy by your BS or RO? I just learned I have Chek2 c.470 T>C (pI157T). I am meeting with my BS and RO next week for pre-op appointments for a planned lumpectomy and oncoplastic reduction. No one has mentioned that I should change my plans or have a mastectomy since I received the results of the genetic testing.

Did you do any other screening for the other cancers that now have increased risks (colon, thyroid, ovarian, kidney)?

I would love to hear any thoughts as I am newly diagnosed with BC and now the Chek2 mutation.


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  • Moderators
    Moderators Member Posts: 25,912
    edited July 2019

    Hi Smackan, welcome to BCO! We're sorry you find yourself here, but we hope you find this to be a warm and supportive place. We understand you're faced with quite a bit of uncertainty - it sounds like you have a plan in place, but perhaps discussing other options with your doctors is a good idea at your appointment. The more information you have, the better you're able to make an informed decision that you're comfortable with. Please keep us posted on how it goes!

    The Mods

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  • Lindzfay
    Lindzfay Member Posts: 16
    edited July 2019

    I had a right side mastectomy due to cancer and the left 3 months later after I found out about my chek2 mutation. I also am being screened for ovarian, thyroid, and colon cancer. We have the same mutation.

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  • Lindzfay
    Lindzfay Member Posts: 16
    edited July 2019

    I had a right side mastectomy due to cancer and the left 3 months later after I found out about my chek2 mutation. I also am being screened for ovarian, thyroid, and colon cancer. We have the same mutation.

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  • kber
    kber Member Posts: 394
    edited July 2019

    My chek2 variant was of "uncertain significance" so it wasn't the only factor in my decision to have a BMX. Thrown into the mix - extremely dense breasts, triple negative status, strong family history, and the original cancer in my left breast was very aggressive. There was no "home run", but rather a preponderance of factors that led me to my decision. My MO strongly recommended I consider a BMX. My breast surgeon was somewhat neutral, but supportive generally.

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  • Elijahgirl
    Elijahgirl Member Posts: 158
    edited September 2019

    Having bilateral mastectomy was highly recommended due to strong family history of breast cancer and the chek2 gene. I went in to have a prophylactic surgery. Only to find out after from the pathology report I had it in both breast. You never really know what to do I suggest to get as much advice as possible. In my case being proactive saved my life it was caught early and prevented me having follow up chemo or radiation



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  • Territarti01
    Territarti01 Member Posts: 2
    edited December 2020

    hi. Yes , i had phenomenal advise, prof carol benn, to do bilat mastectomy with recon after chek 2 diag. Turned out i had had thyroid ca at time for 3 years, unrelated to breast. Luckily breast was found and dealt with first. So glad I listened after later seeing chek2 mutation & onco recommended throat mri as all tests were normal prior to bc , of thyroid which was immediately removed.

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