Hi, I’ve just recently had a blood test for the above and have an appointment at the end of January, presumably to discuss results. Can I assume that because it’s until the end of January, that the result was negative and that I do not have the gene mutation(s)?
Am I clutching at straws?!
Be interested to hear your experience when being told your results. Very much looking for some assurance!
Thank you.
Naz
Hi Naz,
In my area, the fact that it is end January wouldn’t mean much. Because of that, I managed to negotiate in advance getting my results by post and then an appointment to discuss them (appt was about 3 months after result letter). They were prepared to agree because I’d already been dx with breast cancer.
I wanted my results before the appointment so that I had time to take it in, discuss it with family and formulate the questions I’d want to ask. In the event they didn’t find a mutation, but I still had a lot of questions! My feeling is that if I had received the result at that appointment I would have wanted another one to discuss it once I had had a chance to think about just what I wanted to know. I think I would also have wanted the opportunity to discuss it with family and for them to think about what questions they had.
I was told at the appointment that if I thought of anything else I could get back to them. I didn’t, but the fact that I could was very settling for me. The appointment was an opportunity for me to discuss the risk and my options for managing it in future.
Feel free to pm me if you’d like more info.
Eliza
Naz my clinic often makes appointments in advance for when the result is expected to have been received… It usually takes the same length of time whether its positive or negative result… Ii could also be at the end of Jan as the clinics are often reduced over the Christmas period too.
Why not have a think about questions you may have if it’s neg and questions you may have if it’s positive… It may also be useful to take somebody with you as two sets of ears are often better than one for taking in information.
My appointment was the end of Jan 2010 and I was found to have a brca2 change… It was quite a surprise to me as I’d previously been tested with older techniques and was neg so was expecting still to be neg… Think my genetic nurse was pretty surprised too.
Lulu x
Hi
I was tested in August and got my results at the beginning of November. My family tree suggested a genetic cause but non was found. My genetic consultant still thinks my cancer is v probably genetic, but just that they have found yet. She was able to give my statistical risk of getting a new primary cancer anyway. Despite the negative test.
Debx
Thank you, Eliza, good suggestion, I think I will give them a ring so I can be prepared but, yes, Lulu, I didn’t think that they could just be thinking ahead!
It was just a bit of a shock - I also received the appointment at the same time as I received an appointment for a PET/CT scan and just panicked that they had found something.
I don’t have a strong history of cancer in my family - my paternal aunt died of ovarian cancer in her 40s - but there is a suggestion of some Jewish ancestry on my father’s side.
Thank you for your help.
Naz
Naz
There are two ways in which you can be assessed in terms of genetic risk… One is the number of people affected in the family and the age but the other is using the Manchester/Evans score… Your aunt gets 13 points for ovarian under age 60 and you get 8 for BC under 40 giving a total score of 21 and 20 is required for genetic testing… So although you don’t have loads of cancers you have a higher score and therefore risk than some body with 6 aunts who got BC at 61.
Lulu xxx
I was in a similar position, Naz. Ovarian and prostate cancers at young ages pushed up the score into the testing bracket rather than there being a large number.
Eliza
thanks, Lulu, that’s really helpful. So, irrespective of my ancestry, I would have been tested anyway.
But they didn’t find a mutation, Eliza, which is reassuring!
n
Based on your aunt and your own diagnosis if you attended my clinic you would probably have been offered testing… It’s not compulsory though and some people who fi the criteria choose not to be tested.
In terms of finding mutations only around 20% of those tested (ie high risk) test positive for a mutation… So your still more likely not to have one found.
Also some people have whats called unknown variants these are changes in brca 1 or 2 but where there is no documented cases if cancer with these change so its unsure whether they actually cause cancer or not… We treat them the same way as somebody who isn’t found to carry a gene change.
Where no gene is found it doesn’t lower your risk it remains the same as it did pretesting… So usually means you are still high risk… Where a gene is found this would change to being very high risk.
Lulu x
Hi
I guess protocols vary depending on different specialists/clinics. I have BRCA Variation of Unknown Significance but NOT been treated “the same way as somebody who isn’t found to carry a gene change.” (but I’ve had breast cancer so that’s maybe where the difference is). I have been put on an enhanced screening programme, have had a prophylactic bilateral salpingo-oophorectomy and offered risk-reducing mastectomy on my unaffected side.
We wouldnt normally recommend surgery unless there a family history of bilateral BC or ovarian ca… If the gene is a uv then there treatment is based on family history… And some women will still opt for bilateral mx based on that.
It’s quite interesting as there are such set guidelines on getting pathological diagnosis but very variable guidance on UVs…
The reason they dint recommend surgery here is that it could come back in a few years time that it’s been found definitely not pathological and somebody could have undergone some radical surgery for no real risk… But I’m sure they would have discussed this with you before you opted for surgery.
Lulu
My goodness it’s complicated isn’t it? I have been referred to a genetisist but haven’t yet had the test done. My greatgrandmother died of ovarian cancer in her 40s, my grandmother in her early 60s of breast cancer, my aunt of breast cancer also in her 40s, my sister of breast cancer at the age of 45 and now I have been diagnosed with Grade 3 TN at the age of 58. All of the above were on the maternal side. I have 2 daughters and my sister who died has 2 young daughters so I feel very apprehensive about the implications of the test for them. It could open up a box of worms really but, then again, if it came back negative it would be reassuring for them. I go round and round in circles thinking about this. BBB
Just a word of caution to you, Blondbutbrainy…
You say “if it came back negative it would be reassuring”.
Genetic testing isn’t necessarily as simple as “yes/no”, “negative/positive”. There are grey areas in between and you could wind up with more questions than answers - I have.
Yes thank you for that. I think they will give me counselling prior which might guide me a bit better. I agree that it can give really ambiguous results but I thought that if I came back negative it could be better for the girls.
Yes, I see what you mean but if you have an ambiguous result (such as a genetic variant which is not proven to be pathogenic but could be…) then you will be no further forward. Just sounding a note of caution as I blithely went ahead with screening and the genetic ‘counsellor’ didn’t counsel me much and I do sometimes wish I’d never flippin’ bothered.
Wishing you all the best. Hopefully, with or without genentic testing your daughters and nieces will have earlier and more thorough (varied) screening than the general population (e.g. mammograms from earlier age and MRIs too).
Im awaiting my test results.did it 2months ago n hopefully will get results jan.
Im 42 with bc.mom age 66 bc then stomach cancer age 68 great aunt pancreas cancer , nan hodgekins lymphoma. So o got enough family members to be tested
Xxx at the qe in brum
BBB
If you have a full genetic analysis you don’t or at least shouldn’t get a negative result… You can get a positive result, an inconclusive result or no gene mutation found… This isn’t the same as being negative… It just means that with the current techniques and knowledge we have at the moment we cannot find a gene change…
This happened to me as I was tested in 2006/07 and no mutation found but retested in 2009/10 and was found to have a Nonsense mutation in the brca 2 gene.
As PWC said your daughters and nieces should get Mammo screening from about age 35 even if no gene is found… If a gene is found then they should get an MRI as well.
Obviously this is the current guidelines and could change by the time they reach the age to get screened.
Poppy good luck with your results.
Lulu x
Thanks Lulu. I think I understand a bit better now. My daughters and all involved will be ultra-vigilant now in any case because of my situation and the family history and I am wondering if this means I shouldn’t go the genetic testing route at all as it seems to raise more questions than it answers. One of my daughters is 30 next so I was hoping that her mammogram checking would start sooner rather than later. I would be grateful for your opinion. Best wishes BBB
BBB
Your genetic counsellor should explain the pros and cons of testing and it’s limitations… You can then decide whether to be tested or not.
Some people just don’t want to know… My daughter is 20 and has no interest in getting tested at the moment but may change her mind as she gets older.
You can discuss it with your family and see what they think… Sometimes people prefer to know as it can help make decisions like having risk reducing surgery… Eg if your analysis shows a mutation then your daughters and nieces can be tested for the same change.
If they do not have the change then this a negative result… That is they do not have the gene change known to cause cancer in your family.
The testing for affected family members like yourself is different than for non affected members.
For affected people they do a full analysis… That is like looking at every word in a book trying to see if there is a spelling mistake…
For non affected people somebody will already have tested positive in their family so they know where the spelling mistake is so they can look at page 300 line 6 word 4 to see if it’s spelt correctly… If it is then they have the same risk as the rest of the population… If they too have the same spelling mistake they are at an increased risk.
Hope that kinda makes sense.
Where somebody had a known gene change enhanced screening is recommended usually from age 30-35 and includes Mammogram and MRI (although many places haven’t set up MRI programmed yet) these should be annual or every other year till age 50… From 50 onwards it is usually Mammo only but more frequently than the three year national programme… We do 18mthly.
If people choose risk reducing mastectomy they don’t need screening as the breast tissue has been removed.
If no change is found in you then they cannot test your daughters as there is no change to look for… This would mean based on your family history they would still be high risk so would get early mammos but not MRI. They could also still have a discussion about risk reducing surgery although many places are reluctant to do such surgery based solely on family history as in the future a change might be found and they may not be carrying it.
For example if no family members are alive to be tested but one person wants surgery as they are just so worried about getting BC or OC and they have surgery… A few years later after her surgery her sister gets BC and is found to have a gene change and they test the one who had the surgery and she doesn’t have the mutation how does she feel after having had such radical surgery ?
For ovarian cancer risk there is no screening programme so the recommendation is to have your ovaries removed around age 40 or after you have completed your family.
It does bring up lots of questions and hopefully you would be fully counselled before hand to explain all the implications.
Lulu xxxx
That’s brilliant Lulu and a wonderfully clear explanation. Thank you so much.