Chek2 Mutation

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Cunninghsm07
Cunninghsm07 Member Posts: 11
edited September 2019 in High Risk for Breast Cancer

I had genetic testing done due to family history of breast cancer and a scare with a lump that ended up just being PASH. No family has had genetic testing.I was actually surprised when my results were positive for chek2 c.470t and for another mutation that they just don’t know enough about to know if it is worrisome or not. The genetic councilor said with my family history and the chek2 mutation that I should think about 1x yearly mammogram and 1x yearly breast MRI starting now (not waiting until I am 40) and a colonoscopy at 40. I’m close to 35, so a lifetime of screenings and worry is very anxiety provoking. My counselor said I could see an oncologist or just have my primary care doc monitor.

I have a lot of anxiety and am not sure what to do in terms of who I should see. Am I overreacting with my worry? Should I be asking any specific questions?

Thank you,

Sarah

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Comments

  • Meow13
    Meow13 Member Posts: 4,859
    edited August 2019

    Sarah, I think it is good to also get an MRI. I never knew I had extremely dense breast tissue until I got BC. My mammograms were not enough for me. So I get both once a year you can make it so they are 6 months apart alternating. The sooner they can find the cancer the better. Just because you have chek2 doesn't mean you will get cancer just puts you in a higher risk category.

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  • smackan
    smackan Member Posts: 47
    edited August 2019

    I have the Chek2 mutation as well and just had my daughter tested. She is 27 and tested positive and is starting her mammogram screenings at age 27. The recommendation is to screen 10 years prior to the age of diagnosis for a family member. She is seeing her primary care doctor and a breast surgeon. The screenings will become routine and not a focus after you get started. Also, there is a Facebook group for Chek2 that you may want to look into if you haven’t already.

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  • Cunninghsm07
    Cunninghsm07 Member Posts: 11
    edited August 2019

    meow13, thank you for the reminder that this mutation isn’t a guarantee for cancer. I admit I not thinking about this fact enough.

    Smackan, thank you for sharing you and your daughters experience. I didn’t know about the Facebook group, which I am going to check out.

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  • Hopscotched1
    Hopscotched1 Member Posts: 8
    edited August 2019

    Hi Cunning,

    I have CHEK2 mutation also, deletion of promoter exon 1. I’m 40 years old. I’ve been doing the close-monitor thing for a year now, and they found something to biopsy on the last MRI I had earlier this month. The core-needle biopsy was done today, MRI-guided. I don’t think you're overreacting at all. If you have any family history of bc, I would start the close-monitoring now.

    -Hopscotched1

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  • Meow13
    Meow13 Member Posts: 4,859
    edited August 2019

    Hope biopsy shows good results. I had a scare that turned out to be fat necrosis. Better to find out ASAP.

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  • gretchy
    gretchy Member Posts: 106
    edited September 2019

    I have a positive for the CHEK gene. In addition to just getting breast cancer for the second time my oncologist said I should be getting colonoscopies every 3-5 years. I'm 54 and my last one was at 50 they told me not to come back for ten years. As much as I hate all this screening the alternative of finding cancer at a later date is not good. Sorry we have this stupid marker.

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