Share your Genetic Testing Story
Comments
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SpecialK, I have appreciated so many of your posts on various topics!
Just want to point out that, even with little hereditary information to share, having a genetic counselor can be beneficial in the event of a VUS or atypical mutation finding, someone who can sort out the options from a logical perspective. I find it difficult to remain objective when I am the case under review...
It's helpful to have a relationship established and whatever history is available on file because the state of the art is rapidly advancing and by next year new treatment/analysis guidelines may be issued. Anyone with clinical as well as scientific aptitude should consider training for this career since the need will be even greater in the future.
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Just an update to my post concerning insurance paying for the multi-gene test: I received a notification in the mail on Saturday from my insurance company saying they were denying the claim as "experimental". I called the testing company (GeneDx) and they asked me to send them a form that would allow them to appeal for me. I sent that in the mail on Monday morning. Monday afternoon I received payment for the test from my insurance company in the mail! Clearly they're a bit mixed up, but in the end my insurance company did pay for the test.
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vlnrph - thanks! I actually just sent off a DNA test to Ancestry DNA yesterday - I asked for it for my birthday. Once I have that info back on what my geographic origin info is I may elect to do some more extensive genetic testing with counseling. I need to check with my insurance and see what may be covered, but I may likely elect to do it even if they will not cover it. I did Mammaprint testing with the breast tumor, so I also have that genetic info, and donated my calf tumor for research, it was removed at an NCI center by the chief of sarcoma there - it was an unusual case so they were interested. I found it interesting that 23andMe is reinstating their health component to their DNA testing soon - it had been suspended for a while, but I recently read that they are planning to do it again.
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SK - How exciting for you! Let us know??
Also very interesting about your calf tumor and about 23andMe. I'm going to have to check that out.
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farmerlucy - here is a link regarding the 23andMe thing. The calf tumor was very odd, but I was thrilled that it was not sarcoma - things were looking a bit grim, and more scary than breast cancer, at the time. The MRI report indicated a type of sarcoma with a 20% chance of 5 year survival after amputation at the hip - that it was a benign tumor in an unusual location led to some confusion initially. My only sibling had just passed away from a rare cancer - I found this calf lump when I was visiting him for the last time, and I thought it might be a DVT because we had flown, drove and sat so much. After it was removed I was very, very relieved. There was some thought that the nerves that control movement in the lower leg might have to be removed and that I would need a brace, but I had zero issues other than cramping pain that lasted about three weeks. I was exceedingly lucky. Then I was diagnosed with breast cancer 18 months later, but still feel lucky!
http://www.nytimes.com/2015/10/21/business/23andme-will-resume-giving-users-health-data.html?_r=0
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Wow SK! 20% after amputation. I cannot imagine your fear. Thanks for the link! Heading there now.
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farmerlucy - it was a horrible time - I had just lost my brother to stage IV bile duct cancer which killed him rapidly, and on the same day I went for the consult post-MRI (I had read the report so knew what it said) with the sarcoma doc my DH was having a diagnostic colonoscopy for symptoms. We both skated, but it was a stressful time for sure.
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SpecialK - I briefly read your genetic info ...and your soft tissue tumor just stuck out to me because of this: my family is currently going through genetic testing. My mom, sister and I all had breast cancer within last 3.5 years. No previous history. My sister tested positive for Chek2 1100 delc mutation so the rest of us are being tested now. We were told JUST YESTERDAY that people with Chek 2 mutations in addition to a nice long list of other cancers including breast, were prone to soft tissue cancers. My cousin (who probably has the chek 2 mutation) also had a soft tissue cancer in his calf....just throwing it out there.
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denise - thanks for that info, although the thing in my calf was a benign tumor that usually occurs more in the thoracic region - but is benign when found there too. Compounding the situation is I am also a "downwinder" of a radiation accident - so the possibility of some of my issues may be from radiation exposure. We moved in to a new house when I was three years old - six months after a non-publicized nuclear accident. On our street of 10 houses, there has been liver cancer, lung cancer, stomach cancer, bile duct cancer, breast cancer, and leukemia, as well as my mom's rare degenerative neuromuscular disorder. And, these are just the cases I am aware of - there are probably more. I went to my 40th HS reunion last year and there were a lot of people who had passed away considering our age - most of us lived in that area from kindergarten to HS graduation, and many continued living there, I left when I went to college and never lived there again. In our house alone there were three types of cancer, two of them stage IV at detection. I am now the only survivor from my family.
http://ww2.kqed.org/quest/2011/03/20/californias-historical-nuclear-meltdown/
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How does one go about getting a genetic panel
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Hi Marijen - I asked my GYN if I should have genetic testing done based on family history,and she referred me to a high risk breast clinic that did my genetic counseling and testing.
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I don't have a family history that I know of, I am it unless my sisters have it and don't know. My MO hasn't offered it
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I just did it myself online through Color Genomics. $250 no doc referral necessary. I received my full panel results in two months. Very simple
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marijen - your oncologist or surgeon, or even your primary care, can order genetic testing. If you have no family history and were diagnosed at a typical age for breast cancer - over 50, it is unlikely that your cancer is driven by a genetic mutation. Genetic testing can provide potentially useful information, but breast cancer caused by a genetic mutation makes up a relatively small component of cases diagnosed.
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SpecialK I just read the whole topic. My father worked at SS 1958. I know all about it. We lived in Northridge.
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marijen - I am also from Northridge - small world, right? I graduated from Granada Hills High - we moved there in 1959 shortly after the accident, and I lived there until 1974 when I left that area for college and didn't live there again. There has been a class action suit and I believe settlement, but I am not sure if there was any grandfathering for those diagnosed with cancer after the settlement was made.
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Found this tonight... so pleased to see this thread! I posted in another area a month or so back.
For me... no genetic mutations were found in the Breastnext comprehensive hereditary breast cancer panel.
What I was interested in next concerned Her3..... "HER-3 status is an important prognostic marker of disease-specific survival in patients with invasive breast cancer."...
Got MO on board with Foundation One testing of the tumor tissue. I stated I would assume the costs. Excellent support from Foundation One. Determined the cells NOT over-express Her3. Did find four genomic alterations, one of which can be monitored via circulating tumor cells in blood.
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SpecialK and Marijen - wow just read that post - wonder how often that went on in other areas?
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Here is a list from Wikipedia - we didn't know until we were contacted sometime after President Bill Clinton signed a bill issuing claims.
https://en.wikipedia.org/wiki/Nuclear_reactor_accidents_in_the_United_States
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Meow13, I see my "team" tomorrow - my breast surgeon. and I want to ask him for genetic tests but.... what is the reason I need them? You said somewhere yesterday that if insurance pays you should get them but you didn't say why? Yes I'm pretty sure insurance will pay. I don't have family history and I have "common er+ pr+ her2-" Time running out.. thx.
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Why you need genetic testing:
Hereditary Cancer-Related Syndromes
Cancer.Net offers detailed information on the following hereditary conditions, which raise affected families' cancer risk for specific types of cancer. Learn more by selecting a syndrome name:
Ataxia-Telangiectasia
Attenuated Familial Adenomatous Polyposis
Beckwith-Wiedemann Syndrome
Birt-Hogg-Dubé Syndrome
Carney Complex
Cowden Syndrome
Familial Adenomatous Polyposis
Familial Malignant Melanoma
Gardner Syndrome
Hereditary Breast and Ovarian Cancer
Hereditary Diffuse Gastric Cancer
Hereditary Leiomyomatosis and Renal Cell Cancer
Hereditary Mixed Polyposis Syndrome
Hereditary Non-von Hippel Lindau Clear Cell Renal Cell Carcinoma
Hereditary Pancreatitis
Hereditary Papillary Renal Cell Carcinoma
Juvenile Polyposis Syndrome
Li-Fraumeni Syndrome
Lynch Syndrome
Muir-Torre Syndrome
Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 2
MYH-Associated Polyposis
Neurofibromatosis Type 1
Neurofibromatosis Type 2
Nevoid Basal Cell Carcinoma Syndrome
Peutz-Jeghers Syndrome
Tuberous Sclerosis Syndrome
Turcot Syndrome
Von Hippel-Lindau Syndrome
Werner Syndrome
Xeroderma Pigmentosa0 -
I'm not sure if this is the place to ask this question, but when I asked my oncologist at my very first appointment about having genetic testing done, she said there was no indication that I needed it. Later, after doing my own research, it showed several criteria for having testing done and I found this particular one on the Susan G. Komen website:
"A personal history of breast cancer at age 50 or younger and a family member (parent, sibling, child, grandparent, grandchild, uncle, aunt, nephew, niece or first cousin) diagnosed with breast cancer at any age."
I received my biopsy report the day after my 51st birthday, so the BC was definitely there at age 50, and possibly at an even earlier age depending on how fast it was growing (I hadn't had a mammo in 3-5 years prior....stupid, I know). I also have a maternal aunt and a paternal 1st cousin with BC, so I met that criteria as well. I had given the family history info to my doctors but they seemed unconcerned since it wasn't a mother, grandmother, sister, etc. However, I would like to know if there is a hereditary factor there since I have two daughters (ages 24 and 13) and a sister. I am not scheduled to see my oncologist again until January, so I wonder if I could request this of my rads doctor since I am currently undergoing 33 rad treatments. I would think with my age and some history of BC in the family, insurance would cover the cost. Any one else experience or know anything about this?
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I think we can count on knowing something the doctor doesn't know. After all we have more time to research our own case. I wonder do they need tissue or blood for the genetic testing. Or just salilva. I would definitely bring it up to both doctors as soon as possible. I'm working on mine as well. Was told I don't need it. Did you know that 70 -80% of breast cancer is not familial or hereditary? That doesn't mean you can't have a genetic mutation. Please post their final decision. I think they need to be more thorough.
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My test was done with blood, but I believe that others have used a cheek swab.
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At first, before I was diagnosed but had just gotten that abnormal screening mammo report, I asked my husband (who’s a cardiologist) if I needed to be tested because I am Ashkenazi Jewish on both sides. He said no, because of my age at prospective first diagnosis is well into early “seniorhood.” Once I was diagnosed, at my first consult with the BS (and one of her residents who signed me up for the Mayo “decision-tree” trial), she concurred. But after my lx, I read Susan Love’s and Elisa Port’s bc books--and both said genetic testing was indicated for Ashkenazi Jewish women diagnosed AT ANY AGE, regardless of family history. My MO agreed with that at set up a genetic counseling/blood-testing appt. for me (I also signed up for NorthShore’s GenomicHealth project). And Federal law, due to my ethnicity and dx, mandates my insurance cover BRCA testing. Mine also tested for PALB and Chek2, and found I was negative for all, as well as VUS (variants of unknown significance). Now, my insurer may insist on a higher co-pay because I was found not to have any tested mutations, but it still cannot deny coverage.
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My tests were done by swishing gulps of Scope mouthwash & spitting it into vials
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If you want to be tested you should be referred to a genetics counselor. They decide based on your family history whether there is any point in testing. They don't always recommend it
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I am glad this thread started. I've met two other women on here who also have mutations of the NF1 gene as I do. I was tested after my breast cancer diagnosis and a meeting with a geneticist. I am Ashkenazi, my mother died in her early 40's of caner and she was adopted. My diagnosis and family history made me eligible for full genetic testing and my insurance paid for everything. It totaled in the thousands of dollars. I have excellent insurance.
And so, I learned I have 2 mutations of the NF1 gene. There is a link with breast cancer but they're only starting to understand it. I took Tamoxifen for my first two years of hormonal therapy but unfortunately, it doesn't work for cancers that are NF1 driven. I was just switched to Aromasin. I've met with a ridiculous number of doctors about the NF1 in an attempt to understand its implications. Essentially, I now know that I am high risk for other types of cancers and tumors including brain tumors and there isn't a darn thing I can do to prevent any of this. I can be monitored for symptoms and treated accordingly should something turn up. I was VERY clear prior to the testing that I did NOT want information that would frighten me but not allow me to take any preventative measures. My directives fell on deaf ears. Information is power but I am not feeling very powerful.
I am interested in talking with others who have NF1 mutations.
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Hi Ddw79 , Thank you so much for the info. I was denied by my insurance for the BRCA test today and thought I'd look on this site to see if anyone has had luck getting the test approved by appeal. I asked Myriad what the cost is (if I move forward without insurance) and they said $3,600! Your information about Color Genomics has made my day!
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What led you to doing the testing?
There is cancer, cancer, cancer on both sides of my family. My sister, my mother's sister, my mother's aunt, all had breast cancer. My mother's aunt had it at age 24, her sister at 47. My father's side is just eat up with colon cancer, although my father's mother had breast cancer and other cancers. I was urged by my BS to have genetic testing done.
What were your results, and what choices have you made based on the findings?
Initially, it looked like everything was okay: negative BRCA 1&2. Woo-hoo, let's party on! But then 2 weeks later the other 19-panel test revealed the much more rare PALB2 (the pathway to BRCA2) and Chek2 mutations. At the time, the counselor estimated my lifetime risk for BC at around 45%, which is similar to BRCA2. Unfortunately, we didn't find all this out until after my lumpectomies.
The first thing my MO said (after she said I needed chemo, that is) was "Why have you NOT had a BMX already?!" As she explained to me, should I choose the surveillance route, it will mean a lifetime of testing, biopsies, and waiting for the other shoe to drop. The positive gene mutations change everything. So, after completing chemo, I had a prophylactic BMX in February 2016.
Was payment an issue?
Because of my family history, my health insurance picked up the cost.
How have you discussed these decisions with your family?
Since each of my adult kids has a 50% chance of having inherited the bad genes, I shared my results with them. They decided to be tested--my son was negative, but my 22 year old daughter also has the PALB2 mutation. Her geneticist estimates her breast cancer risk at 45-58%. Yikes! I will go with her to see a breast specialist next month to figure out a surveillance plan. I also shared my results with my siblings, who also have a 50% chance of having the bad genes.
As a result of this testing, I was prompted to work up a thorough family tree by talking with four of my elders, 2 on mom's side, 2 on dad's side, and three cousins on my mom's side. I finally finished the family tree last night and was horrified to find that there are 20 cases of cancer on my father's side, 7 on my mother's side, and 5 within my own family of origin. That's a grand total of 32 cases of cancer in my 1st & 2nd degree relatives! Holy cow!
What suggestions would you have for others?
Pay attention to your family tree. Talk to your elders about cancer. One of the things that I found frustrating is that some of the older women in the family never spoke about their cancer, other than to say it was "female cancer", whatever that is. I uncovered 1 case of male breast cancer in a cousin that I never heard of. Back in the day, people didn't talk about cancer like they do today. I was utterly shocked by my research into my family tree!
I wish a doctor had suggested having genetic testing long before now. I never thought to ask. I never thought to even take a hard look at my family's cancer history. I wish I had. Perhaps things could have been different for me if I had known that a PBMX might help me avoid having to go through this cancer experience,
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