brip1 mutation

[Skyeplus]

Dear ladies, I have recently been told that I have a gene mutation called brip1. I inherited this from my father. I am the fourth of my cousins to develop ovarian cancer as a result of this faulty gene. Does anyone here have any experience of brip1? Thankyou.

[Lyndy2]

Hello Skyeplus, I have heard of it…that’s about as far as my knowledge goes I am afraid. I believe it’s more associated with breast cancer but the BRCA stands for breast cancer but my BRCA 1 caused OC (I have never had a breast scare).

I suggest you ask for a consultation with the geneticist who did your sequencing and take a list of questions with you.

Generally speaking, the mutation puts carriers at higher risk and if cancer is diagnosed, those with mutations may respond to particular treatments. It would be worth spending some time getting to know more about your particular version of the mutation xx

[Skyeplus in reply to Lyndy2]

Thanks Lyndy2. Have already had lengthy conversations with the Genetics team brip1 is a risk factor more for ovarian cancer. (9% higher than 2% )The research hasn’t yet confirmed s definitive link to breast cancer. Xxx

[Lyndy2 in reply to Skyeplus]

That’s interesting! I think I met someone with BRIP some time ago that had BC but good you have some clear advice x

[Donnie21]

Hi,

Mum was diagnosed with stage 3c last winter. She is BRIP1 positive. We are in the U.K. and were told that routine screening for BRIP is only very recent and that in comparison to BRCA it is rare so less is known, though clearly it is an emerging field. From a familial genetics perspective we were told it increases the risk of ovarian cancer by 10%, that it is associated with later onset cancer and that it isn’t associated with an increased risk in breast cancer or any male cancers. Hence the advice was for my sister who has a family and is mid 50’s to be tested but otherwise for it to stop there for now. From a treatment perspective Mum responded well to chemo to the point that they were able to get her to NED. The supposition was that this was because of BRIP1 which whilst not necessarily conferring HRD (Mums HRD testing was interpreted as negative) might convey some BRCAness which would seem reasonable given they are involved in the same pathway. We were told there is some very early stage analysis of small sub populations that indicate PARPi for individuals with BRIP1 may have similar efficacies to those with BRCA mutations but that it is still very early days.

Hths and best wishes to you and the family,

Donnie.

[Skyeplus in reply to Donnie21]

thankyou Donnie, I hope your mum is doing ok. Her experience is very similar to mine, and I find that reassuring. The Genetics team sent me lots of info and referral letters and recommended that family member, men and women get tested. Four of us, my cousins on the paternal side have ovarian cancer. I inherited BRIP1 from my father and you’re right…it’s rarer. Xxxx

[Donnie21]

Thanks. Sorry for any confusion and to be clear yes you are correct BRIP1, as with any other mutation, can be carried by both the male and female line so it is perfectly possibly that you inherited it from your father. The point our genetics team was making was given it is not currently associated with male cancers there is no need to test males in the family unless they have daughters which in our family is not the case. Of course my nephew, currently 15, may well go on to have his own family and daughters at which point it would be relevant. And indeed in the future I suspect we will have a much better understanding of the the role of BRIP more broadly and wouldn’t be surprised it it was found to have significance in something like prostate cancer. There just doesn’t seem to be the evidence based atm.