Share your story of Genetic Testing
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I was diagnosed with high-grade DCIS this year at age 40 (as a result of my first screening mammogram). I underwent a lumpectomy in September and radiation through the month of October.
I chose to have genetic testing for several reasons. I am relatively young for a DCIS diagnosis. I had been treated for a rare skin cancer (microcystic adnexal carcinoma) at age 35 and my mother had been treated for a sebaceous gland tumor (sometimes associated with Lynch syndrome). I have no family history of breast or ovarian cancers, but there are very few women in my family - other than my mom and two living grandmothers, I have only one aunt and one great aunt.
I tested positive for the RAD50 genetic mutation - a moderate risk mutation for breast and ovarian cancers. The genetic counselor advised that there were no specific recommendations based on my genetic results, but I chose to have my ovaries and tubes removed.
Testing was paid for by my insurance. I’ve notified my brother and cousins. My daughter is 8, so she has some time before testing is called for. I’m hoping they will have better recommendations for RAD50 by that time.
Truth be told, I’m still reeling from the events of the past six months. I’m terrified of what surgical menopause will bring in the coming months and years, but equally terrified of a recurrence or new cancer. I’m not sure that I did the right thing by removing my ovaries, but I don’t know if I could have lived with the uncertainty when there are no good screening options for ovarian cancer.
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anotherjennifer, thank you for sharing your experience! Living with the uncertainty is very difficult. We all understand, and are here for you.
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Summer. So sorry to hear about this situation of the double mastectomy. Wow. Now I know that that takes care of the breast cancer, but does that take care of the pancreatic cancer? What do you do about that? My daughter just got married in July and tested positive for the ATM. We have a lot of BC in the family. Thoughts? Is the ATM gene a "death sentence"? Any help or thoughts on what you have found out would be appreciated. Thank you. Marilyn
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Hi Marilyn,
I hope you don't mind if I chime in here. I tested positive for the ATM variant. From what I have researched, it appears that the greatest significance at this time is the ATM mutation. Not sure what your daughter's result was, but the mutation is said to raise risks for breast, and pancreatic cancer. Also, radiation exposure seems to increase risks even more for someone with ATM mutation. In my case, it is not yet known if the same risks apply. You're daughter may want to look into registering with PROMPT. There they gather information from those who have genetically tested positive and accumulate their diagnosis information to determine what significance applies to their specific genetic marker. You can google PROMPT if you're interested. Prayers for your daughter :0
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Any other CHEK2 folks out there? I just received some interesting news.
I was diagnosed at age 48 with ductal cancer in my left breast, ER/PR+ and HER2-. I have dense breasts, and my mammogram missed the cancer. I found it myself doing a self-exam--I noticed dimpling when I lifted my arms above my head. 2.3 cm, negative nodes. I have an extensive cancer history on my father's side; we have long suspected some kind of hereditary cancer, but didn't think it was BRCA, because no one has ever had ovarian cancer. However, lots of breast (2 aunts, 2 great-aunts), colon (aunt and uncle), prostate (2 cousins), kidney (uncle, cousin), and a smattering of others (dad had laryngeal). I was the third generation of women to be diagnosed with breast cancer in our 40s.
I had BRCA testing right away, to decide whether to have a double mastectomy or not. (Because of the location and size of my tumor, plus a family history of cardiac disease, I was advised by several surgeons to have a mastectomy rather than a lumpectomy.) My insurance covered the testing, and it was negative. So I proceeded with the single mastectomy, and because of my low Oncotype DX score, avoided radiation and chemo.
I later read about the expanded gene panels, and that Color Genomics was of good quality and offered an inexpensive multi-gene assay. I had that done, and all of the genes were negative for mutations, except one: CHEK2. I had a mutation "of unknown significance," not the one most commonly associated with breast cancer.
That was two years ago. Last week, I received an email from Color asking me to speak to a genetics counselor because my results had been updated. They have now changed my mutation to "likely pathogenic," and that has made my sons and siblings eligible for the family testing program (only $50!). Most are getting tested, because of the low cost. However, I am still not sure how high risk this mutation is. There is not a ton of supporting evidence in the research literature. It was the gene I always suspected, because it so closely matches our family history. However, this result does have the potential for changing our screening schedule. I will get colonoscopies every 5 years, and consider MRI or ultrasound for screening my healthy breast. My sons will want to consult with their doctor about the implications for prostate cancer screening. Anyone with a daughter who has the mutation will want them tested also, I think.
Even though I and my sibs have always believed we had a hereditary multi-cancer history, it still is strange having an actual mutation and gene identified. I am glad I got the testing, and I believe I will probably learn more in the future about my mutation as more research occurs.
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Jan 2018. Age 64 female. Found Chek2 mutation thru DNA testing. My mother at age 83 died of breast cancer and my grandmother age 75. My Aunt age 70. All on my mothers side of the family. Who do I talk to now? What do I do from here?
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I found a lump by accident before Christmas. When the biopsy came back as positive, the surgeon wanted me to get genetic testing because I am a very fit person with a history of rare health issues: I had pregnancy-associated osteoporosis and bone marrow edema syndrome with my second pregnancy and was in terrible pain. It was so rare at the time (2001) that I found very little info online. Then at 41 I had a heart attack due to coronary vasospasms that are idiopathic. The spasms started when I was 30 but doctors always assumed it was esophagus spasm, so it wasn't diagnosed until a spasm was strong enough to trigger a heart attack. My genetic testing came back with ATM gene mutation of unknown significance, so once again I feel like a medical outlier with few people to talk to. I had a lumpectomy and will meet with geneticist to try and suss this out and see if my daughters need to be tested. Cancer on my mom's side with her father and brother. Her brother had Hodgkins at 24 and died at 48 of soft cell sarcoma which the doctors thought was due to the radiation he received the first time around. My mother was diagnosed with Parkinson's at 55 and is now in the late stages of it at 75 and her uncle had it as well. So, I think the whole longevity/clean living thing is a crapshoot.
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Wow! It sounds like you have been through a lot of rare medical issues. Sorry you've had such a tough journey. Do you have a copy of your genetic test results? I am curious about ATM mutation vus. I thought that there was the mutation and then there was the variation or vus. There's so much confusion with ATM that it makes it very difficult for people to understand what is what. I have always read that the mutation is what puts you at increased risk and the variant or vus is unknown at this time. If I were you, I would seek clarity as to whether you have the mutation or the variant. Please keep us all posted and you will be in my prayers.
I have edited this post to add an informative webinar through PROMPT that discusses many of the genetic tests and how theyimpact us. You may have to register with prompt first to view it. I’m not sure as I am already registered and it went right through. Hope it helps 😊
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Very recently diagnosed with breast cancer. Tested positive for ATM with VUS. My mom died from breast cancer in 1975; a horrible, painful death. She was only 41 when she died. It's very humbling to realize that my opportunity to live a normal lifespan is based entirely on women like my mother who, when faced with a terminal diagnosis, chose to become research subjects. Thanks to all of them!
My concerns specifically with the ATM gene mutation is the lack of information. I would love to see more data on the recurrence/second cancer percentages, but they just aren't there. Some info on the sensitivity to radiation is available, but that's skimpy and older than I would like to see. There is little to no information on treatment strategies other than bilateral mastectomy. The BRCA studies also have some limited information on second cancers, but there is none for ATM, other than the elevated risk for pancreatic cancer. How much is "elevated risk"? The definitions for "high" and "elevated" risks are not ever shown in numbers, but when you're trying to evaluate risk, it would be good to have a number to tie it to. High Risk is considered a family history...well, that's good as far as it goes. Does High Risk mean there's an 80% risk? A 20% risk? There are some studies that are attempting to clarify this into statistics, but I don't have a biochemistry degree and the studies are very technical...I don't understand what I'm reading.
So, here I am. The only surgery I have ever had was having my wisdom teeth out. And now I'm less than 2 weeks away from a bilateral mastectomy and absolutely no idea why this has to be such a drastic surgery. I understand (and don't disagree) with the rationale of my surgeon--he is basing his recommendation on the BRCA mutation data because there's nothing else available. But wow. I am a very large busted woman; so this is not just a little tissue removal for me. It's literally half of my front upper torso. All for a little bitty 4mm tumor (that's the size of a BB).
How can those of us who carry the more rare genetic mutations make decisions with no available information? My genetics counselor is wonderful, and she's given me all the information she can--which isn't much. I'm high risk for getting it a first time as well as recurrence, unless I do the bilateral mastectomy.
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Hoping4best-
Thank you so much for sharing your story. You're absolutely right, it's hard to know what to do when you don't have very much information to go off of! We hope your surgery goes well, and we'll all be here to support you in the coming weeks and months.
The Mods
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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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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.
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I've been tested but am waiting on results. To be honest, I am freaking out! I am 40 years old and was diagnosed DCIS grade 2 stage 0. My mother had DCIS and lumpectomy at age 49. Because of my younger age and my mom's BC, I was referred to genetic counselor. The crazy part is that for Christmas I got a DNA Ancestry test. The results came back that I was 47% European Jewish and in researching my diagnosis and genetic testing I discovered that alone increase my risk of being BRCA1/2 +. I was shocked to be European Jewish and had a small doubt that this could even be accurate. I am putting the rest of this out here because everyone on here always seems supportive, and honestly I feel like I can't to anyone about this. The ancestry DNA test shows matches to people who have already done the test and who you may be related to. I had a match to a potential first cousin, who clearly based on family names, came from Jewish decent. When I looked up this person on facebook I discovered that their Mom had died of BC a few years ago. I was shocked, bewildered, confused, curious as to what all this meant to me and my family history. My dad passed away when I was six, and I wasn't quite sure how to bring this up to my mom. I finally asked her this weekend, and she reluctantly admitted that I was conceived with donor sperm. On his death bed, My dad had asked her to promise him that she would never tell me he wasn't my biological father;and she had wanted to keep that promise to him. I can completely understand her reasoning and am not upset by her decision up until the point where I asked her to help me fill out the family history prior to my genetic counseling appointment. So many emotions to add on top of my fear and anxiety over the initial BC diagnosis. I am trying to be very considerate and understanding of my Mom's situation as I know this has been very difficult for her too, so I'm certainly not looking for criticism of her decisions/actions. Just needed to get this off my chest.
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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.
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MinnesotaBarb,
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."
https://community.breastcancer.org/forum/73/topics/833612
BCO member sas-schatzi is very knowledgeable in this area.Best wishes, Madelyn
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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.
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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!
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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.
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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 Promethease.com 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!
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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
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Rav, the Promethease report can be difficult to interpret and it took me awhile to master. Please feel free to PM me questions.
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I was diagnosed with ILC and had mastectomy in February 2018. About 6 months later I had a melanoma on my face which required 2 surgeries. MY BS recommended I get genetic testing to make sure the breast cancer and the melanoma did not have the same mutations. Just got the results back and they say "Variant of Uncertain Significance identified in MUTYH. Complete results say
Gene - MUTYH Variant- c576+3A>G (Intronic) Zygosity - heterozygous Variant Classification - Uncertain
The available information suggest that this variant might be benign but this has not been confirmed. Test results were inconclusive for the MUTYH gene because it is unclear what effect if any the changes have on the gene. some studies indicate that one MUTYH mutation might result in a small increased risk of cancer but this has not been confirmed
Can anyone tell me what this means???
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I had genetic testing done almost 3 weeks ago. My mother has had breast cancer twice in the past 3 years, my father has had prostate cancer. It was highly recommended that I have this testing done. Now all I can do is wait .. wait .. wait for the results and try not to let my mind take over with negative thoughts.
I have thought about this since my mom was diagnosed the first time. If I have mutations, I will have a double mastectomy (without question). It may seem drastic to some, but I have two teenage boys and If I need to lose my breasts to remain healthy and see them grow up, I will do it!
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Hi Dakrock. I looked up MUTYH gene on Clinvar and found that there are 3 known variants associated with cancer. MUTYH is a DNA repair gene and variants in the gene might predispose to, primarily, colon, breast, or non-small cell lung cancer. Your variant does not appear to be associated with cancer, hence, the benign connotation. They likely checked you for the variants associated with cancer and you were negative.
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Murfy
Thank you so much. I could not understand anything on the report and the counselor talked so fast that I was confused. She almost seemed excited that she had found something. I've never seen her that animated. Well this sound better to me. Hope you are well
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Hi everyone, I'm Kylee, 23 years old. This week I got my Myriad results back and tested positive for NBN gene mutation. My mother and aunt are both survivors of cervical/ovarian cancer. No family history of breast cancer that I am aware of. I have dense breasts and unusual pain in my breats. I'm kind of at a loss of where to go from here. My OB mentioned that many women with this same gene mutation have BMX. But my question is, am I too young to even be considering this type of major surgery? I do not have children yet and don't want to short myself from the experience of breast feeding and such. However, I also don't want to put myself in a situation where I'm older and wish I would have taken more "extreme" preventable measures. I meet with my genetic counselor this coming week. I'm hoping this appointment may give me some clarity. Any thoughts or advice is greatly appreciated!
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I was diagnosed with bilateral breast cancer in Oct18. My maternal grandmother died of breast cancer age 45, so I was keen to have genetic testing done although my oncologist thought that the chance of a positive result was low given that my mum hasn't developed cancer. Turns out I have a BRCA2 mutation and my sister has now tested positive as well. I have already lost my breasts and ovaries but my biggest heartbreak is the possibility that my children may have inherited it. Hopefully medicine advances in the next 20 years and by the time my kids do their test and if it happens to be positive decisions on what to do next are not as radical as those I have to take.
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I have a niece who went to a new Ob/Gyn when she moved to Atlanta. In reviewing family history and noting all the breast cancer on her dads side of the family, she recommended that my niece consider genetic testing. She was positive for BRCA1 and had prophylactic bmx & oophrectomy. The surgeon told my sister and me we needed to test as well. Bc there is no breast ca on our side we really didn’t think we would be positive. But, we were both positive as was our brother. We both had prophylactic oophrectomies earlier this year and opted to do close breast health monitoring. Mammogram and breast exam normal for me in Dec 2018 but abnormal MRI in June. Another mammogram in July was normal but US found same spots as MRI. Bilateral biopsies in July left breast benign but micropapillary in right breast. I had bmx in Aug. bc BRCA1 puts recurrence rate at 85% for both breasts. Stage 1 no metastasis. My sister planning to do prophylactic bmx after my dx. We are also of Scandinavian descent
My testing was free bc the lab my sister used (Invitae) offered free testing to family members if they tested within 90 days of my sister. My brother tested bc he has daughters and fortunately, the one who tested was negative. Our family had serious conversations and agreed that each person has to decide what is right for them.
Ultimately I’m am very grateful for the BRCA1 testing as my tumor was not seen on mammogram or exam so who knows how long before it would be picked up. I think this testing may have saved me from more serious treatments and maybe saved my life.
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I had a lumpectomy in July of 2018. Two days before, I had a non-contrast chest CT, which the oncologist ordered because I was a smoker at the time. It showed a 7cm growth on my kidney. So I had a lumpectomy in July, re-excision in August, and a nephrectomy for kidney cancer in September. Because I had previously had a hysterectomy for endometrial cancer, and treatment for multiple low-grade skin cancers, plus my Mom and paternal aunt had bc, and my maternal grandmother had uterine cancer, and my Dad had kidney cancer, my breast surgeon recommended genetic testing in January this year. My insurance would not pay for a really comprehensive panel, just the basics, and the results came back with no genetic causes.
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At the beginning of the summer I felt a lump but was not too worried because there is no bc in my family, that I knew of, and I had a gyno appt in 2 weeks. Because of my age, 40, gyno sent me to a specialist who did an ultrasound and found a few fibroadenomas and one solid one. He biopsied the solid one, said it could be a complex fibroadenoma and set up an appointment in one week. The next week, my life was turned upside down. Malignant? What? It was then the doctor asked me about genetic testing. I started watching a film but left because it was too much. Bad timing. I eventually did the genetic testing but did not get the results until after I had a successful lumpectomy and planning chemo. Now, as BRCA2 I have to figure out if I want more surgery after chemo and before radiation.
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