BRIP1 help?

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GeneticConfusion
GeneticConfusion Member Posts: 2
edited October 2019 in Genetic Testing

I received results today that I am positive for the mutation BRIP1 but do not have any contact with my doctor that ordered the test. I’m not sure now what kind of doctor I should see or follow up with, or if I should have any concern

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  • Moderators
    Moderators Member Posts: 25,912
    edited December 2017

    Hi GeneticConfusion-

    You should follow-up with a genetic counselor, who can go over the results with you in detail. Your insurance should be able to recommend someone, or you can ask your doctor for a referral. Once you have more information, the genetic counselor should be able to advise you on how to proceed.

    The Mods

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  • Lula73
    Lula73 Member Posts: 1,824
    edited December 2017

    Hi genetic confusion- your local cancer center should have a genetic testing counselor and they’ll go over all that with you. Sometimes the testing company has a counselor to go over it too (I know Counsyl does). Anyway I also tested positive and in a nutshell was told that BRIP1 increases risk for ovarian cancer and recommended to remove ovaries around age 45-50. Counsyl coysor said there was a BC risk increase but had no numbers for me. Genetic counselor at cancer center said now they are thinking there isn’t a connection with BC so who knows. Definitely more definitive on the ovarian cancer. So I had mine out 11/2 (I’m 43 and have BC diagnosis). My sister also tested positive - she does not have BC - and she will have hers out in about 5 years (she just turned 40). Hope this helps!

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  • dohalloran
    dohalloran Member Posts: 6
    edited October 2019

    Diagnosed BRIP1 Pos. mutation 2/2019. 44% chance bc and oc high. After digesting this and plenty of research, I have decided to a prophylactic double mastectomy and removal of ovaries/uterus next week. All in one surgery. Hoping to have direct implants. I am 50, 5' 5", 125 lbs. never smoked, drink casually. Healthy otherwise. I have 3 children. Mother was just diagnosed with BC 2 weeks ago and just had lumpectomy this week. My sister had bc at age 34, then another type of bc at age 38. Aunt died of ovarian. My sister with bc tested negative oddly enough. Not an easy decision but doc said after mastectomy my odds go from 44 down to less than 1% but cannot say 0. I think those odds are pretty damn good. I want to be ahead of this and not the wait and see approach. For what? So I can say when I'm 80 that I was lucky and didnt get cancer? I'm in control and blessed to have the information for me to make my personal decision. Not in menopause so I'm nervous about that as well. Wish there was more conversations here on BRIP. I believe it is a fairly newly found gene. Best wishes to you!

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  • dohalloran
    dohalloran Member Posts: 6
    edited October 2019

    Hi Lula. Do you mind sharing info on hormonal therapy? I'm 50. No signs of menopause. Going for masectomy and ovary/uterus removal next week. So going from 0 to 100 right into menopause. I have no cancer. Not sure if I should wait and see how I am after surgery. Not sure if any can bring on cancer. Thank you!

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  • SimoneRC
    SimoneRC Member Posts: 419
    edited October 2019

    Hi dohalloran!

    Sorry you are here, but welcome! I have a different mutation, same surgeries, almost the same age as you, but post menopausal. I did the mastectomy before the total hysterectomy with BSO. I could not do direct to implant. The surgeries themselves are not that bad. The hysterectomy has a longer downtime with restrictions for mine of 8 weeks. The hysterectomy was the tougher of the two for me and other women I read about. Not as much that it is painful, just was more fatigued and restricted. Mine was total laparoscopic so I had the vaginal cuff. I have healed just fine.

    I totally understand your apprehension about being premenopausal. Two thoughts. 1. Have you met with a genetic counselor and a genetic oncologist at a National Cancer Institute Hospital? You may find that to be super helpful. 2. There is a website for all things hysterectomy that I found helpful. Hystersisters.com.

    With the rare genetic mutation your considerations may be different than a “regular” pre menopausal woman who does not have cancer, as you know. And with a rare mutation, the most educated advice will probably be found at a NCI hospital. I think this is really important!

    As you know cancer stinks. So glad you are have come to a firm decision for yourself! I hope all goes smoothly for you with the surgeries and beyond!

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