CHEK2

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mkkjd60
mkkjd60 Member Posts: 583
edited November 2015 in Genetic Testing

Hello, I have been on this site while my mom had bc. She passed from it 2 years ago. My best friend of almost 40 years had bc. She is 55 and was stage 2 at 45 years old. Lumpectomy, chemo, aromasin. She recently tested positive for CHEK2 mutation. Her mom also died of bc, albeit at age 81.

Can someone advise whether there are any clinical trials to address the CHEK 2 mutation? Also any info you can provide would be helpful. Thank you so much.

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  • vlnrph
    vlnrph Member Posts: 1,632
    edited October 2015

    So sorry you find yourself back on this site. Your friend may want to look up the PROMPT study. It involves four major cancer research centers gathering patient reports of genetic testing data. Assuming you're in the U.S. and, since we have no central registry for this information here, our sharing of results now will help others in the future.

  • Silentfaith
    Silentfaith Member Posts: 1
    edited October 2015

    Hi I just found this site. In feb. 2015 my sister was diognosed at age 67 with her second BC. Her first was age 42. Within a week I was diagnosed with Pappilary Thyroid Cancer age 63. And one week later my 40 year old daughter-in-law diognosed HER-2 BC. We all live close. I

    Had my Thyroid removed with no nessasary Iodine Radiation. My sister

    Had her second breast removed and started Chemo with same oncologist as my daughter in law. My daughter in law had double mastectomy with reconstruction after chemo a month ago

    And waiting for her second surgery in Nov

    to replace expanders with implants. Now my sister was suppose to start radiation

    When they discovered she had Pappilary thyroid cancer and had surgery last tuesday at Mayo Jax Fl . She will start breast radiation in 2 weeks. In the meantime they did dna testing on her. She is CHEK2 Positive and also ATM positive (which they know nothing about.

    Myself and my other two sisters were checked for CHEK2 only and all three are positive. Our 9 Children have just been tested and my youngest son 39 is Positive. We are waiting for the rest as they were done at different times. 4 should come back this next week. Its been a crazy ride so far. I have had counceling a mayo and am considering

    Billateral mastectomy with reconstruction.

    But they went ahead and did a mamagram

    Which they recomend every 6 months and a breast MRI, recomended yearly.

    There is so much to think about. They put my self and my other two sisters at 44%

    For breast cancer. While at mayo last week for my sisters Thyroid surgery, they

    Scanned another sisters thyroid as she has noticable noduals. Then she had a biopsy on thursday. She should know something on Monday. I will stay in touch.

    I keep wundering if the could sometimes be a dominant gene that could be in every generation. I will know more very soon

  • ditzy
    ditzy Member Posts: 8
    edited November 2015

    Hiya

    I have just joined this site as I wanted to talk to other ladies with the CHEK2 gene.

    I had breast cancer last year and because I was 3rd generation to have breast cancer, my mum died at age 27, I pushed to have genetic testing. My genetic counsellor was great. I tested negative for BRCA1, BRCA2 and TP53, but positive for CHEK2.

    I have had ultrasounds for thyroid, kidney, bladder and womb and will have a colonoscopy for my bowel. These are all areas that are at a higher risk of the cancer returning. I will have these yearly. I have 2 daughters and both of hem were tested, and thankfully both of them are clear..just me that's defected lol.

    I had a bilateral mastectomy with immediate recon as thankfully i didn't need chemo or radiotherapy, but now I'm worried I won't feel anything should the cancer return. I'm taking Tamoxifen and putting up with all those side effects lol.

    I'm trying to get my head round all this and would just like to know how other ladies have handled it.

    Thanks Ditzy xx


  • Moderators
    Moderators Member Posts: 25,912
    edited November 2015

    Hi Ditzy,

    Welcome and thanks for sharing your story! We're sure others will be by shortly to share their experience with testing positive for the CHEK2 mutation.

    We thought you may also want to check out the Bottle o' Tamoxifen thread where many, many others share their experiences with the drug, and discuss managing side effects.

    We hope this helps and look forward to hearing more from you!

    --The Mods

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