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Topic: Chek 2 Mutation

Forum: Positive Genetic Test Results —

BRCA 1 & 2, ATM, BARD1, CDH1, CHEK2, MRE11A, NBN, p53, PALB2, PTEN, RAD50, RECQL, and RINT1 genes

Posted on: Jul 11, 2019 04:45PM

smackan wrote:

For anyone that has a Chek2 mutation, were you recommended to have a mastectomy by your BS or RO? I just learned I have Chek2 c.470 T>C (pI157T). I am meeting with my BS and RO next week for pre-op appointments for a planned lumpectomy and oncoplastic reduction. No one has mentioned that I should change my plans or have a mastectomy since I received the results of the genetic testing.

Did you do any other screening for the other cancers that now have increased risks (colon, thyroid, ovarian, kidney)?

I would love to hear any thoughts as I am newly diagnosed with BC and now the Chek2 mutation.


Dx 5/21/2019, IDC, Left, 1cm, Stage IA, Grade 1, ER+/PR+, HER2- (IHC)
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Jul 12, 2019 03:32AM Moderators wrote:

Hi Smackan, welcome to BCO! We're sorry you find yourself here, but we hope you find this to be a warm and supportive place. We understand you're faced with quite a bit of uncertainty - it sounds like you have a plan in place, but perhaps discussing other options with your doctors is a good idea at your appointment. The more information you have, the better you're able to make an informed decision that you're comfortable with. Please keep us posted on how it goes!

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Jul 12, 2019 03:45AM Lindzfay wrote:

I had a right side mastectomy due to cancer and the left 3 months later after I found out about my chek2 mutation. I also am being screened for ovarian, thyroid, and colon cancer. We have the same mutation.

Dx 1/9/2019, DCIS, Right, 6cm+, Stage 0, Grade 3, ER+/PR- Surgery 1/29/2019 Lymph node removal: Sentinel; Mastectomy: Right Surgery 3/13/2019 Mastectomy: Left Surgery 3/23/2019 Reconstruction (left): Tissue expander placement; Reconstruction (right): Tissue expander placement Surgery 6/19/2019 Reconstruction (left): Silicone implant; Reconstruction (right): Silicone implant Surgery Reconstruction (left): Silicone implant; Reconstruction (right): Silicone implant
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Jul 12, 2019 03:47AM - edited Jul 12, 2019 03:47AM by Lindzfay

This Post was deleted by Lindzfay.
Dx 1/9/2019, DCIS, Right, 6cm+, Stage 0, Grade 3, ER+/PR- Surgery 1/29/2019 Lymph node removal: Sentinel; Mastectomy: Right Surgery 3/13/2019 Mastectomy: Left Surgery 3/23/2019 Reconstruction (left): Tissue expander placement; Reconstruction (right): Tissue expander placement Surgery 6/19/2019 Reconstruction (left): Silicone implant; Reconstruction (right): Silicone implant Surgery Reconstruction (left): Silicone implant; Reconstruction (right): Silicone implant
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Jul 12, 2019 04:07PM kber wrote:

My chek2 variant was of "uncertain significance" so it wasn't the only factor in my decision to have a BMX. Thrown into the mix - extremely dense breasts, triple negative status, strong family history, and the original cancer in my left breast was very aggressive. There was no "home run", but rather a preponderance of factors that led me to my decision. My MO strongly recommended I consider a BMX. My breast surgeon was somewhat neutral, but supportive generally.

Dx 11/2018, IDC, Left, 5cm, Stage IIB, ER-/PR-, HER2- Chemotherapy 12/6/2018 Adriamycin (doxorubicin), Carboplatin (Paraplatin), Cytoxan (cyclophosphamide), Taxol (paclitaxel) Surgery 5/27/2019 Mastectomy: Left; Prophylactic mastectomy: Right Radiation Therapy 7/16/2019 Whole-breast: Breast, Lymph nodes, Chest wall

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