BRIP1 Mutation (newer and less info)

Brip1geneticmutation

I tested positive for a new gene mutation called BRIP1 in November. As you may know, it carries a elevated risk for ovarian and breast cancer. It is a fairly new gene mutation and there are not clear cut guidelines on how patients should proceed.

So, here's what has happened so far:

My mom told me she had the BRIP1 gene mutation and when I went to my OBGYN in Nov. he recommended that I see a genetic counselor. So, we mapped my family cancer history (high in ovarian and breast, especially on my maternal side) and she ran the genetic panel. So, like I said, I have this BRIP1 mutation.

Next- the genetic counselors recommended I see a gynecological oncologist. I did that, and she was very informative and we discussed options.

She said she could do a laproscopic surgery and remove the ovaries, but also mentioned the possibility of taking out my uterus as well. She said that way, I may be able to take some low dosages of hormones to help with the instant menopause onset (hormones are still very controversial too). She said this can be a lifestyle change and can cause problems for some people. A friend told me her surgical menopause was horrific and that she still deals with the side effects on a daily basis. There is no screening for ovarian cancer and it is a silent killer and often when found it is too late. I don't want that, but also have a history of depression and those side effects scare me.

In the meantime, Dr.set me up with a transvaginal ultrasound to check on things until I make any decisions about my ovaries and any possible surgery.

The genetic con. also recommended that I see a breast oncologist, so I did that too. I met Dr. Oncologist for breasts and she set me up with a breast MRI on this Friday, and I had a 3d Mammogram last week, she wants to do the MRI this week bc I have dense tissue.

Dr. Breast Oncologist mapped out some plans of action that I can take- ranging from least aggressive to most aggressive. Of course, she said I can get 3d mammos twice a year, or I can see a medical oncologist and take a preventative med... I think tomoxifin or something like that??? My friend at work took tomoxifin and it caused severe blood clotting issues, so I am just trying to learn as much as I can.

The breast oncologist also looked at my breasts and gave me a few options if I wanted to do a double mastectomy. She referred me to plastic surgeon to discuss those options for different types of mastectomies.

So, I am definitely in the information gathering stage and am seeking as much info as I can find.

Any insights would be helpful and appreciated. Thank you.

Ltwig

I also tested positive for Brip1 as well as my mother who is a breast cancer survivor. I have also been to see a gynecologic oncologist who recommended ovary removal at 40. I am getting ovary u/s twice a year as well as CA 125. I am getting mamo and mri of my breasts. It totally freaks me out since my mom had stage 4 breast cancer.

I am interested in hearing what you have decided to do. I am going back to the breast care specialist to discuss potential breast removal but I am not sure if I am ready for that

treelilac

I recently found I'm positive for BRIP1 mutation. I understand it's related to BRCA1's functioning (see pic below). I wonder if that means I'd have some "BRCAness" even though I was tested negative for BRCA1/2. I asked the genetic counselor if platinum agents would work better for me since it targets broken DNA repairs. She said we don't have enough evidence yet.

Credit: http://atlasgeneticsoncology.org/Genes/FA1ID102.html

jeb1959

I also tested positive with a BRIP1 mutation last year.  A couple of doctors said not to make treatment decisions based on the finding.  But, the genetic counselor I was dealing with at the cancer center that treated me for my BC five years ago was in favor of the ooph and so was the team who reviewed my results from the high risk assessment department.  Given my history and the fact that my paternal grandmother died at an early age of ovarian cancer and my mother is a BC survivor, I went ahead with the ooph while having a hysterectomy.  I wish I didn't have to make these hard decisions.  I'm doing fine since the surgery.  I was 50 when diagnosed with BC and 54 when I had the ooph/hysterectomy.

luvmyfam4

I too have tested positive for the BRIP1 mutation. Family history is vague mothers side- great grandmother had double mastectomy, grandmother had uterine cancer; don't know fathers side. My mother and my great aunt are moving forward with genetic testing to see if it's on that side of the family. Genetic counselor and oncologist recommended ovary removal and possible mastectomy. I'm ok with the ovaries coming out just struggling with the mastectomy simply because of the lack of information about the gene. My tumor was 6cm. in the underarm tissue, I had 8 rounds chemo, and need to do radiation because tumor was larger than 4cm, no lymph nodes involved and triple negative. Curious if anyone had mastectomy because of BRIP1 mutation? I'm 44. Thinking I would rather have surgery now while I'm young and healthy then possibly getting a 2nd BC when I'm older and having to do it then. Thanks for any input.

jeb1959

I found out about the BRIP1 mutation four years after my lumpectomy when the next generation genetic testing became available. The risk assessment team at the cancer hospital where I was treated seemed more interested in my having the ooph and never suggested the double mastectomy. I was a bit older than you are when diagnosed with my ER+ BC. That may have had something to do with their recommendations for me. There are a lot of decisions along this road and I've yet to find an easy one. Good luck and PM me if you'd like to further discuss outside the boards.

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edwsmom

HI. I found out today that I have a variant in BRIP1.

My genetic counselor said that it wouldn't impact my treatment decisions, but based on the posts above I feel like I need to have some bigger conversations with my doctors about it.

I have triple positive breast cancer. They are going to give me ovarian suppression medications. Does anyone know anything about the impact of that on ovarian cancer risk?