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Topic: Chek2 positive

Forum: Genetic Testing —

ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, NBN, NF1, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53, and mismatch repair genes (MLH1, MSH2, MSH6, PMS2, EPCAM)

Posted on: Sep 3, 2021 11:40AM

Danurse213 wrote:

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.


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Sep 3, 2021 12:53PM - edited Sep 4, 2021 02:41PM by 1Greekmomma

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!

Dx 1/2021, Right, 2cm, Stage IIB, 2/6 nodes, ER+/PR+, HER2- (IHC) Chemotherapy 2/1/2021 AC Dx 8/2021, DCIS, Right, Stage 0, Grade 2, 2/6 nodes, ER+/PR+, HER2- (IHC) Surgery 8/9/2021 Lymph node removal: Underarm/Axillary; Mastectomy: Right Radiation Therapy 9/22/2021
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Sep 3, 2021 07:32PM Monarchandthemilkweed wrote:

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

Sarah, Chek2 positive Dx 3/11/2021, IDC, Left, <1cm, Grade 2, 0/2 nodes, ER+/PR+, HER2- Surgery 5/9/2021 Lymph node removal: Sentinel; Mastectomy: Left, Right; Reconstruction (left): Tissue expander placement; Reconstruction (right): Tissue expander placement Chemotherapy 6/27/2021 Cytoxan (cyclophosphamide), Taxotere (docetaxel)
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Sep 12, 2021 08:27PM Danurse213 wrote:

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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