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Topic: BRIP1 Positive Genetic Mutation- Anyone else out there?

Forum: High Risk for Breast Cancer — Due to family history, genetics, or other factors.

Posted on: Jan 11, 2015 11:03AM

Brip1geneticmutation wrote:


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. I'm scared and confused. Thank you.

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Jan 11, 2015 01:51PM Moderators wrote:


Although we currently do not have information on BRIP1, you may find our section What to do if your genetic test results are positive helpful. Please keep us posted as what they suggest to you.

Thinking of you!

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Feb 15, 2015 06:40PM jeb1959 wrote:

I had a VUS in BRIP 1 when I was tested a year ago.  I just provided the details and my history in a response somewhere else in this forum.  Hope you can find it.

Dx 2/25/2010, IDC, Right, 3cm, Stage IIA, Grade 2, 0/4 nodes, ER+/PR+, HER2- (FISH)
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Jan 23, 2017 03:06PM DaisyFoord wrote:


Can you tell me what you decided to do? what are the increased risks? My mum had Ovarian Cancer and is in remission, she had it confirmed today that she carries the BRIP1, I will consequently be tested.


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Jun 29, 2017 11:51PM Neenqueen wrote:

hi all! I too have the brip1 gene mutation and found this out a few years back. 2 years ago I had a successful full hysterectomy and no lingering fears of the silent killer that ovarian cancer can be.

I'm seeing a new genetic counselor at the Seattle Cancer Care Alliance and new information has come up about brip1... it may not necessarily be linked to breast cancer as it was once thought to have. However in my case both my mother her sister and their mother all suffered from various types of breast cancer. I have been undergoing additional breast screening every year to ensure that I am healthy and my most recent mammogram and MRI have shown irregular spots in my right breast. Turns out it is a pre cancer cell but all is not lost! They got these cells in time and they fully removed them earlier this week. I am now working with my breast doctor and plastic surgeons to understand next steps for my personal breast health shoukd be, and yes this dies include a double mastectomy. The presence of these pre-cancer cells do increase my lifetime risk of breast cancer to upwards of 80%. It's important to know that this is likely not related to the brip1 gene mutation rather something else that is hereditary.

Based off my experiences I highly recommend having a breast specialist, an oncology GYN, a genetic counselor, and a nutritionist to help with life's choices along the journey of these crazy gene mutations. If it weren't for my GYN recommending a genetic counselor 2 and a had years ago, I may still have the precancer cells inside of me undetected and I would never have known to have had a full hysterectomy as I would never have known that I had the brip1 gene mutation.

I hope this brings some of you peace of mind.

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Jul 1, 2017 11:21AM TruffleShuffle wrote:

Hello all,

I do not carry the Brip1 mutation, but I did test positive for the NBN genetic mutation (which is high risk breast cancer, certain types of skin cancers, and possibly ovarian cancer-they're still studying the ovarian part). I also tested positive for the APC vus (variant of unknown significance) that's considered higher risk for some colon cancers and/polyps? Although I don't have the same genetic mutation that you all have, my heart does go out to you with all the uncertainty and anxiety that comes with testing positive for a genetic mutation that isn't as thoroughly studied as the BRCA genes. NeenQueen is absolutely right in that having a genetic counselor, and proper healthcare providers through all of this is key to a better decision making process. My doctor failed to put me in touch with a genetic counselor, so I was left to seek information on my own. I finally did speak to a counselor, but at that point I had all of my information pretty much down, and she is there when I need her. There is a lot to consider with these mutations. I tested positive a little over a year ago, decided to do something about it, slacked off with my decision & tried to put it out of my mind... that is, until my next mammogram. I'm one of those unfortunate ladies who gets the dreaded call backs, and "diagnostic" mammograms ordered. The sonograms. The orders for a biopsy, then canceled biopsy orders. Sent on my way with, "we will keep an eye on these 'spots'".

As for myself and my genetic mutations, I'm going to have to just take a deep breath, sort through my emotions, and try to be as rational as I can about it. I have an extensive family history of breast and other types of cancer (but mostly breast) on my mother's and father's side- I have what doctors have deemed "problematic breasts", dense, fibrous, and chronically inflamed in some spots. I'm seriously considering a preventative double mastectomy with reconstruction. Yes, many people will think this is a drastic option. But I know myself, Ihave a decent understanding of my genetic mutation, I understand my own extensive family history of breast and hormonal cancers- I know what I can handle- and what I can not handle is lifelong mammograms, and sonograms, call backs, anxiety, waiting rooms, sleepless nights, biopsies... every six months... forever.

You all are in my thoughts. I hope you find answers that give you peace.


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Jul 1, 2017 01:01PM Lula73 wrote:

I won the BRIP1 lottery too. My sister and brother also tested positive for it too. We're questioning mom testing positive as the ovarian cancer family history is on dad's side. They had their blood taken for the testing at the same time st the same center and sent off together to the lab. So we're checking to see what they can do to verify they didn't mix the samples or reports up by accident.

I obviously was diagnosed with bc in jan. But I also was at increased risk due to rads to the chest for childhood cancer treatment (BS said kids who have rads to the chest have 80% chance of developing BC). I had skin & nipple sparing BMX with immediate DIEP flap reconstruction (natural tissue recon) in Feb. started Tamoxifen in march but ended up with blood clots in leg and both lungs and had to discontinue it. Planning hysterectomy (all the female organs) during my stage 2 recon procedure. Insurance didn't want to approve the uterus and cervix removal but the dr made a good enough argument between the radiation exposure and the Tamoxifen use + the heavy periods and the finally approved it.

My sister plans to do the oopherectomy in the next 5 years (they say they recommend it around ages 40-45 and she just turned 40). Mom says she'll have it done as soon as she can after confirmation that the results are really hers come back.

They say BRIP1 is still a pretty rare mutation too. Also if you inherit the BRIP1 mutation from both parents it results in having a blood disorder called fanconi's anemia. It is true that ovarian cancer is a silent killer-by the time you show symptoms and see the doc it's usually too late for them to anything to cure it. In my world that means the ovaries have to go. I haven't fought through 4 cancer's to lose to 1 down the road that I could've prevented

-Lula Dx 1/2017, DCIS/IDC, Right, 1cm, Stage IA, Grade 1, 0/2 nodes, ER+/PR+, HER2- Surgery 2/14/2017 Lymph node removal: Sentinel; Mastectomy: Left, Right; Prophylactic ovary removal; Reconstruction (left): DIEP flap; Reconstruction (right): DIEP flap Hormonal Therapy 3/3/2017 Tamoxifen pills (Nolvadex, Apo-Tamox, Tamofen, Tamone) Surgery 11/2/2017 Prophylactic ovary removal Hormonal Therapy 1/3/2018 Femara (letrozole)
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Jul 1, 2017 04:14PM Evie2017 wrote:

If you test positive for BRIP1 please read my story:

I am being treated for primary peritoneal serous carcinoma which no one has ever heard of. The best way to think of it is ovarian cancer that doesn't involve the ovaries but instead develops on the peritoneum, a cellophane bag-like organ that lines the abdomen. Who knew?

Although I am still waiting for the oncogene to be sequenced, my oncologist and the medical literature say it has the same histology as ovarian cancer and is staged and treated the same way. Turns out, when we were embryos, the peritoneum, ovarian epithelium and fallopian epithelium all developed out of the same tissue and so have the same susceptibilities.

My genetic tests are back, and I have the BRIP1 mutation which is known to increase the risk for my cancer along with ovarian, fallopian and others you already know about. If I had known about BRIP1 back when they first started testing for it a couple of years ago and had a prophylactic bilateral salingoophorectomy, I still would be in the same boat today according to my genetic counselor.

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Aug 28, 2017 01:13AM - edited Aug 28, 2017 01:17AM by Daisyd

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Aug 28, 2017 01:17AM Daisyd wrote:

I was diagnosed with breast cancer in October 2016, at age 49. My sister was diagnosed with breast cancer at 49 and my mom had uterine cancer at 47. Enough red flags to to genetic testing, came back with that I have BRIP1 and PMS2 gen mutation. My sister and mom talked to a genetics specialist last week and tests are underway (they live in my home country Belgium and tests take about 8 weeks there to complete. I decided to have lumpectomy, clear edges and no nodes involved. I opted for no chemo with an onco type score of 30. I underwent radiation June/July 2017. Just finished laparascopic complete hysterectomy/oophorectomy 10 days ago.

Happy so far with the decisions I made for treatment and prevention. We will see what the future brings.

I am 50 now, was not going through menopause yet (I think I did enter perimenopause) and for me the decision to get this surgery done was kind of obvious: my breast cancer was hormone receptive, I am done with babies and I know that ovarian cancer is a silent killer because when it's found, it's most likely in later stage and survival chances are lower. Message me here or private message me if you'd like to chat or need more information.
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Aug 30, 2017 11:27AM elootz wrote:

Daisyd: I'm 39 with triple positive breast cancer and I've just decided to get an oophorectomy. How's the recovery? My doc said I'd be out of work at least 2 weeks, but I just missed the entire month of July for my mastectomy, so I'm hoping to be back in one, is that realistic? Thanks in advance for your input.

Dx 12/16/2016, IDC, Left, 5cm, Stage IIIA, 0/18 nodes, ER+/PR+, HER2+ Targeted Therapy 1/24/2017 Herceptin (trastuzumab) Chemotherapy 1/24/2017 Carboplatin (Paraplatin), Taxotere (docetaxel) Targeted Therapy 1/24/2017 Perjeta (pertuzumab) Surgery 6/30/2017 Mastectomy: Left; Prophylactic mastectomy: Right Radiation Therapy 8/23/2017 Whole-breast: Lymph nodes, Chest wall Hormonal Therapy Arimidex (anastrozole)
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Nov 12, 2017 05:18PM docandpatient wrote:

Thank you so much for your response! It is so helpful. I too tested positive for the BRIP1 gene. My geneticist told me it really was in the research phase and they think that maybe it has to do with a slightly increased chance of ovarian cancer. Thanks to the responses here in this forum, I think I am going to go ahead and get the hysterectomy and oophorectomy early next year. I have a stage 1A breast cancer ER/PR positive Her negative and so lucky it was caught in the early stages. However, I am having ACT chemo to decrease my chance of mets from 20% to 9% which in my book is huge. Now that all my genes are negative except for this one, I want this possibility gone as well. I am in my late 40's and have had my children and the Tamoxifen afterwards will put me in menopause if all this chemo has not already. So what is the point of carrying around these organs that have no purpose except to possibly cause problems in the future. Thanks for sharing the info about the sarcoma because it also says that even if I have all these surgeries I need to be vigilant and keep up with my checkups. Thank you! Any advice from anyone in the forum would be appreciated.

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Nov 12, 2017 09:23PM Moderators wrote:

Hang in there, docandpatient. Just wanted to alert you that the last post in this thread was in August, so you may also want to consider starting a new one. Or maybe someone will help you continue this thread Winking

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Dec 6, 2017 06:51PM GeneticConfusion wrote:

I have received my results for being positive on the brcp1 mutation just recently. My problem is that I had a falling out with my Gyn office and am not comfortable with the staff so I have not returned. I was lost on what to do with my results so I spoke with The company that performed the genetic testing and they spent 10mins telling me there wasn't enough research on this gene for me to worry about, that it's still a UVS? I started googling of course and now I'm really lost.

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Dec 6, 2017 07:03PM MelissaDallas wrote:

Variant of unknown significance means that at this time they really don't know enough about it to say it is a problem or not. Sometimes as more and more is learned about it they may decide it is a risk or they may decide it is just a "quirk." You really should make an appointment with genetics counselor, preferably at a major University Medical Center if you can

LCIS, extensive sclerosing adenosis, TAH/BSO & partial omentectomy for mucinous borderline ovarian tumor.
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Oct 19, 2019 09:46PM dohalloran wrote:

Hi there.

I'm 50 diag. BRIP1 pos. no history of cancer. But my mom diag. bc last week. My sister at age 34 then again age 38 with bc. Aunt with oc. Long story and many diff doctors and thinking this thru, I am taking the prophylactic approach to remove breasts, ovaries, uterus. Surgery is this week 10/24/19. Doing everything in one surgery. Nervous about going right into menopause!!! Not sure about hormonal therapy. I want to be ahead of this and I prefer to not do the wait and see, every 6 month mammo/mri. Personally, I would rather just do the surgery and put it behind me and live my life not having it hanging over my head. My sister in law did the 6 mo check ups and had stage 1 within 6 mos. then had to do chemo. BRIP pos is rare. so not enough data yet to see how serious this really is. I'm in NY. Stony Brook Univ. docs only saw a few with this and they already had cancer. I was their first to test pos. with no cancer... yet. My GP never heard of it when I went for my medical clearance! Best wishes to you all xoxo

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Oct 20, 2019 07:27AM Moderators wrote:

dohalloran, welcome to We're so sorry for the circumstances that have brought you here, but we're glad you've joined us.

Besides the wonderful support and advice you'll get from our members here, you may want to read through the pages of our section on Prophylactic Mastectomy, in our main site.

Also, you'll find other members going through surgery in October in the Topic: Any surgeries scheduled for October?. Feel free to introduce yourself and share your story there too!

We're wishing you the best of luck with surgery. Please, let us know how it all goes!

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