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 22, 2015 02:16PM - edited Sep 23, 2015 11:15AM by moderators

Posted on: Sep 22, 2015 02:16PM - edited Sep 23, 2015 11:15AM 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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Apr 10, 2018 11:32PM Mockanaitis wrote:

What led you to doing the testing? I was diagnosed during annual mammogram process with a breast malignancy on March 7. (Stage I, ~1cm, Grade 1, ER/PR +, HER2-). When reviewing family history of cancer, it was determined that genetic testing would be prudent. Without typing in all the history, multiple uterine and breast cancers, bladder cancer, colon cancer on mother's side. My father's sister died from breast cancer and I think his father had prostate cancer.

What were your results, and what choices have you made based on the findings? I am both NBN and Lynch Syndrome (MSH6) positive. My doctors were pretty surprised to see two positive results. Apparently this doesn't happen very often. I have decided on first go to just have lumpectomy, radiation, and tamoxifen treatment. I am also removing my second ovary. I had already had a hysterectomy and one ovary removed due to severe endometriosis issues 6 years ago. I have scheduled my first colonoscopy at age 47. Urine tested clean, CA125 tested normal, other blood tests were normal.

Was payment an issue? Not yet, but I got a denial letter from insurance and have passed that on to the doctor office who has said they will follow up.

How have you discussed these decisions with your family? I shared my results with my 7 siblings and let them know that if they wish, they can test for them as well.

What suggestions would you have for others? I'm not sure.. this is all very new for me.

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Apr 14, 2018 01:17AM chocomousse wrote:

i don't know if this has been answered already but what is the difference between a cancer related gene and a gene variant? My 25 gene test came back negative but it did show that I had 3 ATM gene variants and 1 CDKN2A gene variant.

Dx 4/23/2015, DCIS, Right, 5cm, Stage 0, Grade 3, ER+/PR+ Dx 8/18/2015, IDC, Right, <1cm, Stage IA, Grade 3, 0/2 nodes, ER+/PR+, HER2+, Surgery 8/18/2015 Lymph node removal: Sentinel; Mastectomy: Right
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Apr 23, 2018 10:27AM - edited Jul 18, 2018 05:27PM by rphouse

This Post was deleted by rphouse.
Dx 3/2018, DCIS, Left, <1cm, Stage 0, Grade 2, ER+/PR+, HER2- Surgery 5/19/2018 Lumpectomy: Left Radiation Therapy 6/28/2018 Whole breast: Breast Hormonal Therapy Tamoxifen pills (Nolvadex, Apo-Tamox, Tamofen, Tamone)
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Nov 23, 2018 12:18PM MinnesotaBarb wrote:

I had lumpectomy, chemo, and radiation in 2010. In 2018, I redid genetic testing (now they test for 19 mutations versus 2) and found I have PALB2 mutation. I was told this could increase chance of recurrence or new breast cancer to as much as 50-60%, so I now opted for double mastectomy with reconstruction. Now I am worried about stirring up a recurrence because of the scar tissue from this recent procedure. Anyone else's thoughts or experiences? It would be helpful if people could indicate their genetic test results in their profiles as well.

I may be "glass is half empty" but I am a fighter with God's help. Dx 5/6/2010, IDC, Right, <1cm, Stage IA, Grade 2, 0/2 nodes, ER+/PR+, HER2- Surgery 5/20/2010 Lumpectomy: Right; Lymph node removal: Right, Sentinel Chemotherapy 6/2/2010 Cytoxan (cyclophosphamide), Taxotere (docetaxel) Radiation Therapy 10/15/2010 Breast Hormonal Therapy 1/3/2011 Arimidex (anastrozole)
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Nov 23, 2018 10:11PM Mominator wrote:


With the PALB2 mutation, yes, your chance of recurrence or new breast cancer is as much as 50-60%. Those are nasty odds, and a prophylactic BMX is very wise. 

If you are concerned about an increased chance of recurrence, you might want to read this thread about TORADOL (ketorolac) linked to Recurrence Prevention. 

"There has been ongoing research that is looking at the specific use of Torodal (ketorolac) in the perioperative (preincision) phase of breast surgery. The initial study was from Belgium. This study is known as the Forget study published in 2010. A particular isolated group of patients that had an unusually low rate of breast cancer recurrence. All had the same breast surgeon and one of two anesthesiologist. The anesthesiologists had a common approach to drugs used for surgery. Toradol was the common drug given intraoperative."

BCO member sas-schatzi is very knowledgeable in this area. 

Best wishes, Madelyn

Mominator, BRCA2+, STK-11 VUS. My Mom dx DCIS age 62, ILC stage IIIA age 79; Mom passed 2/28/18. My Grandmother died of ovarian cancer age 48. Friend to Lori M, passed 5/25/16. Surgery 11/11/2015 Prophylactic mastectomy: Left, Right; Prophylactic ovary removal; Reconstruction (left): Tissue expander placement; Reconstruction (right): Tissue expander placement Surgery 1/18/2016 Reconstruction (left): Silicone implant; Reconstruction (right): Silicone implant Surgery 6/30/2017 Reconstruction (left): Silicone implant
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Nov 24, 2018 07:21AM rah2464 wrote:

After I was diagnosed and trying to decide whether to have a single or bilateral mastectomy, my breast surgeon suggested genetic counseling. The thought was to help me determine if I had a significantly higher risk of cancer occurring in my healthy breast.

I decided to be tested simply because it felt like my generation in my family was beginning to be at risk for breast cancer and I hoped to be able to understand why. I was diagnosed at age 54, the same age as a sister, and slightly older than twin cousins who developed breast cancer in their 40's. As a family we have a lot of types of cancer, but no one until my generation had cancer in the breast. Colon cancer, prostate cancer, lung cancer, melanoma, all on Mother's side of the family. But no breast, ovarian, or uterine cancers to be found.

My insurance did eventually cover the cost of the testing, but only after it was submitted more than once. I had both a 16 panel test for breast cancer mutations (all negative) and went ahead all in for the 80 panel test that looks for risk for other types of cancer. I did this in order to try and unlock risk profiles for the rest of my family.

And I did so knowing that risk findings could preclude me from purchasing some care policies such as life insurance. I signed paperwork acknowledging that I already had those policies in place.

The only known genetic risk for cancer was a mutation for colon polyps. Muty something. But we have recently found out that we are of Scandinavian descent so perhaps that relates to the information in one of the prior postings about some risk there. If nothing else, I feel like perhaps I have added some data that will help us point to unknown genetic mutations that increase our risk profile. The overall result from my counseling, based on known factors, was that our risk was familiar, not gene specific.

I am glad I submitted for the testing because I feel information is power in battling this disease.

Dx 5/23/2018, IDC, Left, 1cm, Stage IA, Grade 2, 0/4 nodes, ER+/PR+, HER2- Surgery 6/27/2018 Mastectomy; Mastectomy (Left); Mastectomy (Right); Reconstruction (Left): Silicone implant; Reconstruction (Right): Silicone implant Hormonal Therapy 7/27/2018 Tamoxifen pills (Nolvadex, Apo-Tamox, Tamofen, Tamone)
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Nov 24, 2018 04:19PM - edited Nov 28, 2019 12:00AM by simonerc

Mostly copied from another post:

I originally went for genetic counseling in my early/mid 30's due to dense breast tissue, fibrocystic breasts and family history. Was advised that since family history seemed to be post menopausal and there were no protections for insurance/employment at that time I should not be tested and continue with my annual mammograms which were started early.

Flash forward to age 51 when I was diagnosed with breast cancer. When meeting with breast surgeon team and relaying family history, small family, mom breast cancer, her sister lung cancer, her brother bladder cancer and multiple myeloma, her niece (my cousin) Hodgkin's Lymphoma, my sister colorectal cancer, my dad's mother, grandmother and aunt breast cancer, my dad's nephew (my cousin) glioblastoma they absolutely recommend testing.

Was covered by insurance. Invitae charged $1500. Insurance paid them $825. I paid nothing as I already met out of pocket maximum.

Came back positive for pathogenic ATM mutation. Given the risk of radiation toxicity, cancer in other breast, and lobular features of my cancer I chose bilateral mastectomy with prepectoral reconstruction/silicone implants and Anastrazole.

I always assumed I would get breast cancer. Just not this young. Was planning for 70's... Was really disappointed when I went for my 4th colonoscopy last month. Previous ones have been clear or just a few polyps but this one had 15 polyps, 4 of which were precancerous. Now will do annual colonoscopies vs. every three years. They say I have Serrated Polyposis Syndrome. Edited to add... 35 polyps on this year’s colonoscopy.

My mom tested negative for mutation so it is from paternal side. My sister's kids will get tested at some point. They are in their 20's. My father had one sibling, a sister, who had a prophylactic mastectomy when her mother was diagnosed. She knows about the ATM status. Hopefully she will let her two surviving children know. They are quite a bit younger, early 40's I think. My father's mother had one brother and have let his three kids know.

My cancer never showed up on 3D mammograms. It also did not feel sinister to any of the doctors who felt it. Listen to your body. Knowledge is power. I would rather know and be vigilant, and have a better shot at a long life!

Had genetic counseling at Johns Hopkins in September. Was interested to know what the "other" cancers aside from breast, colon, pancreatic and prostate cancer seem to be associated with the ATM mutation. Also how our outcomes, metastatic rates, etc... compare.

Editing to add..... After new research shows link with increased risk of ovarian cancer, my MO and Genetic Oncologist recommend removal of ovaries and tubes. I will be doing that Spring of 2019.

Edited to add.... BSO turned into Total Hysterectomy with BSO. My sister had her surgery first and she wound up having uterine cancer.

Would love to hear from other ATM'ers!

Best of luck to all of us!

ATM Gene Mutation, Deletion. IDC w/Lobular Features and Focal Mucinous Features. Pre Pectoral Reconstruction. Hysterectomy
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Nov 25, 2018 08:58AM - edited Nov 25, 2018 09:03AM by star2017

My mother had postmenopausal breast cancer, early stage. Then five years later she developed an unrelated stomach cancer. When that happened, doctors recommended genetic testing, but she didn't have it done. Then I was diagnosed last year, too young to be getting annual mammograms, and did the bloodwork. Because of the cancer diagnosis and history, the test was covered by insurance.

I found out the night before my mastectomy that I was BRCA2+. I was pregnant and completely broke down from distress. Doctors felt I should not decide about the prophylactic surgery in that state, so I did the single mx, had a csection, chemo, prophylactic mx, radiation, and most recently the prophylactic BSO.

My mother has since tested positive for the same gene. One of my siblings had the testing done and is thankfully negative. We believe the gene is from my mother's paternal side, based on the higher incidences of cancer on that side, tho we don't know for sure.

I hope that cancer is behind me but I know I am still at higher risk for pancreatic and colon cancers and who knows what else. Praying and trying to be healthier and stay positive.

Best wishes to all of you.

CURRENT: Stage IV since 2020, bone mets to rt hip, sacrum, femur, all treated with radiation. Taking Lynparza daily. Dx 9/2017, DCIS/IDC, Right, 6cm+, Stage IIIA, Grade 3, 4/8 nodes, ER+/PR+, HER2- Surgery 10/17/2017 Mastectomy; Mastectomy (Right); Reconstruction (Right): Tissue Expander Chemotherapy 11/29/2017 AC + T (Taxol) Surgery 4/18/2018 Prophylactic mastectomy; Prophylactic mastectomy (Left); Reconstruction (Left): Tissue Expander; Reconstruction (Right): Silicone implant Radiation Therapy 5/21/2018 Whole breast: Breast, Lymph nodes Surgery 10/24/2018 Reconstruction (Left): Silicone implant Hormonal Therapy 6/19/2019 Arimidex (anastrozole) Dx 5/2021, IDC, Right, 6cm+, Stage IV, metastasized to bone, ER+/PR+, HER2- Targeted Therapy Verzenio Radiation Therapy External Hormonal Therapy Faslodex (fulvestrant) Local Metastases Radiation therapy: Bone
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Dec 5, 2018 09:20PM murfy wrote:

I had done 23&Me several years ago. I learned that one can download their raw DNA from that site. You have to check a permission form and it takes them from a few minutes to a few hours to get your data ready to download. They will notify you when it is ready. Only takes a couple of minutes to automatically download onto your desktop in a zip file. Once done, you can upload that raw data file into and they will do a full analysis of your DNA and give you a complete health report. You can search all the breast cancer genes and look on your report to see if you have the mutations. I looked up all the usual culprits: BRCA 1/2, HER1/2, FGFR2, ATM, Bard1, CDH1, Chek2, NBN, NF1, PTEN, RAD51D, STK11, TNRC9, MAP3K1, LSP1, BRIP1, H19, TP53, and PALB2.

Apparently one can obtain their raw data from Ancestry and other sites and also upload onto Promethease. In March, Promethease lets you upload and get a report for free. But I think it otherwise costs about $20.

I discovered that I have several mutations of my FGFR2 gene that cumulatively put me at high risk for BC and some other diseases as well.

Knowledge is power!

Dx at 62: Oncotype=52; Path (ER=99%, PR=0%, Ki67=55%) Dx 10/2017, DCIS/IDC, Left, 1cm, Stage IA, Grade 3, 0/5 nodes, ER+/PR-, HER2- Surgery 11/14/2017 Mastectomy; Mastectomy (Left) Chemotherapy 12/1/2018 Cytoxan (cyclophosphamide), Taxotere (docetaxel) Hormonal Therapy Aromasin (exemestane)
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Dec 10, 2018 02:27AM Rav wrote:

I had done 23&Me several years ago but besides learning about ancestry I didn’t pay too much attention to it.

After my cancer diagnosis last November I returned to check my 23&Me reports and learned I’m BRCA 1 and BRCA 2 negative.

I ordered the Promethease Report and I am still trying to understand and process the information contained there

Dx DCIS/IDC, Stage IB, Grade 1, ER+, HER2-

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