Share your story of Genetic Testing
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Hi!
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
Silvia
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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.
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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.
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I wrote about being tested on page 4 (Sept of 2020). I am very glad I was tested.
As I stated, getting breast cancer isn't only about defective genes. I was diagnosed for a third time in Aug 2022, this time with IDC and DCIS in my right breast, the same breast I was denied a prophylactic mastectomy because I wasn't BRCA positive!!!!
Whenever possible, genetic testing should be done in combination with genetic counseling! Even though my tests didn't show any defects in the 54 genes tested, the counseling was priceless! My counselor had so much information to share! There is no way to replicate what a genetic counselor can do for cancer patients! Genetic counselors are as much, if not more, a part of understanding one's cancer than the gene results are!
I highly recommend genetic counseling, especially for those with strong family histories or those who have had multiple cancers! You don't have to commit to genetic testing to have the counseling!
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I am 67 years old and diagnosed with metastatic breast cancer in March, 2023. I was originally diagnosed with stage 0 encapsulated papillary in left breast in Feb. 2019. I had a double mastectomy in 2019 due to family history. I had Invitae genetic testing done in 2019 that came up with RAD 50 and two other VUS. My new MO ordered genetic testing with Myriad and it came up with NO mutations. He had them double check and said Invitae were false positive tests. How on earth can this be?
Here' s my family: Great Maternal Grandmother - died of B.C. in 1960
Maternal Grandmother - died of B.C. in 1992
Mother - died of B.C. in 1994
Mother's Maternal First Cousin - died of B.C. in 2010
Mother's Maternal Second Cousin - died of B. C. in 2016
All were postmenopausal, no one had genetic testing done other than myself. Both tests were covered by insurance and I do not regret testing regardless of the outcome. I have a daughter and granddaughter to think about.
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I was diagnosed 4 years ago with "Shrinking Breast Syndrome" . They did a biopsy, which was positive for lobular breast cancer. I was 56 years old. My mother had breast cancer in the early 80's and she lost her life at 49 years old. She was the first woman to have had a bone marrow transplant as part of a research project in the U.S. I also learned that my maternal Grandmother had a double mastectomy from breast cancer when she was in her 40's. We all had cleft lips as well. No one else in our family had breast cancer, including my mothers 5 sisters. In the mess of my diagnosis, I was offered genetic testing. Thinking the BRAC1/2 genetic mutation would be a real possibility, I agreed. Well, to everyones surprise, mine tested positive for a rare CDH1 genetic mutation. It was a double whammy because of the risk for Gastric cancer on top of the breast cancer. After I finished my treatment, including chemo, radiation, mastectomy with 14 out of 18 positive lymph nodes and then a DEIP flap reconstruction, the choice of whether to have a propholactic gastrectomy was brought up. UGH! No one had been diagnosed with gastric cancer in my family, so I assumed maybe we had a mutation that was partial and gastric cancer wasn't a part of it. My first endoscopy proved otherwise. I had signet ring gastric cancer. An immediate gastrectomy was performed. I don't reccomend this to anyone. It was by far the most difficult surgery to date for me. Unfortunately, the pathology of the fluid came back very quickly as positive for cancer cells so they thought the stomach cancer had metastasized. More in depth pathology of the lymph nodes revealed this was all breast cancer in the lymph nodes, not gastric cancer. So I have metastatic breast cancer, and the gastric cancer was all removed. So we like to say, I got the best, worst news ever! My life expectancy went way up. The general consensus is my mother and my grandmother also had CDH1 because there is also a high incidence of cleft lip/palate with this as well. And looking back at the way the cancer spread in my mother, it probably was undiagnosed gastric cancer. No biopsy was done and they just assumed it was breast cancer that had metastasized. I believe that genetic testing helped at least prolong my life. Gastric cancer is much more rapid to spread and there are less treatment options for it. Both of my daughters, as well as my niece have been tested, and all have come back negative for CDH1 or the BRAC genes. The one good thing out of all of this. 🙏
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@merkyrae Thank you for sharing your experience! Someone is going to read this and it will be exactly the encouragement and comfort they need, I just know it. I’m sorry for all you had to go through these past few years and are going through. What a relief about your daughters and niece!
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