BRCA found in tissue but not in blood?

Vasotz

Hello!

I am 1 year almost after my cancer diagnosis. I was triple negative but had residual cancer burden I and I am now taking Xeloda after my double mastectomy! I decided to to the FoundationOne test to check for mutations in the tumor! Originally I did the BRCA test in my blood and they told me it was negative! Now after doing the FoundationOne they tell me they found some BRCA1 mutations and I should retake the blood test but go to Myriad Genetics. I trust my oncologist. But is this even possible? I do not want to loose my ovaries I am only 34 and i want to have a child at some point! I cannot believe I am going through this again ! Everything was ging so well the last three months ! Has anyone had a similar experience?

WC3

Yes it is possibly to have genetic variations between tissue and blood samples. But it's also possible that one of the labs made a mistake.

santabarbarian

In my Invitae test (blood), I had one "variant of unknown significance" on TP-53

In my Foundation One test, (tumor) I had two of them on TP-53: the same one from my blood, and another one that does relate to cancer. So I think tumors begin with all your normal genes and then they morph on their own. But this is just a hunch.

Vasotz

So , this is what happened today:

I get a call from my MO and she told me that the results from FoundationOne , show that the molecular profiling indicated I have BRCA1 loss,MYC amplification - equivocal, GF1R amplification, RAD21 amplification, RB1 S302fs*2, TP53 F341fs*3 . (That is what I copied from the report.) So she told me that I may be at a greater risk for ovarian cancer and maybe I should consider what to do with my ovaries and maybe I should consider quickly having children (which I do not know even if I can , I am on Xeloda and I have taken so much chemo).

So , I asked my MO: but I had the blood test for hereditary mutations which showed that I did not have any mutations and I have no increased risk for that? was it mistaken?

So, I called the lab that did the blood test and they told me: that I do not have BRCA for sure or any other type, they told me that we look at the blood for BRCA and the other mutations to see if it is hereditary , we look at the molecular profile of the tumor because she told me that : if you had normal cells you would not have had cancer. Every cancer cell carries a mutation, for you it was what it was written in the report , but it is not from any genetic "hereditary" mutation , it could have been created from environmental reasons, smoking etc etc. So I do not know what make of this.

The FoundationOne report goes to the point of indicating clinical trials PARP inhibitors etc. I do not know how to make sense of it. My MO told me that we will just consider it as further information , if anything happens in the future, which she doubts it. I told her to repeat the blood test just to be sure that there was no mistake in the initial diagnosis of no BRCA mutation. I am really sad I went through all this chemo, double mastectomy, Xeloda and was just getting used to my new breasts and everything was going well with my psychology and now I have all these things to consider again!!!

Anyone that has had any experience with similar reports... it is driving me crazy!!! Which is right the FoundationOne for the tumour tissue or the blood test for the hereditary mutations??

vlnrph

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They could both be correct. In other words, you did not inherit a BRCA mutation but somewhere along the line, in the course of duplicating itself, a mistake was made in copying the DNA of a cell. With that change the tumor growing from this defect now shows a new molecular profile, different from all the 'normal' tissue in your body.

Since your doctor did not explain this in a way you could understand, perhaps she should have referred you back to the genetic counselor who gave the original blood test. Shame on her if she did not have you assessed by one of these master degreed specialists in the first place. A busy oncologist probably does not have the time to keep up with all the advances in this field, take an accurate/exhaustive family history and help you cope with variations of unknown significance, etc. You could still request an appointment for follow-up because it is so confusing to you.

Meanwhile, you might have been given the opportunity to preserve fertility by harvesting eggs prior to treatment. With triple negative at your young age, an aggressive approach is warranted so don't regret the past. You may want to put more information in your signature so that others can understand your situation a little better.

Vasotz

After messing with my psychology I wrote a very lengthy email and then she called me to explain in detail. But this should not have happened in the first place. Anyway, after contacting the genetic counselor , my MO , my breast surgeon and my gynaecologist and after my MO met with the genetic counsellor they told me that I should not worry and it is for the best that I got the report that if anything happens in the future we have some knowledge. I have not inherited a mutation and I understood what happened with the toumor , but it was so frustrating when they told me. Yes, I was so frustrated with my MO because she should have consulted with the genetic specialist , and she did not, before talking to me. I think she managed this result poorly. And it is a surprise to me because she is supposed to be very well updated etc and she is supposed to be top in my country and she is very busy as you said. Anyway, we talked for half an hour and I am better now.

As per the fertility issues, I have frozen ovarian tissue and not eggs , which I hope it helps. They told me because I am young I have chances of my period coming back and the statistics are in my favour. I am taking Zoladex also from the day I began chemo and I have two more months of Xeloda and then I will stop any medication hopefully!!!

vlnrph

Well, it sounds as though you have things figured out and, with frozen tissue as back up, a plan to pursue pregnancy. It is true that knowledge is power - keep asking questions until you are satisfied with the answers!

I did wonder whether you might be outside the US but your English is very good. It looks like it’s been almost a year since diagnosis so I’d say you are due for a break and a chance to get your life back...

Vasotz

Do you think I should consider taking the blood test for the hereditary mutations again? I was thinking of sending a sample to Myriad. I know that the geneticist and the MO and FoundationOne told me it is fine but now , you know I have doubts is it correct maybe they did any mistake in the blood test? You know my mind is restless. Sometimes I think it is better to leave things as it is , because I already have an answer,you know when you poke stuff maybe it is not good, maybe I am still affected from what they told me. From the other hand , I think maybe by doing it again I might have peace of mind ? I do not know....

farmerlucy

If you decide to have it redone you could consider self paying with Color Genomics. It is $199, and it tests thirty genes. The valuable thing for you might be the opportunity to speak with their genetic counselor (included in the price) after your get your results. https://www.color.com/t/welcome?utm_source=Google&utm_medium=cpc&utm_campaign=750180910&kw=color%20genomics&pos=1t1&mt=e&device=t&gclid=EAIaIQobChMIzZOEtNi34AIVFr3sCh2sjwVpEAAYASAAEgKxxvD_BwE