Chek2 positive

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Danurse213
Danurse213 Member Posts: 3
edited December 2021 in Genetic Testing

Hello. Was wondering if anyone who rested + for Chek 2 also did Braca testing or undergone any other type of testing? Also those who did the prophylactic mastectomy what were your reasons?

I have a implanted nerve stimulator and cannot do MRIs. So altho I do not have Cancer Was suggested I either take out stimulator So could do further testing OR do a mastectomy. He didn't give any other options.

(Also of noted concern he didn't know about doing implants over pectoral muscles. )

Did suggest talk to genetic counselor, see gynecologist to see where I am menopausal ( I'm 51 had hysterectomy but have ovaries) and talk to Oncologist.

Thanks!


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  • 1Greekmomma
    1Greekmomma Member Posts: 22
    edited September 2021

    Hey Danurse213,

    I did a full "cancer screen" genetic profile due to there being a lot of different cancers on my mom's side. Was found to have the chek2 mutation, specifically the I157T variant (which is the "lower risk" variant of the chek2 mutation). My panel also included BRCA, PALB2, and many other mutations, of which I do not have.

    My testing came after I was diagnosed with BC (age 40). Doctor was happy for me to just have a lumpectomy and radiation, but ended up with a mastectomy because the location of the tumor was in a place they could not get to to mark it, and then my tumor completely disappeared with neoadjuvant chemo. My oncologist did not seem too worried about the check2 mutation, but has added MRI to my yearly screening regimen.

    If you have the 1100delC variant, your risk of developing breast cancer is higher. Outcomes for women with a Chek2 mutation that also have breast cancer don't seem to be significantly different than BC patients without the mutation. Chek2 mutations also raise the risk of colon cancer (which also runs in my family) so if you haven't started getting regular colonoscopies, you need to.

    If I did not develop BC, I would not have a prophylactic mastectomy, but rather just monitor closely with MRI or CT. Unfortunately, my cancer was missed by mammogram and ultrasound and didn't cause any lumps until it reached my axillary lymph nodes.

    Keep in mind that most cancers do NOT have a mutation factor. There are people with mutations who never develop cancer, and there are people with no mutations who do.

    All the best!

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  • Monarchandthemilkweed
    Monarchandthemilkweed Member Posts: 176
    edited September 2021

    I am chek2 positive. I had a full panel prior to my diagnosis due to family history. It was the MRI that picked up my cancer. My sister is also chek2 positive but has ovarian cancer. If I were you I wouldn’t be comfortable unless I could get a mri/mammogram every 6 months. My other sister also has the chek2 gene and I want her to get a masectomy. The odds in my family are this. My siblings and I ALL have the chek2 gene. So that’s 4/4. And two of us (in our mid 40’s) already have cancer. I think chek2 is a very serious threat.

    We are not sure what parent gave us the gene but my father has multiple myeloma. I think overtime more ans more cancers will be linked to che

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  • Danurse213
    Danurse213 Member Posts: 3
    edited September 2021

    first if I want to thank you for taking the time to reply to me. I'm sorry you had to go through all of that. I did test due to my sister developing breast cancer. My mother did Chek2 test and neg so we know came from Dad's side. Maternal grandma had breast cancer and grandpa had Prostate. No other cancers on mom side we know of.

    My Aunt on Dad's side had Cervical cancer.

    I thought maybe more blood tests could be done see if any other gene's would behoove me.

    When my doc suggested what did we thought I could not get MRIs but now know I can.

    So his two suggestions werec1st one was prophylactic mastectomy due to family history. OR annual mammograms with MRI every 6 months AND take pill like Tamoxifen.

    Again to note he is a beast surgeon BUT did not know about doing implants over pectoral muscles. He was VERY surprised when I told him that's what my sister did. ( been with office since 2019 seen him twice once for biopsy)

    Where I'm at? I talk to genetic counselor Wednesday. Then I'll ask to talk with an oncologist and look around for another doctor for another opinion.

    I know I rambled on. Sorry. Thanks again for replying

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  • jennyjo20
    jennyjo20 Member Posts: 41
    edited December 2021

    Hi everyone,

    I don't know how I missed this post as I'm always looking to gather more info and connect with other people who have CHEK2. My brother and I both have the 1100delC variant. There has been a lot of cancer on both sides of my family but by process of elimination, I know that mine came from my dad's side. My mom and maternal grandmother both had breast cancer but my mom was negative for all known genetic variants. When I was diagnosed with breast cancer at 42, I mistakenly assumed my genetic testing wouldn't show any mutation since my mom's had not. I don't know very much about my dad's side of the family and hadn't considered that it might have come from that side. If I had known about my CHEK2 prior to diagnosis, I don't think I would have had prophylactic mastectomies, but I definitely would have added MRI to my annual screening.

    I found my own lump, which did not show on any mammogram, from my first one at 38 and including the one I was already scheduled for after feeling the lump at 42. I do have dense breasts and therefore insurance was required to cover an annual breast MRI, but regretfully I didn't get one until after I was diagnosed. The tumor showed on both ultrasound and MRI so I assume I could have caught it before lymph node involvement if I had been getting annual MRIs alternating with my mammos (like I do now). I had a lumpectomy and radiation but keep the option of a bilateral mastectomy in the future in mind. None of my doctors seem to have a strong opinion on whether that is necessary but all support that decision should I choose it in the future to prevent local recurrence or future new breast cancers. The only recommendation was that I wait at least two years from breast radiation so that my skin has fully recovered in order to reconstruct. I was told by my breast surgeon that I would be a candidate for nipple sparing mastectomy, so I think I will eventually go that route.

    As for screening based on my CHEK2 status: As mentioned, I alternate mammo with MRI every 6 months. I got my first colonoscopy at 42 after finding out I had CHEK2 and will do that every 5 years instead of 10. I also get an annual thyroid ultrasound to keep an eye on 2 stable sub-centimeter thyroid nodules that I have known about since 2016. I have a dermatologist look me over once a year as well. I agree with Monarch that more cancers will be linked to this mutation over time. I will come back to post anything new that I learn or that is recommended to me.

    Hang in there everyone! It sucks having a cancer predisposing variant, but I feel empowered by the knowledge. It allows me to be hyper vigilant and super motivated to live a healthy lifestyle.

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  • KBL
    KBL Member Posts: 2,521
    edited December 2021

    jennyjo20, although my daughter does not have known breast cancer at this time or any cancer, I too assumed since I had no genetic markers, she wouldn’t either. She decided to have genetic testing, and I was shocked that she had the Chek2 gene, not the same variant as yours. My brother and I both have breast cancer. His was diagnosed a year ago, and he was Stage IIIB. I was diagnosed de novo Stage IV. He has IDC, I have ILC. It makes me very nervous for my daughter because now she has this mutation on her Dad’s side. She has had genetic counseling and has a plan for screenings. She is only 32. I am sorry you found this out as well.

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  • jennyjo20
    jennyjo20 Member Posts: 41
    edited December 2021

    Hi KBL,

    It certainly makes you wonder about yet-to-be-identified genetic factors. While I'm very sorry that your daughter may find herself at increased risk, I'm glad she received this information prior to any diagnosis and hope that she NEVER receives one. Many people with a CHEK2 variant don't get cancer and probably live their whole lives without knowing they even have it. But I understand your concern about her having risk coming from both sides. That was the same situation for me as well.

    My own brother doesn't seem to be very concerned that he also carries this mutation (as well as 2 cases of breast cancer and 2 cases of pancreatic cancer on the non-CHEK (mom's) side). To my knowledge, only one of my cousins on the CHEK2 (dad's) side has bothered to get tested after we notified them of their risk. Of course, that is their right, but I would have LOVED to have that information prior to my own diagnosis. I hope your daughter will be able to use this knowledge to help protect her health through whatever means she and her care-team feel is appropriate. Sending wishes of health to you both.

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  • KBL
    KBL Member Posts: 2,521
    edited December 2021

    Thank you, Jennyjo20. I get that about family. I told my sister-in-law, my husband’s sister, and she hasn’t done anything with the information.

    My brother who found breast cancer had pulled a chest muscle and was feeling it one day and felt a lump. I think because of me, he was proactive and didn’t ignore it, thankfully. He was in the mammogram machine within a few days and got the diagnosis pretty quickly. It was 6cm already. They’ve never found the cancer in my breasts. It’s amazing because we didn’t have a lot of cancer in our family, so to have two of us is weird. I think some men feel they won’t. get breast cancer, but it’s real, especially with a mutation.

    I have a blood clotting disorder as well and didn’t know it with my pregnancy. To know I could have lost my daughter was scary. My daughter also inherited that disorder as well and had to do injections after she had her son. I just feel bad. I know it sucks I didn’t know all those years that I had the cancer, but at the same time, I’m kind of grateful I’ve only been thinking about it for three and a half instead of the over eight it’s been there.

    She was also a firefighter for ten years, so there is that risk as well in the future. My hope is that she catches a break and lives a long, healthy life.

    I thank you for sharing because it makes me know others with this gene mutation that I know nothing about.

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