Topic: Possible BRIP1 mutation, any help is appreciated.

Forum: Genetic Testing — ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, NBN, NF1, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53, mismatch repair genes (MLH1, MSH2, MSH6, PMS2, EPCAM), and VUS (variants of unknown significance)

Posted on: Aug 2, 2022 03:34PM

Posted on: Aug 2, 2022 03:34PM

airisto wrote:

Hi! I hope it's ok I post here, I am very new so apologies if I do this wrong. I know nobody here is a doctor but I'm looking for any advice I can get right now:

I semi recently learned my mother has the BRIP1 mutation, her and her cousin got tested after her cousins brother passed from lymphoma (unrelated)

I am very shocked to learn this because we do not have a history of cancer in the family, only a little on my moms fathers side (which is where the mutation comes from) but everyone in my first degree family rarely has any health issues. My mom got a hysterectomy at age 58 and was never diagnosed with cancer.

My dilemma is I want to know my risk, but my moms genetic counselor told her to tell me not to test until I'm 30 because of some insurance reason (I just turned 24, and I don't have money or insurance to meet now anyways...)

For those who don't know about BRIP1 it gives you a higher chance of OC (10% instead of 2%)and possibly BC, it's definitely not as scary as the bigger genes but still elevates risk.

Guidelines for this mutation say I don't need to do anything until around age 45-50, considering none of my mothers cousins got BC until they were in their 50's, is it safe to assume I have time to wait this out?

I certainly don't want to put myself into forced menopause until I need to, I just feel trapped and confused and I have no one to talk to, I'd again really appreciate any advice I can get on this matter!! Thank you.

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Aug 3, 2022 05:33AM rah2464 wrote:

Airisto - I had genetic testing done after being diagnosed with BC at age 54. My genetic counselor had me sign documentation that I had already purchased any intended insurance policies due to concern about information disclosure. So there is some validity to the recommendation that you wait on testing until you get financials set up.

I would suggest you start with a trusted doctor - PCP or gyn - and craft a plan to monitor your health. It is certainly possible (very possible in fact) that you didn't inherit this genetic mutation. And even if you did, it doesn't mean that it will cause you to have cancer as you may have other mechanisms in your dna that protect you. You said your family really has no cancer history which is wonderful. I have no known genetic mutation but my family is riddled with all kinds. In fact in this generation all my sisters and I developed breast cancer which no one else had. I am beginning to feel as though it is a crapshoot.

I think you will feel better knowing you are watched a little closer. I wish you all the very best and try not to let the "what ifs" take too much of you.

Dx 5/23/2018, IDC, Left, 1cm, Stage IA, Grade 2, 0/4 nodes, ER+/PR+, HER2- Surgery 6/27/2018 Mastectomy; Mastectomy (Left); Mastectomy (Right); Reconstruction (Left): Silicone implant; Reconstruction (Right): Silicone implant Hormonal Therapy 7/27/2018 Tamoxifen pills (Nolvadex, Apo-Tamox, Tamofen, Tamone)
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Aug 8, 2022 09:16AM lyncr wrote:

I had genetic testing done after my BC diagnosis. It came back with a BRIP1 mutation. However, not all mutations are pathogenic, meaning they cause cancer. Mine is a “variant of unknown significance” which means at some point it will be determined whether it is benign or pathogenic. As far as I understand, there are so many more genes than we realize and not all mutations are significant or cause cancer. Keep your doctors informed and find out if you can, exactly what mutation it is.

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