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