BRCA 1 AND BRCA 2 pos

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tisthyme
tisthyme Member Posts: 49
edited June 2014 in Genetic Testing

Is there anyone who has deleterious mutations in both BRCA1 AND BRCA2?  I just received my results today and I feel like the only one with said results.  

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  • ladyboss1997
    ladyboss1997 Member Posts: 202
    edited August 2012

    You are definitely not alone.

    I found out in October 2011 that I was BRCA1 positive. I had already had a lumpectomy and finished chemo by then, so that news came as a shock. At age 48 I felt like I was doomed to a life of cancer. After doing some research I decided to have a prophylactic oopherectomy. I had that done in April 2012. The doctor removed my ovaries, uterus, and fallopian tubes. For now I have opted on surveillance on my breasts. At some point in time I may decide on a double mastectomy, but right now I just want to get over my last year of surgeries, chemo, and radiation.

          

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  • Sandlake
    Sandlake Member Posts: 211
    edited August 2012

    Hi tisthyme~  you have both BRCA1 & BRCA2 mutations?  I found out April 2012 that I was BRCA2+, I was diagnosed Sept 2011 with TN, opted for a LX.  I am now having a complete hysterectomy Monday Aug 20th, and scheduled Sept 10th for bilateral BX with reconstruction.  Have you been to the FORCE website?  It is a great site for support and information.  Good luck with all of your decisions. You are not alone!

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  • tisthyme
    tisthyme Member Posts: 49
    edited August 2012

    Hi ladies. Thanks for your replies.  Yes, Sandlake, I have one deleterious mutation in BRCA1 and another in BRCA2. How special am I?!Tongue out I have recently enrolled in a study having to do with BRCA and the Dr. who is the lead investigator said that out of 13,000 positive results only 20 had 2 deleterious mutations, one in each BRCA gene. On the FORCE website I found 2 ladies who also have 2 deleterious mutations.  So although it happens, it is rare.  I am 36 and before BC was looking forward to having children, but had to wait so we could eliminate the FC.  I am going to my GYN on Monday to talk to him.  I know he will want me to have surgery, but I want to try and have a child first.  I have already had a single MX and was waiting until I decided what recon route to take and have the other removed at the same time as recon. Now I feel I need to rush to make the decision, or at least to remove the breast.  On my comprehensive BRAC analysis result sheet, it said that my odds go up 20% of having a second breast cancer within 5 years of my first.  F@#* THAT!!! I am over 1 year from diagnosis and I need to get on it.

    Ladyboss, we were diagnosed pretty close to the same time.  I am wishing you lots of happy healing from your year of treatments and surgeries. 

    Sandlake, A TN sister, too. I had the same chemo drugs as you did.  WHat fun they were.!! Tomorrow is your surgery date.  I am thinking of you and am wishing you an uneventful surgery and easy recovery.  Let me know how it goes.  Holding your hand with love. 

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  • bottkota
    bottkota Member Posts: 285
    edited August 2012

    You are not alone here...I carry both mutations. It sucks!!! My mom also carries both mutations, as does her brother and my cousin (mom's brothers daughter) does too. Certainly is in our genes...



    Cathi

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  • Sandlake
    Sandlake Member Posts: 211
    edited August 2012

    tisthyme~ yes we are TN sisters.  How did your appt with the GYN go?  I have a great genectic counselor who helped me so much!  Have you watched the movie "in the family" by Joanna Rudnick?

    Surgery went well, no surprises! So far so good, going to restore my energy for my BMX in a few weeks!  Thanks for your handSmile

    Cyndi 

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  • mymorkies
    mymorkies Member Posts: 2
    edited November 2013


    I am so glad I found this site - I had almost given up hope! I thought that I was the only one with a deleterious mutation on both BRCA1 and BRCA2. I even called Myriad, the lab that did the testing, and the tech said they had maybe 200 results with double mutations (imagine out of the thousands of tests they must perform.) We are unique. I had triple negative breast cancer in 1996 at age of 41, but was diagnosed with ovarian cancer May 31, 2013. Just two more chemos to go and then the bilateral prophylatic mastectomy becomes the question that needs answered. I'm not sure if this is still being monitored but I would enjoy hearing from others with the double mutation.

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  • DiveCat
    DiveCat Member Posts: 968
    edited November 2013


    mymorkies...please check out FORCE. There are others with two mutations there. It is more commonly seen with those with founder mutations, I believe. It is my understanding that risk is not more elevated by having two mutations, though I admit am not sure of all the intricacies there.

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  • mymorkies
    mymorkies Member Posts: 2
    edited November 2013


    DiveCat - Thank you for replying. I will visit the FORCE website, probably not today since it's a chemo day, and hopefully connect with others who also have two mutations. Sometimes I just want to talk with someone who's going/has gone through what I am.


    Thanks again,


    Linda

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  • desimone
    desimone Member Posts: 40
    edited November 2013


    Hi am in the process of being tested. My sister is positive with the BRCA 2 and diagnosed with ovarian when she was 49. I just have been recently diagnosed with breast cancer and had a mastectomy 2 weeks ago (waiting to see oncologist) to determine treatment. I am 49. The tumor was 4.4 cm and 1 node out of 6 had cancer. I guess the next step will be chemo and I am not looking forward to it, If I test positive for the mutation I will have the other breast and ovaries removed. I think this next year will be difficult BUT I will beat this disease!!!

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  • otceb
    otceb Member Posts: 156
    edited December 2013


    Hi desimone, do you have the results of your genetic testing yet? If not, when do you expect to receive it? I think you will soon start chemo? I am sorry to hear this, good luck. I was tested earlier this year and have the BRCA2 mutation, so I then had a mammogram, biopsy, found cancer in both breasts (stage 0 at that point), and had a BMX 2 weeks ago. Will have full pathology results in 4 days... But yes, I should have the ovaries removed next year (at 41 yrs old), not looking forward to this. Keep in touch!

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  • desimone
    desimone Member Posts: 40
    edited December 2013

    Hi - I expect my results in 4 - 8 weeks.  I will start chemo Jan 6 - 8 cycles - the first 4 once  every three weeks (2 drugs) and then the last 4 cycles - every week (1 drug)  for 12 weeks.

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  • desimone
    desimone Member Posts: 40
    edited February 2014

    Hi otceb - I have my test results and I am BRAC2 positive.  I am meeting with my surgeon next Wednesday and my gyno in February about removing my ovaries.

    I will have the surgery after my treatment is all complete.

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  • otceb
    otceb Member Posts: 156
    edited February 2014

    Hi Desimone, I'm so sorry about this result. I hope you are taking it in strides. I think we have another 1-2 tough years ahead of us, but then it should not consume our whole lives... I hope! My youngest cousin also just learned she has the BRCA2 mutation, but since she's in her mid thirties and I think would like another child, she won't have surgeries for the coming years, but will have regular screenings until then. I went to a BRCA meeting in Toronto 2 weeks ago, about 6 other women were there and it was interesting to chat about how this "condition" changes our lives, but how life does go on after a while. Not sure if there's a group around Vancouver? It must be interesting going through chemo at the same time as your sister, I'm sorry she's having a tough time with it.  Stay strong!

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  • sdjgd
    sdjgd Member Posts: 1
    edited June 2014

    I am so glad I found this - I really felt like I was the only person with both also.

    I was diagnosed with breast cancer when I was 31 and did genetic testing and found out I had both. I am a little freaked out about BRCA 1 with high risk of ovarian cancer since I have already had breast cancer, the testing every 6 months gives me so much anxiety.

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