BRCA testing and dying mum’s request

[pingusslappyfeet]

Hi,

My lovely mum died as a result of metastatic breast cancer last week. She turned 72 the day before she died. She had breast cancer first time at 52, had ten years believing she was ‘cancer-free’ and was diagnosed with metastatic cancer at nearly 63.

A few days before she died she said she wanted me to get tested for BRCA. I asked had she been tested herself and she said no. I have a vague memory of her telling me not long after her initial diagnosis that she had been tested and I had nothing to worry about but she said that didn’t ever happen. Perhaps I misremembered it or got the wrong end of the stick about something else she’d found out. Anyway, I wasn’t going to start interrogating her, she was on a lot of pain meds and conversations had been getting a bit foggy for a while. I thought ‘we’ll speak about it another time.’ Despite being ill for a long time her death was sudden and quite brutal and she was dead a few days later.

My mum was quite secretive about her condition, which was her absolute right, but now I am wondering what occasioned her sudden desire for me to be tested. It had never been raised before, in all those years, apart from that conversation she maintained didn’t happen. I wonder if it was simply that things got so bad she felt she had to try to prevent it for her daughter in any way she could. It probably sounds quite selfish to be worrying about my own health but as you can imagine it’s just a little tickle of ‘why?’ which along with trauma, exhaustion and grief is getting louder. I know having the gene doesn’t mean I’ll get it, or not having it makes me safe, and there are many other factors at play.

So do people think it’s worth trying to get this investigated? I’m 45, and our local GP services are so over-subscribed they’re verging on non-existent. She knew this and said unprompted that she’d pay for testing if the NHS won’t do it but obviously that’s not happening now. If she was not tested they won’t have the data to check her genes, will they? So does my mum not opting for that mean they’re less likely to be willing to do mine?

My maternal grandmother also died of metastatic breast cancer at 52 or 54 (can’t recollect which).

TL;DR

My mother and grandmother both got cancer quite young (not sure if it was premenopausal in either case as my mum didn’t know about her mum’s periods being quite young herself at the time and my mum had had a hysterectomy at 50) but neither were tested for the gene (I think). So are the NHS likely to be bothered to test me?

It runs in your family op, I wouldn’t hesitate if it was me.

I don’t know about the NHS as I’m not in the UK but I have a similar family history - DM, auntie and grandma all developed breast cancer in their 50s, and as a result I’ve had to have mammograms every 2 years since I was 35. I haven’t done the BRCA testing because my aunt tested negative, but if she hadn’t been tested it would definitely have been recommended that I should do it. Not sure how I would have felt about the tests to be honest, as you say having the gene doesn’t necessarily mean you’ll get the cancer, and the opposite is true also.

My maternal grandmother died of ovarian cancer as did my maternal aunt, both positive for one of the Brac genes. My mother told me she'd been tested and it was negative but something told me she was lying. So I went to the doctor, who referred me. It took about six months for an appointment. The man I saw was able to look up my family, and saw that I was right, my mother hadn't been tested.

So me and my sisterscall got tested.

I definitely think you should go to your GP. You won't be wasting their time and I'm pretty sure they'll refer you for testing.

You should get tested with that family history..is it possible to get private testing in the UK..given the state of the NHS, that might be the most efficient path if you can afford it

The NHS has set criteria for who is eligible for genetic testing (not just BRCA) for breast cancer.

I don't think you would be eligible as NICE guidance states you need more than 1st or 2nd degree relative diagnosed under the age of 40 and it sounds as if your mum and GM were older than this at diagnosis.

It's also difficult as your DM didn't have the test as genetic testing usually starts by testing the person with cancer - however this also implies her oncology team didn't think her family would need genetic testing.

The exception to this is if you have Jewish ancestry which counts as 1 Jewish grandparent as there is a higher risk for people with Jewish heritage.

There is a helpful NHS page about the pros and cons of genetic testing:

https://www.nhs.uk/conditions/predictive-genetic-tests-cancer/

Get it done! If you can’t get it done publicly then look into private.

I have breast cancer and have learned that we have to advocate for ourselves - don’t be ignored.

I’m not sure if it was entirely clear about her mum’s BRCA status. If there was a way to verify this that would help OP enormously.

If you are of Jewish heritage there ia a testing scheme https://jewishbrca.org/.

Sorry for your loss.

I'd defo get tested. Try the nhs first. It could be that your gp cam access your mums medical records by contacting her gp and there could be answers there?

I had testing for Lynch on the NHS and it was very straightforward.

I think you should speak to your GP and get referred for genetic counselling, they will help you work through your decision of whether to be tested (assuming you're eligible).

ETA what I should have said first - I'm very sorry for your loss. It's very early days for you so don't make any big decisions about this or anything else, but no harm in getting the referral in the works whenever you're ready as it will likely take a while.

Goodness! So a medical professional told you private details of someone else's medical testing and status?!?? That's not legal...

Yeah that's really terrible.

Sorry for the loss of your DM op

You have a strong family history, so in your situation I absolutely would get myself tested

Thanks. I read the NHS guidance online after she said it, and I suspect you may be right, which is why I posted to see what people who know about cancer know about this. I don’t know what my mum was and wasn’t tested for or why. The conversation might have been about the type of cancer. There’s the triple negative, my aunt (by marriage) died of metastatic breast cancer too and I think perhaps she had that. My mum’s wasn’t that, so maybe that’s what the brief ‘reassuring’ conversation was. I know no-one here knows either.

I am wondering about my gran’s diagnosis age because she had her last child, my uncle, at 42 and died, at home, in what sounded like a similar condition to my mum, when he was about eleven. So she may have been quite young when it started. You are correct in that she probably couldn’t have been under forty on initial diagnosis, given she had a baby at 42, unless she was unaware of having it, which is also possible. My mum went to get something checked at 60 and was told by an oncologist that what turned out to be her first metastatic tumour was a sebaceous cyst. The following year something wrong in her eye was flagged by an optician and it all kicked off. My gran’s diagnosis might have been too late, or caught early but it was just the medical profession hadn’t the options. I can’t know. Her progression might well have been faster. Many of the forms of treatment my mum had wouldn’t have been around at that time. So that’s not conclusive either way at the moment and I doubt it can be answered now.

My mum started getting sent for mammograms young, I remember her first one, she went when she had her period, and her saying it was like a form of medieval torture and where we were when she said it; we moved house when I was 12. which would put her at no more than forty.

I wish I could ask her. My dad is still here but he’s not the best at remembering this stuff.

@BarbaraHoward thank you. It is early days and it barely seems real. Also seems wrong to be thinking about this but I’m just looking at my kids and thinking ‘what if.’ I suppose there is no harm in trying to get a GP’s appointment, they can only say no.

@graceinspace999 you sound like her! I am praying for a positive outcome. Power to you 👊

@Bizarred funny, how we’re scared to waste their time. It’s so hard to see a doctor that you feel you need something ‘actually’ wrong.

@SeaToSki I agree, will try NHS and then see.

Thanks to everyone for their time and thoughts.

Easy and cheap test for brca is 23 and me with ancestry and health.

you likely won’t have it. Most bc isn’t as a result of brca. My mum has cancer similar to your mums - metastatic bc that initially wasn’t metastatic. Both me and her were negative for brca

Possibly pre GDPR. But the outcome would have been the same if they'd said they couldn't tell me - I'd have had to be tested, wouldn't I?

Talk to your GP. Even if you don’t/can’t get tested, you may be referred to the local breast cancer family history clinic and can start having annual mammograms going forwards.

My mum died from secondary cancer at 51 but had breast cancer twice before that (so was under 40 when it started) and her sister also died from breast cancer in her late 50s. It was years before gene testing started so I can’t be tested but I’ve been having annual mammograms at my family history breast cancer clinic since I was mid 30s. It’s worth getting on your GP’s ‘radar’ for this.

first of all I’d go to your gp and see if you are eligible to start yearly mammograms now.

Then I’d consider what you’d do with the information if you were positive. I got tested because I got BC at 35 (was negative) and had family history.

going into the testing I knew if I was positive I’d want a double mastectomy and and my ovaries removed. If you don’t want either of those things it might be worth seeing if you can just get mammograms with your family history without needing the testing.

There was no issue for me around children inheriting the gene, is this the case for you?

The other thing to consider is there isn’t just BRAC anymore, I tested positive for a different gene that isn’t as “bad” as BRAC but it still means I want a second mastectomy now (which I have to wait for a year for ). Do you want testing for those as well?

BRCA1/2 genes also increase the risk of prostate cancer for men.
It's worth considering testing if any close male relatives have been diagnosed with prostate cancer.

Yes they will. My grandmother and aunt and cousin all had breast cancer but my mother didn't. They tested me and I was positive. I simply had annual mammograms each year until I had passed the age where I was no longer considered young enough early breast cancer and at that point was put onto every other year.

I'm so sorry for your loss. Please do get tested even if you need to pay for it privately, if you can't and the NHS says you aren't eligible, please do weekly checks and you do need to be strong and firm at GP to get things moving if you do ever find a lump.

Even if it isn't BRCA you may still be eligible to start screening on a different schedule. I would approach your GP regarding a genetics referral. It isn't all about BRCA .

Ask your gp to refer you to your local breast family history clinic - they can assess you for early breast screening and refer for nhs genetic testing if it's indicated

23 and me testing for BRCA is NOT comprehensive, they only look for specific gene changes so can end up inappropriately reassuring by high risk women.

Get tested and ask for an early mammogram.

You deserve to be treated by the NHS.

Come and see your gp.
Honestly I take the history, if it’s clear cut yes/no then i tell you if you meet the guidance.
If there is ambiguity about type/age at diagnosis/family hx etc - then I take the hx, get you to do a summary of family and send it to the genetics team to let them decide. They are very very good.

It’s a good starting point and then you can choose where to go from their.

Maybe take a family history with you, with any other cancers as well eg bowel ovarian etc