BRCA testing - guidance needed

[Miss_Tangled]

I’m wondering if anybody has been tested for the BRCA gene or what you would do if you had the option to be - a little background story may help.

My mum was diagnosed with breast cancer when she was 40, she had a mastectomy and then reached her five year remission.
When she was 46, she began one weekend complaining of tummy pain so my mum was admitted in to hospital where they ran tests and assumed it was gallstones, they took her to theatre to operate saying she would be home the next day.
Unfortunately during surgery they realised that her liver was one mass of cancer and could they could now not stop the bleeding. They brought her back from theater and told us they could not give her anymore blood so we lost her a couple of hours later.

Fast forward exactly ten years later and I have been to see the breast surgeon at the hospital to see about early screening. I come in with quite a low risk but she told me that my mum had triple negative cancer and that she would write to the genetics department to see if they will test me for the same gene.

I am expecting the reply letter any day now and feeling positive to be doing something about it but also it’s quite a nervy road to follow.
I’m quite anxious about finding lumps etc and I have a one year old and a three year old and don’t want them to grow up without a mummy.
Sorry for the long winded post, I’m looking for a bit of Dibb guidance

[RachaelC]

I don’t have any personal experience, but I have a friend who had breast cancer and then found out that she carries the BRCA gene. She has subsequently undergone a double mastectomy and hysterectomy.

She’s blogged about it all so I can share her link if you think it would be helpful for you.

[Frankie & gang]

Hi Miss Tangled
I’ve not been tested however as I was 43 at diagnosis (11, nearly 12 years ago) I was told my daughter would start being screened (mammograms) from age 33. We are in Kent
Hope that helps & I send you healthy vibes!

[katnav]

Hi,
I understand how you feel. My mum died in 1994 from breast cancer and approx 4 years ago I was tested for the gene. I had to meet the consultant first to discuss the repercussions of the results. Firstly what I would do if I did carry the gene and secondly the impact on life insurance etc. She needed to make sure I would be able to "cope"with the results as well as understanding the impact it can have.

I chose to still go ahead and have the test. I do not carry the BRCA gene. I know though if I had I would have had a mastectomy and hysterectomy without a doubt. I have a 6 and 8 year old that I want to be around for as I grew up without my Mum and still find that incredibly difficult.

I have already had one breast lump, was referred and had a biopsy which was nothing serious thankfully. I've been told il have mammograms early from age 40 which I always find bizarre as my Mum died at 39 after being originally diagnosed at 36 so.feel like that would be quite late. I check myself regularly.

It will be a very anxious time for you. Just be sure you will be able to deal with the result, think about what you would do with the result.

[MsMinervaMouse]

I have literally just had my results back from my screening and was found to be negative for 3 mutations best Christmas ever

The one thing you might struggle with is usually they want the paperwork from someone in your family who has been tested and has a mutation, so that they know which strand to test for. Without this, it’s a bit of a needle in a haystack, and if it wasn’t for my brother also having the test, I have a feeling I might have been refused. If you are refused on the NHS on this basis, there is always the option to go private. I think it’s a few hundred pounds.

The geneticist should explain all of your options to you whatever the outcome may be. We are planning on starting a family next year, and she told me I could be a candidate for selective IVF! It was all rather a lot...

If you have any siblings, I would also maybe talk to them about being tested. It’s a 50/50 chance of inheriting the faulty gene. I’m negative, whilst my brother is positive, which I feel terribly guilty about.

Good luck to you. It’s not an easy situation at all xx

(Just to add, my mum died of cancer at 49 in 2001. My maternal cousin died of complications with breast cancer this October just gone, age 36. My other maternal cousin is negative, so we are assuming my uncle and mum were positive, and my other uncle negative. Our strand is one that’s very common in Jewish ancestry, which is weird because as far as we know, our family isn’t Jewish at all.)