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Topic: Brca2 VUS

Forum: Positive Genetic Test Results —

BRCA 1 & 2, ATM, BARD1, CDH1, CHEK2, MRE11A, NBN, p53, PALB2, PTEN, RAD50, RECQL, RINT1, and possibly MSH6 and PMS2 genes

Posted on: Oct 27, 2019 06:45PM

petyab wrote:

Hi there - I am 38. My mom had BC when she was 59 (er/pr positive her2neu negative). Her paternal cousin had same type of BC at age 50.

I recently had the 36 gene panel test through Ambry Genetics. BRCA2 came back variant of unknown significance.

I called Myriad (now Invitae). They shared their database shows two other individuals had this same VUS. One indicated they had a personal history of BC. One did not answer.

I am extraordinarily anxious and terrifie. Any advice?

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Oct 29, 2019 08:35PM - edited Oct 29, 2019 08:35PM by star2017

do you have access to a genetic counselor?



Dx@37, pregnant, BRCA2+ Dx 9/2017, DCIS/IDC, Right, 6cm+, Stage IIIA, Grade 3, 4/8 nodes, ER+/PR+, HER2- Surgery 10/16/2017 Mastectomy: Right; Reconstruction (right): Tissue expander placement Chemotherapy 11/28/2017 AC + T (Taxol) Surgery 4/17/2018 Prophylactic mastectomy: Left; Reconstruction (left): Tissue expander placement; Reconstruction (right): Silicone implant Radiation Therapy 5/21/2018 Whole-breast: Breast, Lymph nodes Surgery 10/24/2018 Prophylactic ovary removal; Reconstruction (left): Silicone implant Hormonal Therapy Tamoxifen pills (Nolvadex, Apo-Tamox, Tamofen, Tamone)
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Oct 29, 2019 09:15PM SimoneRC wrote:

I second meeting with a genetic counselor and/or genetic oncologist. If you have access to a National Cancer Institute Hospital that would be my recommendation.

On a side note, I believe that Myriad and Invitae remain separate, individual companies.


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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Oct 29, 2019 09:59PM april1964 wrote:

I tested positive for that but I never saw a genetic counselor... I tried to look it up but I don’t think that much is known...

oncotype 18 Dx LCIS/DCIS/IDC, Right, 1cm, Stage IA, Grade 2, 0/3 nodes, ER+/PR+, HER2-
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Oct 29, 2019 10:02PM - edited Oct 30, 2019 06:52AM by april1964

This Post was deleted by april1964.
oncotype 18 Dx LCIS/DCIS/IDC, Right, 1cm, Stage IA, Grade 2, 0/3 nodes, ER+/PR+, HER2-
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Oct 29, 2019 10:29PM vlnrph wrote:

For our original poster, are either your mom (most likely a post-menopausal diagnosis) or the cousin available for testing? It appears that you are not actually a BC patient yourself.

If someone allowed your sample to be analyzed without having you initially consult with a genetic counselor they were irresponsible, in my opinion, by subjecting you to this kind of anxiety. Despite having a first degree relative with cancer, that is not a strong family history. Perhaps there are other risk factors which you haven’t shared.

IDC too! 🎻💊👪🐩 🇫🇮 🌹🦋 Rt MX+DIEP 4-2011; ALND 5-2011 d/t micromets; TC X 4; tamoxifen; lymphedema 9-2011; switch to letrozole 3-2014 for 1 yr; bone mets 8-2018: Zometa, rads to spine, Faslodex/Versenio Dx 3/7/2011, ILC, 2cm, Stage IIA, Grade 2, 1/25 nodes, ER+/PR+, HER2-

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