BRACA2 MUTATION

My report is back from St Marys and they have found me to be heterozygous for a BRACA2 sequence variant. c.7007+18T>A The report mentions that it has been reported once on the DMuDB as a variant of unknown significance.

I am not sure if I should take things further by having a bi-lateral mastectomy. I have already had my ovaries removed and am still on Arimidex after 6 years.

Has anyone else had one of these unknowns and if so have you had any further surgeries?

Many thanks
Debbie x

hi lancslas i had varient unknown for bracca 1 it put you in limbo i was told it up to me for the nxt step i decided i wanted overies removed as i feel overian cancer is harder to detect i was told if bracca was deteced dm and overies removel would def happen but becouse it varient unknown i wasnt offered much info or support i had hospital app this morning about overies removel but was told my cancer wasnt hormonal so not much point in removel plus i need to lose weight i feel he already made up his mind as i was varient unknown and he said he hadnt really come across unknown as far as dm i dont feel that is the right route for me if you feel thats right for you look into it your peice of mind is more important all the best and hope this has helped xx

What we normally suggest in clinic is if you have another living affected member who hasn’t been tested that they can also be tested for the same unknown variant. If two family members who are affected by cancer then it may be of more significance. If the other person doesn’t have it then it’s more likely to be of less significance. There may not be anybody else affected who can or wants to be tested either.

Mutations are very rare and unknown variants are rarer. We normally tend to treat them the same as somebody who we didn’t find a mutation in. This means your risk is exactly the same as it was before testing. If you are already high risk then you can still opt to have bilateral mx or at least discuss it. If you have any ov ca in the family then you can request a second opinion. You aren’t asking for ooph based on your cancer but on your family history. Very commonly brca pos patients have bc with no hormone receptors .

Sorry I can’t be of any more help but what I would suggest is write a full list of questions snd make an appt to go back and discuss all these issues with your genetics specialist or genetic psychologist.

Lulu xxx

Thank you both for your valued comments x

I had already been back onto St Marys today to speak to the Genetic’s councillor, as, after looking at the report further last night and with the family history (my Aunt died of ovarian and her daughter my cousin had exactly the same ca as me last year) 100% oestrogen + and also had 2 tumours, we feel that it is too co-incidental not to take it further. My cousins genetic team in Southampton have agreed, if she has the same variant, to do further testing (mRNA expression studies) and that will enable us to have further information. I have also faxed copies through to my Oncologist who had received the letter but not the report!

I always like to be fully aware and informed of my options and then I can make an informed decision, because without this I agree we are just in limbo.

Thank you once again girls for your comments, will let you know how it progresses.

Debbie xxx

Debbie that’s good your cousin is gonna get tested too that will give you a lot more info. Is your aunt your mum or your dads sister? The predictive testing your cousin is having done won’t take as long as a full mutation screen unless they decide to do full screen on her too but that’s pretty unusual.

Look forward to hearing how you get on

Lxx

Hi Lulu

My Aunt was on my Mothers side - My Mum is aged 76 years old and very well health wise - she has never had any problems but did have a hysterectomy and one ovary removed when she was about 36 - I am not sure if that has any relevance to her escaping any problems?

I think that if my cousin does show the same rare variant then she and I will be looking at a bi-lateral.

I will keep you informed.
Debbie xxx