To think I ought to qualify for a BRCA test on the NHS?

[Playnicelyforfiveminutes]

Hello :)
Am I being fair to expect an expensive breast cancer screening test because my mum died at 60 from 2 primary breast tumours, both different "types" of cancer?

I have seen a lady at the local hospital (I don't think she was a dr) who said I wouldn't qualify because it must be 2 female relatives. I am going to pay myself, but not everyone has £3000 spare. Am I being precious ?

Swedish
My lay person's understanding is that they have quite complex risk modeling tools and if your risk is greater than a certain threshold you will be referred for further testing. I assume other close relatives that have tested positive would be a risk factor they take into account.

(Happy to be corrected by an expert)

Thanks Chaz. Funny, no-one actually asked me when I had my last mammogram, I've just realised. But I've only found out more details since then. Of course, you can have lots of close relatives who have cancer making it feel like you're more at risk.

Has anyone ever used (or thought of using) 23andme? They offer a combined test for loads of stuff and it's only 99 quid atm.

I am tempted tbh!

www.23andme.com/

"Your family history is pretty weak in comparison to many of the women I have met through BRCA "

Hmm looks like it doesn't it just froM this thread alone. Thank you to all the lovely people for the advice, I feel a lot better in any case even if I am being unreasonable. Sorry for those in a much worse position

When I last checked it out (couple of months ago), 23andme offered very low BRCA coverage, limited to maybe only one mutation, IIRC.

I teach medics about population screening. I teach them 23andme is next to useless. Maybe if you want to know your CF risk (which, in the UK, is very clustered on a single mutation type).

My maternal gm had breast cancer at 55. Her sister died in her 50s of ovarian cancer. My mother then had breast cancer when she was 36. I went for genetic counselling and was told I didn't have enough female relatives to warrant it.

I've therefore had yearly mammograms (on the nhs) to keep an eye on things. My sister and I are now in our late 40s and neither of us have developed breat cancer, so it looks likd my gm and mum were just unlucky.

I know you must be worried, OP, but as others have said, one incidence of someone developing it post-menopause does not raise your risk. The best thing is for you to know how to check yourself properly and go to the GP immediately if you notice any changes in your breasts.

(That's aside from the general ethical issues there are with gaining medical genetic knowledge in the absence of professional medical support and counselling)

Yeah In uni (medic) we've been told that 23&me is a waste of money.

Do people really want to know if they've got this gene?

The 23 and me panel does include the 3 most common BRCA mutations. While that doesn't mean there are definitely no other mutations in the BRCA gene, it would help to set your mind at rest about the most common ones. £99 is a good price, you may want to think about whether you want to know all the other information it would give you. Paying for private testing would look just at the BRCA gene so less likely throw up other 'surprises'. You would probably also be given genetic councelling to help you understand and digest any results. I think to test for rarer ones they have to fully sequence at least sections of the gene which is why it costs more and the NHS don't want to do it unless there is a high chance it is relevant. They will also take in to consideration other factors, for example BRCA mutations are more frequent in women of Ashkanazi Jewish heritage. I don't know what I would do in your situation op, I am sorry about your mum, and I'm sorry you have this worry. I hope you can set your mind at rest somehow.

I'm in the middle of this process right now. I've just had genetic counselling and have had blood taken to test.

In truth only a small portion of the population will carry any BRCA mutation.
My understanding is that a mutation doesn't cause cancer, but rather it is an absence of caretaker cells that protect against it.

Our family history
My mum had cancer in both breasts ( first diagnosis at age 46). My mum died young without being tested for the mutation so we don't know for certain that she carried a mutation.

My cousin ( my maternal cousin) had ovarian cancer and breast cancer age 23. She has since tested positive for both a BRCA1 and BRCA2 mutation. This is extremely unusual.

My maternal grandfather had prostate cancer, as did all his 3 brothers and his father before him. Prostate cancer has an increased risk in male BRCA mutation carriers and so it seems very likely this is where my cousin ( and possibly my mum) inherited the mutation.

Fingers crossed my test is negative. If it's not I am very probably going to choose a double mastectomy and oophrectomy.

To add to the questions about whether people really want to know if they carry the gene.

In my case absolutely.

The risk of developing breast and ovarian cancers in the general population are 11% and 5% respectively.

For BRCA2 carriers the risk is 80% and 45%. A huge risk.

There are screening and preventative options to consider. At the risk of sounding snippy, having lost a parent young, I will do everything I can to prevent the same happening for my son.

I wish I never knew I had lynch syndrome but it's probably because my risk is 80% but it's colorectal cancer/brain/ovarian/skin stomach etc
I don't really have the option of removing my risk factors.

Suppose it's different if there's a chance you can almost definitely decrease/remove your risk

I think that's it sameshitdifferentname - for BRCA mutations there are options. Not easy ones, but options.

I'm really sorry to hear about your situation.

I'm a medical writer, so am fairly comfortable around medical terminology. I think I will go for it - we can afford it and I'm the sort of person who always prefers to know the news even if it's bad.

Someone at the NHS (or more likely at NICE) has done the maths here.

Which is more expensive for the NHS:
a - to screen people with just one family member who had breast cancer
b - to screen only people with at least two family members with breast cancer, and then later treat the people who only had one family member who did not get screened

The "expensiveness" will be counted not just in money but in quality-adjusted life years (deaths, pain, suffering, etc).

It;s reasonably of you to want to have the test.

It's not reasonable of you to think that you have enough information to change the NHS's priorities.

Doing a genetic test for a single gene rules out a problem in that gene but not in the others that may be the cause. So it's better to encourage people without a strongly suggestive family history to have regular screening than give the. The false reassurance of a likely irrelevant test.

Very sorry about your my. - but Testing is expensive and only used when there is strong evidence of breast cancer in several relatives at a young age - eg before 40 or 50

I have had breast cancer at 35 - I was refused testing myself - because there was no evidence of other members of my family having breast cancer at a young age

Many women get breast cancer at 60 - it is not very unusual - my genetics consultant explained it to me as - cancer under 40 generally means a genetic flaw - cancer in your 60s generally means it's life style related - so unless there is strong evidence to suggest its genetic then no the nhs you won't be tested

That said I do believe you can pay yourself to get the test done and I suggest you do this if you are concerned

I have 4 different family members down the female side that have had breast cancer or those with links including my sister. I have had 2 members with breast, 1 with ovarian and 1 with soft tissue sarcoma which are all linked. I had to go to family history clinics where my family tree was drawn and then referred to our regional centre as my % should I have it would be increased significantly. I was told I don't automatically qualify as they have to contact each person's doctors (after consent) to look at the histology of the cancer as only some types of breast, ovarian etc are linked to BRCA. At present its been 12 months since I was referred to our regional centre and it is a slow process. If they do find the histology could suggest a link then they will test my sister for it first because, as they put it "Its like looking for a spelling mistake in a book" but that if they look at the bloods of someone who has had it already then they can find it easier should it be there. This will then give an indication as to where to find it in my blood. I have been offered annual ultrasounds to check my breasts as I am too young for a mammogram. So even with 4 family members its not that straight forward.

Sorry OP don't want to jump your thread, but was wondering from the responses whether it is now possible to be tested without another relative also being tested?

I have on my paternal side GM with breast cancer at 60, aunt with ovarian at 45 and another aunt with breast at 40. When I saw my GP they said it wasn't relevant as paternal but that doesn't seem to be the case from this thread? I know my other aunt and cousin could have had the test but the one surviving aunt refused to be tested and at the time that meant no-one could have the test? I'm now wondering having read this if both these pieces of info aren't correct.

BRCA1 (and BRCA2) is a DNA repair gene. If you have mutations in it, you lose the ability to repair broken pieces of DNA properly. Over the course of your lifetime, it is likely that one of these broken pieces of DNA that remains unrepaired is a gene that, when broken, causes the parent cell to become cancerous.

Caretaker genes

Do people really want to know if they've got this gene?

Yes. There have been recorded incidences of women working in labs that test BRCA status running tests on their own DNA (under the guise of 'non mutated' controls). So even women with no family history or reason to suspect they carry a mutation want to know.

I haven't read the full thread so apologies if this isn't useful, but the NICE guidance for genetic cancers is on their website with a flow chart that you can work through to see if you fit the NICE criteria for testing. If it was a genetics counsellor you saw, it's likely she was correct, but always worth double checking.

My dad (and other relatives) has Lynch. I've elected not get tested but it's a very personal decision, another family member has opted for the test.

Sameshitdiffname - I'd be interested to know why they won't screen you for cancers, if that isn't too nosy? I'm going down the regular screening route without even being tested, how come they won't screen you? Are you very young? Sorry, just being nosy after a frustrating appointment a few months ago. Obviously no need to answer!

My mum has been tested and we are awaiting results, due in the new year.
If she is positive I will get tested, as far as I know if the gene has been identified in a relative you can automatically get tested, but without it you have to have a very strong link.
My mum has played it down, but I know that you have to have a strong history to get through the genetic testing in the first place. Mum has breast cancer, previously had ovarian and my GM had breast cancer, although all those were after the age of 50.
Something I can't find out is how likely is it to be tested positive for faulty gene if you are tested?

I'm trying to be positive and not worry about it. Although realistically even if she is negative, with a strong family history I'm assuming I'll get more screening, as they have only identified a handful of gene mutations and there could be others.