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Topic: PALB2 mutation

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: Feb 6, 2019 11:34PM

Gigi-1 wrote:

Hi everyone. Just discovered I tested positive for the PALB2 mutation and was wondering how many others in the group have tested positive for this mutation and did it play a part in your treatment. Just had double mascetomy 1/22/19 and waiting to meet with the medical oncologist 2/27/19.TIA

Dx: 11/2018, IDC Left, 2.5cm stage 1 grade 2 0/3 nodes, ER+/PR+/, HER2 -

SX: 1/2019 Mastectomy: Left; Prophylactic mastectomy: Right; Reconstruction (left): Tissue expander placement; Reconstruction (right): Tissue expander placement

T2, No, Mo

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Feb 9, 2019 01:35PM - edited Feb 9, 2019 01:35PM by Desirr77

I tested positive for the palb2 mutation, I am from Germany. In Germany, a palb2 mutation does not play a part in treatment, but I paid my double mastectomy myself.

DX 2/2016 triple negative, 0,6cm G3 0/1 nodes

Dx 2/4/2016, IDC: Medullary, Right, <1cm, Stage IA, Grade 3, 0/1 nodes, ER-/PR-, HER2- Surgery 2/9/2016 Lumpectomy: Right; Lymph node removal: Right, Sentinel Chemotherapy 3/1/2016 Cytoxan (cyclophosphamide), Ellence (epirubicin), Taxol (paclitaxel) Surgery 9/28/2016 Prophylactic mastectomy: Left, Right; Reconstruction (left): Silicone implant; Reconstruction (right): Silicone implant
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Nov 21, 2019 06:40AM marciajo63 wrote:

I am in Oregon. I tested positive for PALB2, but do not want the mastectomy. I decided on chemo, radiation and tamoxifen. I am almost done with chemo and am currently negotiating with my doc about only having the one little lump left removed, rather than the entire breast. I understand that this position is not usual. Most high risk women choose the double mastectomy, and I respect their choice.

It is weird having such an unusual diagnosis, for sure.

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Nov 21, 2019 01:33PM Moderators wrote:

marciajo63, we welcome you to our community, and thank you for sharing your experiences. Indeed, each person has to find their own treatment path. It sounds like you're supported by the treatment team.

Glad you found us here Medicating

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