Share your Genetic Testing Story
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Hello all,
I am not diagnosed, but scheduled for a core biopsy on Jan 3. I am very interested in anyone who has tested positive for ATM (vus). I would really like to be able to compile all specific diagnoses info on people with positive ATM (vus), as my genetic counselor states more research is needed to understand the significance of this. I have one aunt who was tested due to our family history and her own diagnosis of BC, and she has requested a copy of the tests to share with me. I hope to be able to share this with all, ifit indicates she too is positive for ATM.
What led you to doing the testing? I had a colonoscopy in 2013 that resulted in a tubular adenoma, and it had only been two years since my last colonoscopy. Also, I have multiple cancers on both side of the family - some at very young ages.
What were your results, and what choices have you made based on the findings? My genetic testing results indicated negative for everything except ATM (vus). Because not much is known about this yet, I make sure to do monthly BSE as I have very dense breasts (heterogeneous) and mammo and ultrasound could potentially miss issues. Also, I never miss colonoscopy deadlines as well as seeing my GI in between if indicated. I even see a dermatologist annually as I have had precancerous areas removed and most recently had a dyplastic Nevis with severe atypia removed.
Was payment an issue? I only had to pay about $125 for my portion of the fees thanks to good insurance.
How have you discussed these decisions with your family? I explained that I was getting tested to make sure there were no underlying risks for cancer,and said I would do whatever the genetic testing indicated should be done to prolong good health and longevity. I plan to push for my children to get tested too. My kids are 33 and 27 and one has a child, so it becomes very relevant to know what may hinder their health.
What suggestions would you have for others? Although some would rather not be burdened with the worries of what “may cause cancer", I prefer to remain proactive and preserve as much of my health and life as possible. Knowing what risks “might" be in your future is the best way to best prepared “if" we are ever faced with that awful diagnosis. Take the test. Know what risks you face. Then live life to the fullest and enjoy your family and friends for as long as you can!
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Great questions! My great grandmother (cervical ca. passed away at 52), grandmother (breast passed away at 54), mother (breast at 45 passed away at 48, she had HER2 but Herceptin wasn't available) and maternal aunt (cervical at 20, had a hysterectomy, breast .ca. at 46 did a lumpectomy and 5 years of tamoxifen...65 and alive!). I started self checks at 17 and mammograms at 36. I also fought for a month to get genetic testing done at 36 which the insurance company finally did pay for. I was diagnosed with a small basal cell carcinoma at that same time, as well. The test results were negative in 2011, so I called the insurance company to see if I could have the bilateral mascectomy and removal of my ovaries anyway. I was told no, the only way this would be approved is if I had cancer or a genetic marker. 6 years later, here I am. I had genetic testing in July for more markers and they were also negative. 44 years old, alive and kicking cancer out. The self checks came in handy, because my mammogram 6 months prior was negative. I have been having lots of educational talks with my 17 year old daughter about screenings and self exams. There are so many new treatments from when my mom was diagnosed when I was 17 years old, too. I know this is crazy...but I wanted my testing to be positive. I don't want my daughter to have to go thru the, "come back when you have cancer" line from insurance if she wants prophylactic surgery. I am also hopeful that we will have many more preventative treatments and better screenings, too.
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Prairies,
Welcome to Breastcancer.org and thank you very much for sharing your story! We'd love to include it on our main site's Member Stories About Genetic Testing section -- would you have a photo you'd like us to add to your story? It can be of you or of something that represents you. Send along in PM if you wish!
Looking forward to seeing you around the boards!
--The Mods
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I probably sound like a broken record.. here I go again.
Was not the cost for me. I thought I had both BRCAs bc mom had ovarian followed by breast cancer. no need other than wanting to be branded by insurances companies. Ovarian 20 plus yrs ago which she was given 1 yr tops and breast 10 plus yrs ago. She is 86 and still kicking. other than age related ailments, no Alzheimers. I have 3 older full sisters past menopause. None has any C issue. So I have a hope.
After BC bomb blew up on my face, I agreed bc I knew I got branded by insurances companies already. Surprise surprise I tested neg for both BRCAs. but PTEN Cowden's positive. So I had bad gene's after all.
My two cents is ladies, the straw broke camels back is my horrendous period. I had no symptoms other than indentation appeared 3 to 6 months prior to the fateful mammo. I never had implants. never smoked.tried birth control pill only one month. Got annual mammos since my early 30s at a same place. Self exam is crucial but female system is highly interrelated. So if your daughter's period, keep an watchful eye.
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http://newsroom.cumc.columbia.edu/blog/2018/01/18/...
Hello - anyone else with these variants? I have a MSH6 variant with direct relatives having breast cancer.
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I was tested due to age and family history, and I tested positive for a CHEK2 mutation. A nurse told me over the phone that I have a 50/50 chance of developing a cancer in my other breast. That's it. It will be 4 months until I can get an appointment with a genetic counselor, and I don't know if insurance will cover it. My docs know little about the mutation, and neither does anyone else, as far as I can tell. It doesn't change my treatment plan, and since I have cancer, I was already going to be in a high risk screening group.
This has felt like the most useless and least responsible part of my breast cancer experience so far. If so little is known about these rare mutations, why are you telling me about them? The testing company seems to be exaggerating the risk, and I don't know why. My CHEK2 support group is full of of people getting PBMs. That's a huge surgery. Is there really just cause for it? It all feels very reckless to me, though I know for others it offers peace of mind. This is just my experience.
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Okkate - It has been a few years but I saw Dr Charles Hollingsworth at Mercy OKC for genetic counseling. He is amazing and I would insist on seeing him, and not an underling. He gave me fifty percent lifetime risk though not Brca pos, and felt like a PBM was reasonable (the only other person besides me who thought so). Turns out I already had BC despite blue ribbon screening notfinding it. He has a book on BC genetics I think. I saw it on Amazon.
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The odds seemed stacked, I have recently loss my Mother to Breast cancer and my sister has staged 4 breast cancer. So I recently was tested for BRCA 1&2 , which I tested positive for BRCA 2 Since this report I and have had bloody nipple discharge as well.
Last week I had a Breast MRI which showed a rapid initial phase and a delayed plateau phase the BI RAD came back as a 4.
I am now scheduled to have a biopsy next week. Nothing I have read so far sounds encouraging. Wondering if anyone has had a similar experience
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The odds seemed stacked, I have recently loss my Mother to Breast cancer and my sister has staged 4 breast cancer. So I recently was tested for BRCA 1&2 , which I tested positive for BRCA 2 Since this report I and have had bloody nipple discharge as well.
Last week I had a Breast MRI which showed a rapid initial phase and a delayed plateau phase the BI RAD came back as a 4.
I am now scheduled to have a biopsy next week. Nothing I have read so far sounds encouraging. Wondering if anyone has had a similar experience?
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Elijahgirl, welcome to Breastcancer.org! We guess you had published the same post twice by mistake, so we have deleted one of them.
We're so sorry for your recent loss and all you're going through, but glad you have found a great place for information and support. Wishing you good luck with biopsy and everything. Please, keep us updated on how you're getting on, we're thinking of you!
The Mods
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I have an appointment for genetic counselling in early May after my oncologist requested for the counselling on my behalf. In Australia you can qualify for government funding. I would have paid if required. Not covered by my health insurance (hospital only).
I met the criteria because of my age (under 60), plus my diagnosis (triple negative) and my maternal grandmother (65) died of breast cancer.
The very interesting yet profoundly sad piece of the puzzle is a suggested link between melanoma and BRACs mutation which the counsellor mentioned. Both my father (67) and brother (50) died of melanoma. So I wonder is it possible that my breast cancer and my brothers melanoma could have come from our grandmother, our father, one to each or no link at all. The counsellor did comment that familiar melanoma can be coincidental.
Our family, like some, is plagued with cancer. My mother died just two years ago from lung cancer (86) , my maternal cousin last year from sarcoma (59), my paternal aunt from non-Hodgkins lymphoma (77), my maternal cousin (64) is managing melanoma!
My reasoning behind pursuing the genetic counselling is two fold. 1. I believe more information is better than less, especially for our children. 2. Without the research we can't have the data; the more data the better qualitythe information.
Ps. It is nice to hear from Ashkenazi's. I had never heard of this term of lineage until I started researching triple negative breast cancer.
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I had genetic counseling and am from Ashkenazi lineage. I was tested for BRAC and am BRAC2 positive. By the time the test came back positive I already had melanoma, and apparently I already had breast cancer (but didn't know it until an MRI last November). So it's there's definitely a link between Melanoma and breast cancer. I got tested just in time so that increased diagnostic tests can be done and insurances pays otherwise the breast cancer would still be unknown.
Interestingly enough my surgeon said that the profile of my cancer was not an aggressive cancer due to BRAC. So I asked why did I get breast cancer, was it just the family connection? He said that I'm an average female in the Bay Area (where breast cancer rates are higher).
My mom and sister both tested positive for BRAC2, of course the test wasn't around when my grandmother was alive, and she didn't have breast cancer. So I wonder why my generation and my mom's generation have it?
Sorry to hear about all the deaths in everyone's family.
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Helen and veeder -- thank you for sharing your stories! Would you mind sending us a PM with a photo of yourself or something that represents you to go along with your story?
Thank you!
--The Mods
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What led you to doing the testing?
Surgeon ordered genetic testing because I was 42 at the time of diagnosis. He said they order it on anyone under 50.
What were your results, and what choices have you made based on the findings?
I tested positive for a mutation in MUTYH gene. It’s associated with colon cancer which runs in my family. It’s also associated with an increase in breast cancer and recurrence of cancer. Breast cancer does not run in my family. Even though I am heterozygous for the mutation It definitely played a role in my decision to have a double mastectomy. I also had a colonoscopy which was clear. I will have to have one every 5 years.
In addition, I tested positive for a BRCA2 mutation of unknown pathogenicity.
Was payment an issue?
No. Insurance covered it 100%
How have you discussed these decisions with your family?
Yes. I talked to my siblings. Most likely the gene is from my paternal side. The genetic counselor did not recommend testing my children for the gene at this time.
What suggestions would you have for others?
I think it’s really good info to have. Knowing my recurrence percent is higher than average will help my doctors monitor my future screenings.
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I was first diagnosed with breast cancer in 2005, stage 1, grade 3, triple negative. That should have been an indication. My surgeon shrugged his shoulders and said, "We have no idea where this came from." The fact that my grandmother had died of breast cancer and my mother had died of ovarian cancer should have been a clue, but no one suggested genetic testing to me at that time. I had a lumpectomy and went through chemo and radiation. I had annual mammograms for several years which all came back as "normal." My niece, who was in her early 30's had a very astute doctor who, upon learning of her family history, suggested she undergo genetic testing. Her results came back positive for the BRCA2 gene. She was terrified and opted for preventative double mastectomy. Within a year of her results, my annual mammogram showed "suspicious" cells in my other breast. Those were diagnosed as stage 0, in situ. Knowing I had the time to do the research, I opted for genetic testing, as well. My niece was kind enough to share her testing results with me so I didn't have to take the broad spectrum tests, but focus on this one thing. I first had to meet with counselors and geneticists who drew up a whole family tree. I think they had a pretty good idea that this was genetic and given my heritage and ancestry, told me right on the spot that it was common. Because my niece had already gone through the whole range of genetic testing, which was covered by her insurance, I could focus on testing for just that one gene, which was far less expensive. I tested positive for BRCA2, as well. Rather than mess around with it, I opted for bilateral mastectomy, as well as total hysterectomy (uterus, cervix, fallopian tubes and ovaries).
In closing, all I can say is there are a lot of different breast cancers, but if you come up triple negative and your doctor shrugs his shoulders and says he/she has no idea where this came from, get genetic testing. I would also like to say that men can carry this gene and pass it on to their daughters. My niece's mother has no history of any cancer in her family. My brother (her dad) evidently inherited it from our mother, who inherited it from her mother, etc., etc.
Knowing there is a genetic predisposition can be helpful and hurtful.
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Lilypond, welcome to Breastcancer.org and thank you for sharing your story here with us! Would you be able to send us private message with a photo to go along with your story?
Thank you!
The Mods
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Age 61, German ancestry, no known Ashkenazi Jewish ancestry, no known consanguinity (genetic traits are passed down thru generations, and if there were too-close-relationships between too-close-relatives, the genetic load can double down in subsequent generations. I answered no known consanguinity, but there is a family history of webbed toes popping up once per generation.)
Mammo, Diagnostic Mammo, Ultrasound Sept. 2017-initial radiologist report did not give BI-Rad score but recommended Ultrasound FNA/fine-needle-aspiration biopsy. Report later revised to BI-Rad 4B.
Genetic testing (blood test, not a mouth swab like on TV) Feb 2018.
Mammo-guided Stereotactic Core Needle Biopsy Feb 2018-12 samples, path report said microcysts,scant stromal fibrosis,and microcalcifications in milk ducts (benign), later on report revised to scant microcysts, stromal fibrosis, and microcalcifications in milk ducts (benign).
So, I met with a genetics counselor whose professional initials after name were MGCS, and below name it said Certified Genetic Counselor. We were all over the road map during the meeting, collecting family history-they specifically want full name and relationship of each relative with history of cancer, type of cancer, plus age at diagnosis and age at death if deceased.
I descend from large families, and I don't know many of my past relatives-just know of them. My paternal grandmother was born in 1887 for example. If you are into geneaology you know how vague cause of death documents were back then. My paternal greatgrandfather (newspaper ~1910) 'Big Hank' traveled to Chicago to consult with medical dr about his 'stomach trouble." He was a very large, obese man and my guess is he had colon cancer as have many of my paternal line relatives. Dad in high school football articles was referred to as Bone Crusher :-) My maternal great-grandmother's county death report said "female trouble." My mother had breast cancer, my sister had ovarian. Who knows?!
Two separate genetics company's packages were presented as options. One screened for a much longer list of genetic factors. It was obvious which one they wanted me to select. However, since I find this screening somewhat esoteric at my age, I went with the INVITAE option because she guaranteed out of pocket would not be more than $250 and the other option came with no guarantee. (In actuality, the final charge I saw on a billing document said $1500 but was also stamped DNB or Do Not Bill. I was never billed anything.) ps just discovered they did a pre-auth with my insurance, but pre-auth'd the date as the day after my blood draw, which meant the insurance then denied the claim based on date according to the EOB BCBS sent me-which explains the DNB.
They tested for ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, NBN, NF1, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, and TP53 genes. My results revealed a genetic variant of uncertain significance: c.1096C>T (p.Arg366Trp) in the RAD51C gene. No mutations or variants were identified in the other genes analyzed.
The RAD51C gene, when it carries one pathogenic RAD51C variant (multiple variants) is associated with an increased risk for autosomal dominant ovarian cancer and possibly breast cancer. Additionally, preliminary evidence supports a correlation with autosomal recessive Fanconi anemia.
My variant however has uncertain significance and conclusions cannot be drawn. The more humans get tested, the more mapped out these variants will become over time.
Science I don't understand:
This sequence change replaces arginine with tryptophan at codon 366 of the RED51C protein (p.Arg366Trp) The arginine residue is moderately conserved and there is a moderate physiochemical difference between arginine and tryptophan.
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my story started 6 years ago when my family Dr asked if I wanted to see a genetic counselor about testing as all the female relatives on my dad's side died of breast cancer - my grandmother and aunt. My grandma was a war bride and most of her family died in the war and she didn't keep in touch with any remaining members. Because of the scant history I didn't qualify for testing. However, less than a year later my sister was diagnosed with IBC and died less than 6 months after diagnosis - and she tested positive for a BRCA1 mutation, as did my dad and myself. Five years later I was scheduled for a prophylactic mastectomy - took that long due to pregnancy and breast feeding - and pre-op imagining showed an area of concern which a biopsy revealed as cancer. I have now completed my active treatment and have scheduled a prophylactic oophorectomy.
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Please let me know if you know anything about below research for recurrences:
Another very interesting area my RO's research (RO in Vancouver) is into blood tests for early cancer DNA. Not the same as tumor marker tests, but simpler and could only cost $150. I will ask him about this and if it could be used to identify early BC recurrence:
http://www.bccancer.bc.ca/about/news-stories/news/2016/new-study-aims-to-find-cancer-in-healthy-volunteers-with-a-simple-blood-test0 -
I am a 59 year old fraternal twin whose mother, twin and now older sister have been diagnosed with BC. I am BRCA negative as are my sisters and mother. Both of my sisters have the CHEK2 gene however my mother did not. After discussing with my primary care physician she sent me to a breast surgeon who then sent me to an oncologist. Just started Tamoxifen. My twin and I have going to be doing a breast cancer study soon through a University in California.
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Runnergurl, welcome to Breastcancer.org, and tank you for sharing your story here with everybody. Please, keep us posted on how you're doing and and how it goes with tamoxifen and with the study! And let us know if you need help or have any suggestions for us, we're always here!
The Mods
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wow, lots of stories here! Saw a surgeon today to consult on a breast cyst (which will have a second ultrasound with possible drainage scheduled), and am being referred to genetic counseling due to my grandfather on my Dad’s side having had breast cancer. My grandmother also had it and my Dad died last year from acute promyelocytic leukemia. So not sure when that will take place or what kind of testing they may or may not order, but it’s very interesting to read everyone’s stories
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Update on my family. My story is on page 3 of this thread about 12 posts down.
I tested positive for the BRCA2 mutation. I also have a Variation of Unknown Significance on STK11. At the time of my testing, I did not discuss this with my children who are minors each with their own special needs.
My older daughter is now 19, and was recently tested: she is negative for BRCA2 mutations. She does have the same SKT-11 VUS.
We are greatly relieved.
DD2 is still a minor.
DS is autistic and dealing with many transitions right now.
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Hey there old friend! So happy to hear your daughter is neg for BRCA2! My son 37 tested negative a few months ago as did my daughter 31!! I am so relieved. Now i know i haven't passed the gene mutation down and neither they nor their children will have to worry. And i remain the only mutant in the family
Hope all id wellDiane
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Just for fun, I decided to do an ancestry DNA test. My daughter used my raw dna results & a program to get my genetic results. My results came back with a BRCA 2 mutation. I mentioned this to my doctor, who ordered multiple screening tests & an appointment with a genetic councilor. One of my tests came back showing I had a thickened endometrium which was suspicios. I had a hysteroscopy with biopsy. The recommendation was a hysterectomy. So on May 25 I had a LAVHSO. Apparently I had multiple cysts throughout & the endometrium had grown into the uterine wall. My uterus was the size of a 10 week pregnancy. I am glad I did this. Then I requested an additional dna test. This one came back with no BRCA 2 but it showed a VUS in the NBN gene. The genetic councilor said that it could be a risk factor for Breast Cancer & it may not. I was told to call them back annually to see if they decide that I should do something about it. In the meantime I can sit here & worry. My mother died at the age of 32. She was diagnosed with Hodgkins disease In stage 4. After they found that they never tested to see if any of her other tumors were breast cancer or not. I was 5 when she passed away. Her twin sister had ovarian & colon cancer. Other than that I do not know much about my mothers side for family history since all contact was cut off when my mother passed away. My doctor had given me a referral to a breast surgeon prior to the 2nd DNA test. That is scheduled for 7/16/2018. I am really thinking about keeping it to talk to her & see if I could just do a prophylactic mastectomy to ease my fear. Another part of the issue is that I am losing my good insurance at the end of this year so I feel that if I am to do anything I need to do it now. Has anyone else been in this type of situation?0 -
Hi Ledick-
Thank you so much for sharing your story! It sounds like you've been through a lot, and we're glad you did that test just for fun. We hope the appointment with the surgeon goes well, at the very least you can talk about some of the options available to you! Please keep us posted.
The Mods
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ledick, I’ve heard false positives are not uncommon with those commercial ancestry tests. I’m glad you got further screening done. Wishing you the best
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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 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.
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!
Having genetic counseling at Johns Hopkins in September. Am 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 willbe doing that Spring of 2019.
Would love to hear from other ATM'ers!
Best of luck to all of us!
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Diane/new_me: Hey there back old friend. So good to see you.
I'm very happy about your children both being negative. What a relief!
All is well here. Lots of transitions going on as my children are 23, 19, and almost 17.
Madelyn
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Hi everyone!
I did genetic testing this February. I had breast cancer in 2011. Didn't do the genetic testing back then. In January of this year I started a new insurance so I got all new doctors. It was kind of devastating actually but am feeling much better about it now.
Since 2011 I have been receiving alternating mammograms/breast MRIs every 6 months. I found a new OBGYN and scheduled all my stuff. During my consultation with her she asked if I was interested in genetic counseling to see if I had BRCA1 or 2 because I was 41 when I had breast cancer and my Mom died of brain cancer. I said SURE why not! SO, I had the test. 3 weeks later I find out I do not have the BRCA1 or 2 gene mutation but I DO have a TP53 gene mutation which is much worse!!!! 
It is called Li-Fraumeni syndrome. I called my Aunt to tell her finding out that she had it too and never thought to call me. ?? We have never been really close, especially since my Mother passed away 14 years ago. So now I get an oncologist.....who is WONDERFUL I must add.......He explains Li-Fraumeni to me and schedules me for all kinds of tests to establish a baseline. (Basically I am at high risk for multiple kinds of cancers, including the brain cancer my Mom passed from.) They searched for cancer everywhere.....I had ultrasounds of everything. I had to have an early colonoscopy and even had to see a dermatologist yesterday. I have a full body MRI in November. Most of my tests were in May including my 6 month breast MRI. Expecting that to be normal I was surprised to hear there was a suspicious enhancement of 6cm +.!!!!!!!! I was hoping it was benign breast tissue, but unfortunately is was not. At LEAST it is LCIS. I talked with my oncologist and I have decided to have a bilateral mastectomy. I am kinda in a whirlwind right now. I did break down and cry a few times.....am trying to just be present in each moment and grateful. Having this mutation doesn't mean I WILL die from Cancer of some kind. I am trying to look at each test in a positive way (lol.....kinda punny) knowing that finding cancer early is the best thing that I can do. Thanks for reading!!0
