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 ?

less than 20% of breast cancer cases have a genetic link. Most are random mutations. Therefore there is very little chance that your mums breast cancer is hereditary, especially as she was older - 60 isn't young for breast cancer. If the NHS tested every person with a next of kin with cancer it would cost a lot, which would be better spent on researching treatment options.

YABU. One relative aged 60 does not mean there's likely to be a genetic link.

Why do you want to be tested? What would you do differently, depending on the results?

And please remember - having the faulty gene does not necessarily mean you will get the cancer - environmental factors have to be in place too. Similarly, not having the gene does not mean you won't get the cancer. You can still get it for other reasons.

Hi OP

I'm sorry to hear about your Mum. I tested BRCA 2 positive in 2006 (mum, sister, aunt all had BC under 40). All on the NHS, I have since had a double mastectomy. (I'm 35 now)

I think the tests have moved on a bit but back then you had to have 2 family samples to compare in order to identify the mutation (so you'd need sufficient blood samples from both you and your DM). I think it is possible now to isolate the mutation without comparable samples, but it might not be the standard test offered by the NHS (someone will correct me if I'm wrong) which may well still rely on having two samples from the same family to compare unless there is a much stronger family history.

Also, genetics is largely statistics and they have to use some criteria to judge who they select for the test, and as your DM was over 60, chances of her cancer having been genetic are massively reduced, and for anyone post-menopause, in fact.

It's also not just the expensive test, it comes with genetic counselling and potential screening even if you don't test positive. There are also other genes and "hereditary factors" that cannot be screened for and they don't fully understand yet. BRCA mutations are actually very rare, and your family history is pretty weak in comparison to many of the women I have met through BRCA networks.

The best thing to do is to keep a close eye on your breast health and request screening when you need it. But a BRCA test may not help you (as it can rule in or out a BRCA mutation, but not some other risk factors, genetic or otherwise).

I do think you should be given the opportunity to speak to a genetic counsellor who might be able to explain risk factors and family history better than I can. I was able to self refer to a genetics clinic, even 10 years ago - do you know where your nearest one might be?

My mum died of BC at 58, my grandfather has prostate cancer, his mum had breast cancer, her mum had ovarian cancer, her sister had breast cancer.

NHS told me I didn't qualify for a test.....

Sorry - cross posted with loads of people..

NHS told me I didn't qualify for a test.....

That's mysterious. The prostate cancer probably doesn't mean anything (most men die with, but not from prostate cancer) but the breast cancer and ovarian cancer seem pretty obvious.

I am a bit puzzled about the mention of colon cancer being related to breast cancer. Apparently the inheritable breast cancer gene leads to cancer types that are not hormone dependent. (At least it would be news to me that colon cancer has anything to do with estrogen)

I wasn't given genetic testing even though my mum developed breast cancer before the age of 40 because no other female relative had had it. I did qualify for annual mammograms but they have now ended as I am in my mid 40's so unlikely to be far from normal population risk for breast cancer (i.e. if I was going to develop early BC I would have had it by now). This was despite the fact that my DM died of a different cancer in her early 50's.

Genetic testing is most straightforward when they have a sample from the relative that had BC, not possible in either of our cases.

People over estimate the genetic risk of BC it is much lower than you think - its actually no more than 5-10% of BC. The vast majority of BC are spontaneous rather than inherited and one of the biggest risk factors for BC is age, the older you are the more likely you are to get BC.

Hi. I tested positive for it for both ovarian and breast. I was very high. My mom and her mom both died of ovarian and both had breast previously . They died before 45. I am in my 40s now. I had both my ovaries out and having yearly mammograms. I was advised it had to be female side of family ie like my nan and mom. I did have the test before all publicity of angelina and Michelle heaton. Think a lot more people are asking for it now hence they are cutting back. Hope you get sorted

Sorry also it had to be two generations at least in female side

I know it's around £3000 to have a private mastectomy so maybe you were confused about price....A gene test should only be around a couple hundred pounds

My DM died of breast cancer at 36 ...

I was offered gene therapy on the nhs when I was 25 .I delayed it until I was sure I was done having kids ( not sure why that was such a factor looking back but it seemed important at the time !) I was referred at 30 ,

I had to do a family tree of close relatives , noting how old and what they died of . DM , her brother (although survived and is well ) their DF , my paternal Gf and paternal uncle all had cancer .

I was deemed not risky enough to warrant the actual blood test and Dm cancer was said to be just one of those things with no known explanation as to why it got her (not environmental , possibly hormonal but it was the 80's more is known now )

I left the session with a recommendation of mammograms from 40 ( instead of 50 ) and a yearly breast check at GP's until I reach 40 .

I'm 34 now and if I think to hard about about it I get all twitchy and convince myself I'm a ticking time bomb , mostly I try not to think about it !!

OP , unfortunately as sad as it is , your DM having cancer at 60 is not exceptional and wouldn't warrant the funding .

They say knowledge is power but I'm still none the wiser , however if it's important to you then £3k is worth it , just done let it rule your thoughts ( says me )

I'm sorry another person has to even be thinking about this !

I had the BRCA test done when I was 18 and found out I have BRCA2.

I only have one female relative, my mum, who is known to have cancer. My mums dad (who passed down the gene) died when he was 55 and he never knew any of his family.

My mum had quite a rare type of breast cancer and it is one that is strongly linked to the gene mutation. She did have to fight very hard to get tested though but eventually she did and now me and my brother and my son all have the knowledge.

Do you know what kind of cancer your mum had?

Excessive and/or unnecessary tests do cause harm. Just because the test is available doesn't mean it is automatically a good idea to have it

This, a thousand times over. In fact, the availability of a screening test is just about at the bottom of any list of "what screening tests should we offer our population?"

This is my understanding.
They need to text someone in the family who has/had one of the Brca related cancers. Then if they find the faulty Brca gene in them, they can look for the same fault in your Dna. This is the same on nhs and private. It's like looking for a needle in a haystack, it's a lot of work, so finding a definite fault first then looking for a copy is much easier.
I am high risk, grandma had ovarian cancer, great grandmother had pancreatic cancer, many cousins with breast, prostate and other brcas cancers. However the fault has not been found yet. A cousin who has had breadt cancer is awaiting results of genetic testing (in the nhs). When her results are back, then they will take a sample from me to see if I carry the fault - I may not have it but I have a higher chance of having it.
In the meantime, the NHS haves me annual mammograms even though I am only 41 to catch anything early. There is no ovarian cancer screening.
I have met with surgical consultant on the NHS to find out what my options are if it turns out I have the faulty gene, for example tamoxifen or surgery to remove breasts and ovaries.
We had to get permission from our many relatives for their medical histories to be accessed, luckily
They all gave permission, hence the high risk pattern of Brca fault related cancers could be picked up.
Hope that helps.

at the bottom of any list of = at the bottom of any list of criteria for

It's a funny quirk of publicity.

Breast cancer is VERY common (between 1/8 and 1/9 women). So it's very easy to have one or more close female relatives who have been afflicted. Also EVERYONE knows someone who has had it.

However, hereditary cancers are relatively rare (less than 10%) and BRCA cancers even more rare (I thought less than 1%).

However: breast cancer in young women is much better publicised (because it makes better PR for the charities, if we're honest) - so there's a slight misunderstanding about how prevalent it is that there is a known genetic link.

Sorry for derail: but I actually get quite cross about this, for every woman like me or my sister having cancer treatment or mastectomies in our 20s there are literally 100 grannies suffering too, but they don't get the column inches or the funding because it's not "tragic" or interesting.

OP I hope you can find someone who can explain to you, or get an affordable test that will hopefully set your mind at rest.

but they don't get the column inches or the funding because it's not "tragic" or interesting

It's called the Kylie Minogue Factor.

LaContessa
At it may depend on their age when they developed the disease and also they usually look at first and second degree relatives
People who meet the following criteria should be offered secondary care and do not require referral to a specialist genetic clinic:

•
one first-degree relative diagnosed with breast cancer at younger than age 40 years or

•
two first-degree or second-degree relatives diagnosed with breast cancer at an average age of older than 50 years or

•
three first-degree or second-degree relatives diagnosed with breast cancer at an average age of older than 60 years or

•
a formal risk assessment (usually carried out in a specialist genetic clinic) or a family history pattern is likely to give risks of greater than 3–8% risk in the next 10 years for women aged 40 years, or a lifetime risk of 17% or greater but less than 30%[6]

www.nice.org.uk/guidance/CG164/chapter/1-Recommendations

My mum has had breast and now terminal ovarian, this is the reason myself and sister had the test. At no point was a second female member mentioned. We are in the north west, perhaps different tryst different policies??

NW genetics is amazing, medically and academically. We have a very extensive BRCA screening policy.

We have this gene in our family but I still don't qualify for testing as my late mum was never diagnosed with cancer. As I'm getting older I realise that my risk is probably in line with the general population. But, with daughters, I suppose I'd like to know for sure that I don't have it and haven't passed it on.

My mum was tested as her mother died of it at 46, her sister had it twice, grandmother died of it and 2 cousins had it. She was negative for both BRACAS.

They will test you if they feel it's necessary, but one relative is not a pattern.

Forgot to say my mum had it too, hence the test to see if I was at risk.

Re the criteria for testing "two first-degree or second-degree relatives diagnosed with breast cancer at an average age of older than 50 years"

What about if they've only tested positive for the gene but not (yet) gone on to develop cancer?

Stranger
It is the combination of Breast and Ovarian cancer that meets the guidelines for genetic screening. From the NICE guideance I linked to above. Criteria for genetic screening include:-

"•Families containing one relative with ovarian cancer at any age and, on the same side of the family:

◦
one first-degree relative (including the relative with ovarian cancer) or second-degree relative diagnosed with breast cancer at younger than age 50 years [2004] or"