Confused with Diagnosis Chek2

Mercurial123
Mercurial123 Member Posts: 4
edited June 2019 in Genetic Testing

Hello everyone,

I was diagnosed with positive pathogenic Chek2 gene two days ago. The results stated "this result is consistent with a genetic diagnosis of Chek2 associated breast cancer due to autosomal dominant Li Fraumeni syndrome"

My genetic counsellor didn't mention LFS. Looking online most of the information on LFS is regarding tp53 and not Chek2. Does anyone have an online resource or provide any information about LFS and Chek2 please or any information from your own experienced living with this?


TIA





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

    Hi Mercurial and welcome to Breastcancer.org,

    We're sorry to hear of your positive genetic test results, but it's great that you're being proactive about your health!

    According to our main Breastcancer.org site, on the Other Abnormal Gene Testing page, Li-Fraumeni syndrome is associated also with Chek2 mutation.

    We hope this helps!

    --The Mods


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  • santabarbarian
    santabarbarian Member Posts: 3,085
    edited February 2019

    Mercurial, is there a genetic counselor where you are being treated? Maybe you could make an appointment with them, if so, for more clarity?

    It sounds weird to me too, because I have a TP-53 mutation of "unknown significance" and of course the biggie on that gene is the mutation that causes Li Fraumeni, as you know. Li Fraumeni generally means getting lots of kinds of cancers, often in 20's or 30's.

    I think you need a convo with an expert. Another idea, if there is no genetic counselor at your hospital, is to call the testing people and ask them to explain it to you.

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  • santabarbarian
    santabarbarian Member Posts: 3,085
    edited February 2019

    I found some info... some people with apparent Li Fraumeni syndrome do NOT have the TP-53 mutation that is the known culprit. Yet they still seem to meet the main criteria of LF (early cancers, sarcoma, breast, Leuk, adrenal). So they investigated to see if other genes might be possible causes of it too. The study looked at women in the Netherlands who had Li Fraumeni-seeming cancers & first degree relatives with cancer too, and one of the genes they thought *might* be the culprit was Chek2, as it is somewhat more common in the Dutch population. They concluded it is nor a cause of LF, although it can contribute to other cancers, particularly breast.

    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC26643...

    https://www.uptodate.com/contents/li-fraumeni-synd...

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  • Mercurial123
    Mercurial123 Member Posts: 4
    edited February 2019

    Thank you!

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  • Mercurial123
    Mercurial123 Member Posts: 4
    edited February 2019

    Santabarbarian thank you, that's interesting. Chek2 seems to have the same susceptibility to cancers. Chek2 slightly lower other than lung cancer and brain which is higher. My genetic test results are making me confused it states "this result is consistent with a genetic diagnosis of Chek2 associated breast cancer due to autosomal dominant Li Fraumeni syndrome" but the research says otherwise?

    Thank you for taking the time to find these articles.


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  • joan888
    joan888 Member Posts: 810
    edited June 2019

    My oncologists's PA suggested genetic testing this past spring. I know of no one else in my family tree that was diagnosed with breast cancer. So, she thought there could be some other genetic link. Since Medicare now covers the testing due to my links to father's pancreatic cancer and my grandfather's kidney cancer, I decided to go ahead.

    My testing came back with a positive CHEK2. I had never heard of it before this. So, what to do.... of course, she recommended colonoscopy every 5 years. Since I have had BMX, I can forget any mammograms, MRI's, etc. My PA gave me a letter to pass along to my adult children and surviving brother to explain what my CHEK2 diagnosis means for them. My daughter jumped right on it and will be seeing her doctor soon.

    My PA did not mention anything about the La Fraumeni syndrome. So, I am trying to read more about that link. Maybe I need to make an appointment to speak to her again????

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  • Mercurial123
    Mercurial123 Member Posts: 4
    edited June 2019

    Hi Joan, There are over 100 variants for Chek2. Chek2 LFS is rare so you may be "just" Chek2. If you need further information join the Chek2 support group on Facebook. My variant is 1392 Del p which is one of the rarer ones and not much is known about it.

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