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Genetic Testing, BRAF, etc. Anyone done it?

imelda
Posts: 9
Joined: Aug 2010

I'm curious about genetic testing. I have papillary thyroid cancer and Hashimotos, and autoimmunity and other weird stuff runs in my family big time. I'd like to look into genetic testing, but I'm not really sure how to go about it, or even really what to ask for, what they do, etc. Anybody here ever done it? I live near a major university hospital, I'm wondering if I can get them to maybe 'study' us.

teamwink
Posts: 97
Joined: May 2011

It is funny that you noted this because I had just asked a similar question in another forum. My doc never mentioned this gene to me, and I was interested... so I followed up with the lab that analyzed my thyroid after it was removed. They said that they still had a part of the tissue and that if my doc requested it, they could perform the analysis on the tissue. I'm not completely sure how accurate this would be, as this is just a small portion that the lab keeps for 10 years, but I guess it could not hurt (?). I'm not sure how other labs do this. I wish my doc had mentioned the possibility of this to me :(

sunnyaz
Posts: 582
Joined: Oct 2010

My Endo requested it after my metastasis to the lymph nodes, second surgery. I was positive. Forty-three percent of Papillary Thyroid cancer patients have the mutation. Wikipedia has a good definition. It is somewhat recently discovered and not a lot of doctors are familiar with it. There is a clinical drug trial being done that is in the third stage and may be a good prevention of cancer for those of us that have the gene. I have to be constantly monitored for metastasis. My Thyroid nodule was very small and in less than six months I had met's to the Lymph nodes. My Endo did not give me RAI after my Thyroidectomy because of the size of the tumor. He did not know that I was B-RAF positive at that time.

I was born with other mutations as well. I have a Chiari Malformation in my skull and an underdeveloped jaw. Not sure how I acquired it, but my daughter got the Chiari malformation as well. Strange how it's all in the head/neck area. She was diagnosed about two years ago with a rare form of Epilepsy. Although, we look normal. They found my Chiari malformation by accident when I had an MRI to see if I had Multiple Sclerosis because I was exhibiting symptoms. My mom has Multiple Sclerosis and had it when she was pregnant with me. She and her family were exposed to TCE (Trichlorethylene)in Tucson after Hughes Aircraft, now known as Raytheon, dumped chemicals in the desert near where they lived and exposed our ground water back in the 1950's. Many of my family members have died of different forms of cancer. My grandmother actually had cancer that started in her eye ball, very rare. Nobody really knows the complete effects of what it has done to all that were exposed. I believe that the environment plays a large role in mutations and changing our genetic make up. I thought that someone at the University of Arizona Medical Center and Cancer Center (where I am a patient) would be curious about my case but I haven't met anyone that wants to explore it in more depth. If I had the money I would go back to medical school to study genetics and oncology. I am in nursing and I see so much in my field. Just wish I had more time to ask patient's questions. I feel like it's my calling to some day come up with answers to some very tough questions.

Blessings,
Julie-SunnAZ

nasher
Posts: 507
Joined: Apr 2010

I was told they tested for BRAF but I did not see it in my medical report.

can anyone who knows for sure they have had it done tell me what i should be looking for in my record to make sure it’s been tested for... or if it has not been tested to be able to determine that so I can ask for that because that would defiantly change the way the VA looks at my record when they determine my fitness and disabilities (ranked with all the other disabilities I have).

Craig

sunnyaz
Posts: 582
Joined: Oct 2010

The procedure code is #83914 and it say Mutation Ident OLA/SBCE/ASPE. At least this is what it says on my bill. Anyone in the billing department should be able to tell if the test was done by the code.

Hope this helps.
Blessings,
Julie-SunnyAZ

teamwink
Posts: 97
Joined: May 2011

I asked why this is not done or even an option and the doc said because it is super expensive and insurance doesn't cover it. I wish it had at least been mentioned as an option to me, so that I could make that choice, but it was not. I'm not certain if it is this way everywhere, but that's what I found out here.

nasher
Posts: 507
Joined: Apr 2010

ok did some more reserch

https://www.bcm.edu/geneticlabs/test_detail.cfm?testcode=9000

highlights from this page

Test Includes: Sequence Analysis of codon 600 and 464-469 of the BRAF gene.

Special Notes: This test can also be performed on Fresh Frozen Tissue (#9001).

Turn Around Time: 10 days

List Price: $748.00 *Institutional discounts may apply, please call.

to me this dose not sound super expensive.

----
to be honest if they tell me the test is not covered i will pay the $748 + shipping if nessary out of pocket to get this test done and there is probably other sites that will test for it

alapah's picture
alapah
Posts: 259
Joined: Oct 2009

I have growing lung nodules and just had a surgical lung biopsy to ensure what is there is in fact thyca - it did not light up on a recent WBS with RAI tracer dose so we needed to be 100% sure. They are supposed to run the BRAF gene mutation test to help the oncologists determine which of the kinase inhibitor chemo drugs might work best for me. Will be interesting to see the results. Based on no real understanding of the science, I suspect I am BRAF positive - I also had melanoma in situ around the same time I was diagnosed with thyca. Melanoma is also a BRAF related cancer.

nasher
Posts: 507
Joined: Apr 2010

From what I have been told they keep frozen section for 5 years (at least)

it has taking me visits to 2 hospitals and calling over 5 labs to figure where the frozen section was but I found it. Now I have to wait for Aug 2nd to see a doctor I have never met so I can ask for the lab test to be run. (have been told it’s not going to be a problem it’s just how these things work)

They actually found 2 separate frozen sections one in Bremerton Wa and the other in Washington DC. love being a case study of an interesting case of thyroid carcinoma. I have been told that my thyroid has been sent to over 15 hospitals for study. So there are probably frozen sections at a few more locations.

so hopefully mid August I will know if its B-RAF positive or negative

Craig

Survivor73
Posts: 135
Joined: Oct 2009

So I am in Canada - near Toronto and deal with Princess Margaret Hospital (breast) and Mount Sanai Hospital(thyroid).

I was diag w thyca in 2009. my 2 sisters and 2 nephews have also had thyca. One sis that had thy ca also had breast cancer. Another sis was diag w breast ca this past month.

I was diagnosed with breast cancer and a reocurrance of thy ca this year in Jan. I just had lumpectomy, sentinal node biopsy and rads for Breast ca. I had a right disection last week for the thy ca reoccurance - it went to my lymph nodes at the side of my neck.

So, the breast ca Dr suggested I get genetic testing (it's about time). I was initially placed with the Ovarian and Breast cancer genetic lab to get tested for the BRCA1/2 gene.

They got the history of my family (there is lots more - aunts, uncles, cousins, etc w ca)

Then they took a blood test - that is what they test for this gene.

Anyway, if that shows positive, I don't know if I'll do any further testing. If it comes back neg, then they will test for the PTEN gene - apparently there is a link between breast and thyroid relateed to this gene. Anyway, the only gene that this genetic lab looks for is the BRCA1/2. I have also been referred to the genetic lab at the Hopsital for Sick Children - apparently they have the biggest/best genetic group in Toronto. I have an appt with them next month so I will let you all know what happens.

Also, with joining the labs, I have been asked to have all of my family members sign consent to have access to their samples of whatever was taken out for their surgeries. I have to do this twice since there are two separate hospitals asking for them.

Because of the history of my family, these tests are all covered for me.

I'm really curious about this first test as I also have cysts on my ovaries and am scheduled for a hysterectomy on Aug 9th - I could only do one side, I still have to make my final decision. If it's positive, and there is an increased chance of ovarian ca, I will definately take out everything.

Anyway, I'll let you all know more once I find out...take care all.

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