Topic: Share your story of Genetic Testing

Forum: Genetic Testing — ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, NBN, NF1, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53, mismatch repair genes (MLH1, MSH2, MSH6, PMS2, EPCAM), and VUS (variants of unknown significance)

Posted on: Sep 23, 2015 06:16AM - edited Sep 24, 2015 03:15AM by moderators

Posted on: Sep 23, 2015 06:16AM - edited Sep 24, 2015 03:15AM by moderators

moderators wrote:

Dear Members,

Would you be willing to share your story about genetic testing? (no pressure, only if you are inspired!)

We are interested in the following questions: What led you to doing the testing? What were your results, and what choices have you made based on the findings? Was payment an issue? How have you discussed these decisions with your family? What suggestions would you have for others?

Please share your story here, or send us a Private Message. We will be posting your stories here Community Members share their Stories, in order to inspire other visitors to our site who are in a similar situation. If you chose to submit your story, would you please send a photo with it?

Many, many thanks!

The Mods

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Sep 21, 2022 09:58PM silviatrvz wrote:


My name is Silvia , I'm 28 years old and I was diagnosed with breast cancer HER2+ stage 2 grade 3 Ki67 30% in March 2022.

I'm now under treatment with neoadjuvant chemotherapy and my surgery will schedule in October 2022.

I was diagnosed with ATM gene mutation.

Before the genetic test result with my oncologist and surgeon we talked about lumpectomy and radiation, but now due to the genetic results, they suggested to going through certainly unilateral mastectomy (right breast) and to thinking about bilateral prophylactic mastectomy.

I'd like to know is there someone else with breast cancer with mutated ATM that has chosen lumpectomy+radiotherapy, unilateral mastectomy or bilateral prophylactic mastectomy? What did you choose and what did they recommended?

Therefore I wanna know what kind of follow up they proposedto you? Ultrasound or MRI? Every six months or once a year?

I need some advices and sharing information for a better choice.

Thanks so much


Chemotherapy 4/19/2022 AC + T (Taxol)
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Sep 29, 2022 02:45PM k-gobby wrote:

I saw my genetic doctor yesterday after a year. I told him thank you. I received genetic testing at the City of Hope. A research hospital that needs testing to get enough people to find treatments that work. I consented and found out I have BRCA2.

Based on the size of my tumor, 5.2 and small breasts,a mastectomy was on the table before the test. I appreciated my surgeon. She drew out my choices and treatments before the test.

After the test, the MO talked with me. Mastectomy was best. Chemo for 13 rounds shrunk the tumor 1/2. I had the mastectomy and was going to get radiation after.

The radiation oncologist said my cancer is in 2% of the population. Having radiation with possible side effects may cause more harm than the 2% life extension I may get. So, another month went by and I end up with a blood clot. Yes, I am removing the right side too. No cancer yet, but BRCA2 and Her2+ in my left breast, tell me to let the right girl go. I have had the expander in since Feb 9 and I have not ever thought, I wish I did not do it. For me, it will increase my chances to live.

We have choices. The results no. But the best choice for us, right now.

Chemotherapy 8/14/2021 Other Surgery 2/1/2022 Lymph node removal (Left): Sentinel; Mastectomy (Left): Skin Sparing; Reconstruction (Left): Tissue Expander Targeted Therapy 2/1/2022 Talzenna (talazoparib) Targeted Therapy 2/1/2022 Perjeta (pertuzumab)
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Oct 22, 2022 02:35AM prepmom wrote:

In 2019 I was diagnosed with DCIS and LCIS in the left breast at the age of 50. Due to family history - my mom was also diagnosed with BC pre-menopausal, I decided to have a BMX. My mom and I both had genetic testing - no known mutations. My dad was also tested as his sister died of BC (pre-menopausal too). I thought that we were just unlucky - my mom was thriving at the age of 75.

Fast forward to March 2021, my mom had been having vague abdominal pain for about a year. Always an advocate for her heath, she went from doctor to doctor and had test after test (although never a CA125 or MRI). They couldn't find anything. And then in March she got violently ill, I had to take her to the ER- she was diagnosed with a small bowel obstruction which required emergent surgery and resulted in an iliostomy and a diagnosis of advanced ovarian cancer. She was treated at a NIH cancer center, but we lost my dear mother at the age of 77 in April- just a year later. Her cancer was platinum resistant. It has been devestating.

I have seen a multitude of doctors since. My son is in medical school and very generously a few of his pathologst instructors have looked at my mom's pathology. Everyone agrees that I need to have a hysterectomy asap. More importantly, each doctor has said that they believe that we do indeed carry a mutation that is not yet known. (We are ashkenaski Jewish, my mother's sister had colon cancer, her aunt died from BC, and her grandfather had prostrate cancer.) I am scheduled for surgery in a month.

I am posting because I am a bit obsessed with this mystery. Is there anyone else with a similar family history without mutations? I would love to participate in any study that can lead to answers. I know that there may not be one (at least not yet), but if I can spare just one family.

Dx 5/24/2019, LCIS/DCIS, Left, <1cm, Stage 0, Grade 2, 0/5 nodes, ER+/PR+ Surgery 8/14/2019 Mastectomy; Mastectomy (Left); Prophylactic mastectomy; Prophylactic mastectomy (Right); Reconstruction (Left): Tissue Expander; Reconstruction (Right): Tissue Expander Surgery 11/4/2019 Reconstruction (Left): Silicone implant; Reconstruction (Right): Silicone implant

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