I have received a letter today after having tests in May 09 and they have not found any BRCA1 or BRCA2 fault in the blood samples!
The letter goes on to say ‘This does not mean that the breast cancer in the family is not genetic. We will continue to store samples so that we are able to screen any other breast cancer genes in the future.’ In my family, we have my mum, her identical twin sister, their only other sister and their only female cousin plus me all with bc.
So still no explanation as to why I got it! Just one of those things I suppose and guess we’ll never know why.
Hi Liz, I received the same results and reply…but my daughter will be able to have screening 5 years before the age I developed breast cancer and she will be able to have ovarian screening from age 40. (My Mum had ovarian cancer.)
My younger sister has yearly mammograms (she’s in her 40’s) and she’s also had an oophorectomy. xx
Hi liz cat, My genetic screening came back negative for Brca 1 and 2 despite my mum having bc twice and her aunt having it too. All of us were under 50 at the time of dx. However cancer research uk wanted us to submit blood to help them fine new genes in the future as they seem sure there are about but have not been discovered yet.
Rachy xx
I too had those results last year, I’m assuming that mine was a genetic link, that is yet to discovered, as I too unfortunately have quite a strong cancer family tree.
Rachy I haven’t been asked to provide blood to cancer research ( I would be more than happy to do so if asked )but my original sample was kept to test for things that might develop in the future.
Hi
I asked after my secondary dx to have genetic screening and went to a counselling session first. The geneticist had plotted my family tree showing female members who had had BC (my Mum included) but explained because of the pattern of incidence I was very unlikely to be BRCA 1 or 2. I haven’t had my blood test result back yet (I was asked if I wanted to know) but my sample, along with others, is being held on a central database as, like Rachy says, they expect to find a group of other genes that will predispose someone to BC. Our pathology samples are destroyed after 10 years (I seem to remember being told) and this is why they want to store as much information as possible from blood samples.
Nicky x
Hi Liz,
I’ve often thought about you as I know you’ve been anxiously waiting for the results. I can sense your frustration; you have a very strong family history but have tested negative for BRCA 1 and 2. Firstly, have they tested 100% of the genes? If not then a negative result can be a false negative. Its possible there is a genetic fault but as yet the gene is unidentifiable, its not 20 years since BRCA 1 & 2 were identified so a BRCA 3 is not out of the question. I know this doesn’t help you right now - you want to know why so many family members have had bc and I can understand that. Its also possible that your family history is down to sheer bad luck and there is no genetic mutation.
Best wishes, take care x
Many thanks for your posting - I know you’re the genetic expert on here. Frustrating is definitely the word!! It seems to have taken so long to get nowhere so to speak - it can’t just be coincidence that all my female family members apart from my sister (fingers crossed it stays that way for her) have had bc… However I know we are far from unique in this situation. It would just be an explanation if they had found a faulty gene. I have no idea as to what percentage they tested - would they tell me if I rang them??? Might make a call tomorrow.
Anyway, put all that out of my mind for now and be extremely grateful that my secondaries are stable and treatment is working at the mo!!
I imagine it is very likely other faulty genes will be found, but I think it is also possible that other traits or lifestyle factors that run in families could predispose women from the same family to get bc. For instance starting periods early, late menopause, not breast feeding, being overweight, smoking etc. I’m not suggesting this is the case in your family at all lizcat, but may be an explanation for why some families seem to be so unlucky .
Hi Liz, yes do give them a call, mine were tested 100%.
I breast fed, never smoked, wasn’t overweight…in fact I could have ticked all the right boxes but oops here I am…???
Good to hear all is well with you…x
Liz unfortunately the majority of people who have testing get an inconclusive result… it is thought there are more genes responsible for breast cancers but they havent been identified yet.
most analysis nowadays does test 100% of the gene however in years gone by this was not always the case.
you can request you blood be sent to the BRCA 3 trial for further analysis… this research is called the genetics of familial breast cancer and has been going on for many years and are trying to establish more genes.
brca 1 was identified in 1994 and brca 2 in 1995 and they thought when these were discovered they would be the answer to many of the familial cases of BC however that was not the case and the majority of familial BC is not genetic.
belinda i note you say your daughter will get ovarian screening, however there is no such thing as ovarian screening at present… there was a research trial called foccsuk but the results were inconclusive so far and the recruiting ended in march this year… the full analysis of the research isnt likely to be available until 2013 so currently there is no effective screening.
can i just say that even if no mutation is found and you have a significant family history (enough to be tested through laboratory analysis means you are a high risk family) then your first degree family members or 2nd degree through a male are still at an increased risk and still fit the criteria for early screening… which should commence 5 years younger than the youngest affected member.
if you test negative but still have a significantly high risk and want to consider prophylactic surgery ask your genetic team for a referral as this is still an option for yourself and your relatives… you may find even though you have it sorted in your head right now but a few weeks down the line you think hold on a minute… then do go and arrange to speak to them … they should also have a psychologist who works alongside the genetic team if you have any issues surrounding your results, on going treatment and screening.
Hi Lulu, in my part of England those at higher risk are offered scans, like the trial and bloods are tested to. My sister had regular scans and bloods taken before opting for an oophorectomy.
Whether they are worthwhile or effective? xx (I will pm you the centre my family come under.)
Although the UK FOCSS trial is now closed in that it is no longer recruiting, the scans and blood tests are still happening - I have a blood test due next week! This trial recruited only high risk women and we have an annual ultrasound and 4 monthly bloodtests. Repeat bloodtests at 2 monthly intervals and extra scans when required. These won’t stop until next summer. Of course, they won’t know until it reports whether or not all this is effective …
Liz, I too came back with no BRCA 1 or 2 mutation (and was told that here they always test 100% of the genes concerned) and am now in the BRCA 3 study. My test report says that they tested the whole lot so your may well say too.
It is interesting that the support services tend to concentrate on people with a mutation (who may or may not have had bc) and exclude those of us who don’t but have been told that they are “high” risk regardless of the result (and who have had bc). I have my final appointment with the genetic counsellor at the end of the month and hopefully will then move on from this aspect as I was fully prepared for an inconclusive result.
yes sorry i did say in one of the posts that they stopped recruiting in march this year so if you werent enrolled in the trial prior to this then you wouldnt be eligible for a screening programme… i found out i was brca 2 in jan and would have been eligible but my genetic nurse thought it had already stopped recruiting and when i went back to see her it stopped so was only able to get ca125 through my GP.
if your in a programme then you should still continue the screening until the end of the period of the study.
also some health areas may have local screening but there is no National screening programme for ovarian cancer like there is with breast screening… but again your gynaecologist maybe sympathetic to your situation and do ad hoc TVU but this isnt the same as a screening programme.
Eliza i think thats really poor that you arent offered more support as no mutation is identified… all our high risk ladies still have the same contact with the screening and gentics service and the same access to the professionals regardless of the mutation outcome… it would only be if somebody had a negative predictive test… ie conformation they do not carry a known mutation in their family that they would return to population risk.
i have referred a number of ladies for further counselling and referral for prophylactic surgery who have no gene mutation found but based on the high chance there is a gene that hasnt been identified yet… however those who have had breast cancer are generally under the care of the surgeons and onc team rather than the genetics team so perhaps this a is a failing in the system.
BCC held a really interesting forum last year in london for women who had familial BC with or without a mutation and i would highly recommend going if they have another… which i sincerely hope they do… its lovely to meet others in the same situation and know your not alone out there.
Eliza - I so agree that the level of support is so heavily weighted to those with the identified brca1 or 2 (not that I’m saying they shouldn’t have that support)and there is absolutely nothing, certainly from my experience, for those of us where there appears to be a genetic link and all they can say is ‘It looks like there is a faulty gene in your family but we just haven’t identified it yet’. That’s what they said to Mum and myself at the start and we are both intelligent enough to realise there is only a small percentage of women with the identified faulty gene.
Apart from the bit of the letter I quoted above, the rest of it reads, ‘We have now screened blood samples from your family for gene faults in the BRCA1 and BRCA2 genes. To date we have been unable to detect any faults and therefore cannot offer genetic testing within your family.’
Mum’s letter was identical so it is obviously a set standard wording. We both felt there was a lack of interest in our testing and found that a bit of a let-down. I think we just feel we could have some reason for so many of us in the family getting it. Our blood samples were also sent to ICR in August after a referral (unknown to us) from Manchester and the ICR said they were looking at finding BRCA3. Sounds odd I know, but it would be good if they could find that one!
My oncologist and surgeon have given more support than the genetics service by a long, long way. I’m not sure whether to discuss a prophylactic mx with my surgeon but have a check-up there in Nov so I may just ask him as he is very approachable.
Please ignore my whinging - it’s the frustration !!!
Liz i had a very similar letter when i had my ‘mutation not found’ letter in 2007… it said along the lines of nobody in your family can now be tested!!!
and i though WTF, however i think its poor wording as they know what the mean but dont explain it fully in that because no gene has been identified they cannot look for a mutation in other family members because they dont know what it is yet.
as for the BRCA3… they arent actually looking for brca 3 per se but for any other genetic mutations which may be associated with cancer… so its not just one gene they are trying to identify but many… there has been some speculation about a brca3 gen which hasnt resulted in any significant increase and not enough to account for the numbers of people with familial cancers… the research for the brca 3 trial is ongoing and is looking for know brca 1 or 2 mutations and then is analysed and stored for future analysis so you may never here anything positive just that they havent found the brca 1 or 2 mutation which you already are aware of.
the criteria for the BRCA 3 trial is 3 breast or ovarian cancers in the family regardless of age of onset and whether 1st degree relatives or not so often the brca 3 trial is the first route available to many families who do not fit the stricter criteria for genetic analysis… the research study isnt so rigorous in its testing as the lab tests for brca 1 or two, and it hasnt so far reported back on any other abnormalities so i hope your not too disappointed.
what i would suggest is that you contact your genetic department to discuss the letter and what screening is available to you and family members and what other options you have eg risk reducing surgery.
I must be lucky, for want of a better word perhaps, but my area does independent screening. There are 2 large teaching hospitals here but whether this has anything to do with it?? Take Care All.x
I did want to go to that forum and actually registered for it but when they found out that I was waiting for my test results it was made clear to me that they thought I shouldn’t go. I was pretty miffed at the time but felt that if I pushed it I would end up being somehewre where I wasn’t welcome.
I wouldn’t particularly want to be part of a telephone support group (just not my thing), but I notice that is for mutation carriers only (even though it is called family History …)
I can see why you are unsure about just what they did and whether it looked at 100%, Liz. Mine is a more individualised report.
there was one lady at the FH forum who had an inconclusive gene test but significant history…
i think thats a real shame they didnt think it was suitable… lots of people have a significant family history with out have a mutation but they still considered to be high risk if they are eligible for gene testing then its because its thought they are likely to have a mutation… and as we know ‘no mutation found’ doesnt mean the same as ‘no mutation present’.
i think if they call the forum family history then they need to include women who have a family history and not just those who have a known mutation.
there a number of women whose family would strongly like they have an unknown mutation… and just because we dont know what it is doesnt make the risk any less… particularly in affected women who developed early onset cancer.