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Topic: Variants of Unknown Significance on Genetic Tests

Forum: High Risk for Breast Cancer — Due to family history, genetics, or other factors.

Posted on: Feb 24, 2016 03:36PM

Angtee15 wrote:

Hello! I ended up getting an inconclusive result on my Breast Next test. I have a variant of unknown significance on the PTEN gene. I know it's not an uncommon result but I am curious if anyone out there had these variants later classified as mutations? Also did this factor into your treatment plan? I've already settled on a bmx before my results and I can't help but feel this genetic "ambiguity" supports this decision.

Dx 11/9/2015, IDC, Left, 2cm, Stage IIA, Grade 3, 0/4 nodes, ER-/PR-, HER2- Chemotherapy 12/6/2015 Adriamycin (doxorubicin), Carboplatin (Paraplatin), Cytoxan (cyclophosphamide), Taxol (paclitaxel) Surgery 5/11/2016 Mastectomy: Left, Right; Reconstruction (left): Tissue expander placement; Reconstruction (right): Tissue expander placement
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May 24, 2018 05:48AM shycat wrote:

About four years after learning I had two VUSs I received a letter notifying me that my BARD1 VUS was now considered "likely benign".  That was nice.

I can only dream of getting the same letter for the ATM VUS since ATM mutation is also linked to pancreatic cancer.  At least at the time, I was the only reported case for my particular ATM variant, so it seems unlikely.

Shy

shy Dx 1/7/2014, IBC, Left, Stage IIIC, Grade 3, ER+/PR-, HER2- (FISH) Chemotherapy 1/16/2014 AC + T (Taxol) Surgery 6/2/2014 Mastectomy: Left, Right Hormonal Therapy 6/27/2014 Arimidex (anastrozole) Radiation Therapy 7/14/2014 Breast, Lymph nodes Hormonal Therapy 3/27/2015 Aromasin (exemestane)
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Apr 11, 2019 09:50PM iChan25 wrote:

Shycat - I too have a VUS in ATM. No family history of any cancer so my medical team is assuming it is probably benign and not to base any medical decisions based on this. However I am concerned that it might cause radiation sensitivity. I too have Stage III and will probably need radiation. Did you have any problem with rads

Dx 3/14/2019, IDC, Left, 5cm, Stage IIIA, Grade 3, ER-/PR-, HER2+ (FISH) Chemotherapy 4/2/2019 AC Targeted Therapy 5/28/2019 Perjeta (pertuzumab)
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Apr 12, 2019 09:00AM spratt5 wrote:

I was just told (age 42) I have a VUS with both BRCA 1 & Chek2 genes. No family history of breast cancer. BS & I decided on Bilateral Mastectomy in a few weeks even though I have just Left IDC.

Dx 3/5/2019, DCIS/IDC, Left, 2cm, Stage IIB, Grade 1, 1/1 nodes, ER+/PR+, HER2- (IHC) Surgery 5/14/2019 Lymph node removal: Sentinel; Mastectomy: Left, Right; Prophylactic mastectomy: Right; Reconstruction (left): Tissue expander placement; Reconstruction (right): Tissue expander placement
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Apr 12, 2019 07:43PM Rrobin0200 wrote:

my results yielded VUS as well. I chose the mastectomy route. Didnt want to take any chances.

Dx 3/6/2017, DCIS, Left, 1cm, Stage 0, Grade 3, 0/4 nodes, ER-/PR- Surgery 3/31/2017 Mastectomy: Left; Prophylactic mastectomy: Right; Reconstruction (left): Silicone implant; Reconstruction (right): Silicone implant
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Aug 8, 2019 01:34PM Meowmmy65 wrote:

I did testing a year and a half ago and had 3 VUS - 2 on the ATM gene. I had a lumpectomy, chemo, and radiation. This week, I was notified that one of the ATM VUS is now upgraded to clinically significant with a high cancer risk. Yup. I'm now higher risk for recurrence and at risk for pancreatic. That's a little scary.

Now, my 2 daughters, 5 siblings, and mom are getting genetic testing so that we can determine who else might have this and which line it came from. Dad died from bone cancer in 1985, so we can't test him.

So, I'm officially a mutant. Why can't I have a cool mutation, like Elasta-girl? Getting cancer is not a fun super-power.

A more aggressive monitoring schedule is now in the works, with a mammagram and breast mri annually.

Dx 8/31/2017, IDC, Right, 1cm, Stage IB, Grade 2, 0/3 nodes, ER+/PR+, HER2+ (FISH) Surgery 11/2/2017 Lumpectomy: Right; Lymph node removal: Sentinel Surgery 11/10/2017 Lumpectomy: Right Chemotherapy 12/7/2017 Carboplatin (Paraplatin), Taxotere (docetaxel) Targeted Therapy 12/7/2017 Herceptin (trastuzumab) Targeted Therapy 3/1/2018 Perjeta (pertuzumab) Radiation Therapy 6/11/2018 Whole-breast: Breast Hormonal Therapy 9/25/2018 Tamoxifen pills (Nolvadex, Apo-Tamox, Tamofen, Tamone)
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Aug 8, 2019 03:13PM SimoneRC wrote:

Hi Meowmmy65!

Sending a warm hello from a fellow ATM mutant! Sorry to welcome you to the Club. My family history and ATM mutation has led me to bilateral mastectomy, total hysterectomy and BSO. I also have an annual colonoscopy. My genetic counselor said the pancreas tends to be an issue only with ATM people who have family history. Keeping fingers crossed for that one as mine does not. My Deletion mutation covers 2 Exons so my family history is likely more active than the average ATM’er. I am treated at a major academic hospital. My family is currently the only ATM’ers there that have multiple issues going on. It tends to be a moderate risk gene for most. Make sure you are up to date on your colonoscopy as well.

Good luck to you and all of your relatives

ATM Gene Mutation, Deletion. IDC w/Lobular Features and Focal Mucinous Features. Pre Pectoral Reconstruction. Hysterectomy Surgery 4/6/2018 Mastectomy: Left, Right; Reconstruction (left): Tissue expander placement; Reconstruction (right): Tissue expander placement Hormonal Therapy 5/6/2018 Arimidex (anastrozole) Surgery 7/3/2018 Reconstruction (left): Silicone implant; Reconstruction (right): Silicone implant Surgery 4/30/2019 Reconstruction (left): Silicone implant; Reconstruction (right): Silicone implant Surgery 4/30/2019 Prophylactic ovary removal Surgery 8/6/2019 Reconstruction (left): Fat grafting; Reconstruction (right): Fat grafting

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