Tested positive for BRCA2 gene mutation

[WhereAreWeNow]

Just that really. I got the result today and I'm a bit numb. I'm really scared about what it means for my health and my life expectancy. Scared my DD could also carry it.
I'm on HRT and I'm guessing I'll have to come off that.
Will I need to have a preventative mastectomy?
I'm wondering if anyone else who's been through this has any advice or just a hand hold.

I’ll hold your hand until someone more knowledgeable comes along.

No BRCA2 for me but pretty much every woman in my family gets diagnosed sooner or later. I got my diagnosis at 48. I was on enhanced screening due to family history so it was caught early so thus treatment hasn’t been too much of an ordeal.

Try not to beat yourself up about it in terms of passing it along to your DD. It’s not like you did it on purpose.

What made you get tested?

Thank you @Lilgreygoose
I got tested because my aunt tested positive and suggested I should test too.
There's no breast cancer on my mum's side and I'd stupidly thought that was all that matters in terms of risk. Turns out it doesn't matter if it's maternal or paternal.

Hi,

Im a BRCA1 carrier, had a preventative mastectomy last year at age 35. The Facebook group BRCA support UK and also the National hereditary breast cancer helpline have loads of great resources and people that share their experiences.

I'm sorry, it's really shit when you find out. I'm very happy and healthy though now!

Thanks @nanarita
I'll check out that group. I'm hoping to talk to a genetic counsellor about my options tomorrow.
Was it hard deciding to go for the preventative mastectomy? I just don't know enough about the risks if I do, the risks if I don't, how big the surgery is etc. I've got lots I need to find out.

I'm glad you're healthy now @nanarita

There’s a wonderful charity called Future Dreams that is for people with breast cancer. They have an excellent BRCA support group. They’re based in Kings Cross, London but have lots of online support and information (as well as face to face). I really recommend them.

Thanks Haricot. I'll look them up.

Did you get tested on the NHS? An aunt and cousins have/had the gene but my mother was never diagnosed.

Yes, I did @SwedishEdith

Ah, interesting, I didn't think they would unless a direct relative. I believe, once you are past your mid-50s or so, your risk of breast cancer is no higher than if you didn't have the gene. However, I can understand your worry for your daughters.

I was also thinking that about risk @SwedishEdith but didn’t know for sure to say that to the OP.

how old are you @WhereAreWeNow ?

I know you could be young and on HRT but if you are menopausal in your 50’s you’ve done very well already to dodge it.

If I were you, and I was 50+ I’d ask some very specific questions about enhanced screening (particularly MRI based not mammo) in place of preventative mastectomy. I don’t know too much about BRCA but I do know that it’s not an insignificant % of carriers who don’t present with the disease.

i was tested for BRCA and did receive counselling l, so I pretty much decided that if I did have the gene I’d go with screening in place of mastectomy as there is a small (but not insignificant chance) that the disease won’t develop. I figured I’d roll the dice as irrespective of all the stats and percentages it’s really a 50/50 thing. Either I’d get cancer or I wouldn’t. Same now, either it’s going to recur or it’s not.

i also think it’s different if you’d consider getting a boob job for cosmetic reasons if BRCA/cancer wasn’t on the table. My boobs were objectively perfect according to the plastic surgeon, just a shame about the cancer 😂

So get a note pad and ask a lot of questions as to what your options are.

Hi OP, sorry to hear your news. I'm waiting to be tested as my dad has BRCA2. Can I ask how long it took for the NHS to test you? On a waiting list with Genetics. Hope that's okay to ask.

Don't instantly drop HRT. It's vital you don't drop progesterone as you need it to stop your womb lining from becoming too thick (v unhealthy). Speak to a GP to work out if you can and should reduce it with your news and they'll let you know how to safely change it.

Thanks all. I'm 48 and I don’t think I'm post menopausal (but don't know for sure because Mirena coil has stopped my periods).
I wouldn't have ever considered a boob job for cosmetic reasons. I quite like my breasts and I'm squeamish about surgery so would never do it if it wasn't medically necessary.
I got the genetic testing easily because I have a Jewish grandparent and there's an NHS testing scheme for people with a Jewish grandparent (because brca is especially prevalent in people with Jewish ancestry). It was quick to get the test but it's been 5 months to get the results back.

I think the risk of breast cancer for a woman my age without brca is 2.5% and with the brca2 mutation it's 55%. There's also the risk of ovarian cancer and the option to have ovaries removed.

My cousin developed ovarian cancer and had a BRCA gene, which triggered her sister to get tested. She also tested positive, their mum was negative, but it's suspected that their aunt on the dads side had it as she had had breast cancer.

My cousin who didn't have cancer but had the BRCA had a full mastectomy and hysterectomy in her late 30s. From what I understand, it doesn't fully take risk away, as nobody can say you won't get cancer to anyone, but it's given her some control.

I've had pancreatic cancer when I was 27 and all I craved was a form of control to minimise the chance of recurrence, so I think it would be a massive help mentally, too.

So sorry you've had this diagnosis, try and remember forewarned is forearmed and a preventative opportunity is always a good one. You have my total empathy, I can't imagine the shock you must have had 💐

To be honest the decision wasn't a hard one as lots of women in my family have already had the same surgery (mum, aunt, sister). The risks are massively reduced to under 5% if you get the surgery, but you can also choose to have regular monitoring (I had yearly MRIs before my surgery) and I think you can take Tamoxifen too.

I was very nervous about the surgery but actually it was so much easier than I expected. It is a big op with lots of recovery time but I wasn't in real pain at any point and I got a great cosmetic result (kept my own nipples) which really helped.

I will need to have my ovaries removed in the next few years but that is a much smaller operation, I'll then go straight onto HRT as it will automatically put me into the menopause.

Thank you @Amybelle88

Thank you @nanarita . That's really encouraging/reassuring. Breast surgery sounds like such big scary thing to me so it's good to hear it wasn't too painful or traumatic for you.

Hi op I have breast cancer and would jump at a preventative masectomy in your case.

Breast cancer treatment is effective but it’s been a brutal journey.

i had a masectomy in June and am planning on having a second one once my chemo has finished because I can’t face doing this again.

The recovery from masectomy for me was the easiest part of this journey.

Thank you so much for sharing that @aodirjjd
It helps to put my options into perspective. Wishing you well for your next surgery and your recovery 💐

Hi, I have the BRCA2 gene but this was only discovered when I had slrrady been diagnosed with breast cancer.
Mine is through my paternal line (it's amazing how many people think it can't be!).
Since I was tested my dad and sister also tested positive.
My sister was not deemed psychologically suitable for a preventative mastectomy but I would absolutely have had one rather than cancer. I did have my ovaries removed.
DS1 is now 16 and has been to see genetics about testing, but the implications are fewer for males. DD is only 11 and it will be a more significant decision for her.

I'm sorry you didn't find out about the gene in time to get preventative surgery @weebarra
I'm getting a strong steer here that however terrifying the prospect of preventative surgery is, it's much better than getting cancer.

I had breast cancer 5 years ago and was offered the gene testing after I'd had my lumpectomy and during chemo. There's a lot of breast cancer on my side of the family so I really wish I'd had the rest beforehand. I have the BRCA2 mutation and had a mastectomy when my chemo had finished. A year later I had an oophorectomy too.

Thanks, I've been waiting for about 4 months for my test. GP was great and referred me immediately, but Genetics seem to be a slow moving department. It is a bit stressful, especially as I am already prone to hypochondria at the best of times.