Hello, I am new to the forum and hoping to get some advice.
My mother, grandmother, great grandmother and my mums sister were all diagnosed with breast cancer at an early age and all sadly passed away before the age of 50. I really want to have genetic testing done but there is no known relative to take a blood sample from. I am aware that you can having private testing done so i would really like to hear from anyone that is in the same situation as me or anyone that has gone down the private route.
Many thanks
Hi Baconbutty,
I’m not in the exact same situation but am thinking about private testing. I was diagnosed last August and since February have been trying to get a referral on the NHS. My sister has done the family history bit and wants the test, but her local genetics service won’t test her till I’ve been tested. But my GP twice seems not to have referred me. I am trying via my BCN but would be interested to hear if you learn more about private testing.
lisa xx
Hello there,
I am sorry I can’t help on this, but wanted to suggest you read Lulu’s comments on the next thread as she highlights the issue with genetic testing done privately, which if I understand correctly suggests that a ‘negative’ result may not be a true negative. Just wanted to highlight this in view of not only the financial cost of the test, but also the emotional cost.
Good luck, and am sure others would be interested in how you get on.
Rattles, x
Thank you both!
Lisa, if you have been diagnosed and there is a family history of BC you should get genetic testing through the NHS. It sounds like your GP is acting on this - is there another GP at your surgery you can speak too. Is it worth asking your sisters local gentic team to see if they wold test you?
Rattles, I did read throught the previous thread with much interest. I am aware that it can be inconclusive which makes me keen to speak to someone that has gone down that route, particularly if they had a negative result. I’m really anxious at the moment but am waiting to hear back from a couple of private clinics.
x
Baconbutty - have you asked your GP? I reckon he’d refer you with such strong family history.
Rattles - my GP gave me a long form to fill in which he then forwarded to Clinical Genetics Dept at hospital. I think you should go back and ask again!
Its a long wait for results tho - it’ll be 13 weeks this Friday since I had the blood test (have phoned twice + oncologist has chased up but no joy).
Hi Baconbutty,
Thanks for your suggestion, I will get in touch with my sister’s team at Addenbrookes. I did check with my GP and he definitely referred me, so I wonder if it’s my local hospital being slow.
Part of me doesn’t really want to know whether or not I have a BRCA mutation. If I do it’s then more worry about recurrence and whether to have a prophylactic Mx, but if I don’t then I will feel guilty that it was somehow my fault I got bc in the first place. Plus if I do have it and my sister doesn’t, then I think I’d find it hard not to resent her for getting the lucky genes!
This disease really does keep on giving…!
Lisa xx
Teej - can you just clarify your situation for me. Have you been diagnosed with BC? If not, has blood been taken from a relative to test before testing yours? I’ve been referred to the BC family history team but they say I can’t be tested on the NHS as there is no relative to test against and at present I do not have BC (although waiting mamogram results).
Lisa - my sister has no desire to find out, everyone is different. I’m desperate to find out but I have already decided that if I do have the mutation I will have Mx, for me this has been a fairly easy decicision. If your sister didn’t want to know, would you still push for the genetic testing do you think?
x
I just wanted to post my experience in case it helps: I saw genetics about 4 months after the referral (its a very long process), and just when I finished my treat for breast cancer. I was thought to be a low risk, but as I was triple negative I was offered the opportunity to take part in a research study, and did. A year later, I got the results- I had a brca1 mutation. By a process of elimination (my mum got tested, 6 months later, a negative result), we establshed it came from my father who I did not grow up with and I did not know the extent of breast and ovarian cancer in his family.
I remember very clearly that I was ‘the key’ - so my sisters could not get testing until the results of my test. I knew I wanted to know, so the issues are different, but as we could not have got my father to agree to be tested, it put alot of pressure on my mum, who I don’t think would have wanted to know. She agreed, really, for her family. It puts alot of pressure on the family and one of the reasons to go through the genetics clinics (albeit, very slowly) is that they do supoort you through the process.
Baconbutty, I am not sure if you have been seeen yet, but I would have thought they would give you a good idea of your risk based on your family history. This will inform their outline of the options- I think what I am trying to say is that the options open to you may not depend on the result of the test- for example there are women with mutations not yet known, and yet they will be treated as having high risk e.g. risk-reducing surgery.
Hope this helps.
Rattles
Thanks for that Rattles. I have been seen, have been told I have a 50% chance of having the mutation. I am waiting for the results of my mammogram and am getting booked in for a MRI too. I am being classed as high risk and from what I can understand I am still able to have risk reducing surgery although (at the moment) there are no signs of cancer). Ideally I would like to have the testing done before I make any decisions.
x
Hi Baconbutty,
It is actually my sister who is driving the genetics and family history screening. I must say I do feel somewhat pushed into it as like Rattles I am key to allow her to get tested. There are no other bC survivors in the family, although i don’t think there is a strong history - mum, nan, greatnan etc on mum’s side all cancer free; my dad’s side has a bit of BC but sadly my aunt (i.e. dad’s sister) passed away a couple of years ago BC.
If I carry the mutation I would go for the Mx, but mentally/emotionally I am not ready to know if genes were not the likely cause of my BC. I am dealing with a number of other health issues on top of BC, physical as well as mental; I sometimes feel my sister is being a bit selfish pushing the issue - although I do recognise the benefit of BRCA testing in regards my own BC and the risk of recurrence.
Lisa xx
Baconbutty - yes, just finished treatment for Triple Negative. Like Rattles, I know very little about my father or his family so may well be from that side as mothers side has very little cancer.
I have found treatment very tough and will do anything to avoid going through it again, so would opt for double mx & ovaries out if positive - likewise I would like to give my siblings/kids a chance of prevention if possible.
I had hormone pos bc in the right then Triple Negative in the left 3 years later… Originally tested neg in a research trial after the first Bc based on family history… Mum had bc at 57 and great gran also had Bc. Then was tested at the gentic lab after the 2nd one and it came back positive for BRCA2.
Mum tested negative, but dad tested positive… Although no family history of BC on dads side.
baconbutty looking at you family history and the criteria for testing if some of your relatives were alive they would almost certainly have fitted the criteria for testing. http://www.icr.ac.uk/research/team\_leaders/Rahman\_Nazneen/Rahman\_Nazneen\_Protocols/Protocols/22778.pdf
but as you know they need an affected person to test in the first instance… even in families such as yours only around 50% will carry a gene change and you would half this chance… 50% of genes from mum and 50% from dad so id imagine your risk of carrying a mutation would still be relatively high at about 25%, but that would mean statistically you would have a 75% chance of not carrying a mutation… If you have a mutation though its still 100% of YOU! In the general population around 1 in 400 people carry a mutation and just over 5 out every 100 breast cancer patients carry a mutation.
However having a mutation does not mean you will definitely get cancer… Just like not having a gene will not definitly mean you wont get it.
i hope your mammograms are normal
Lulu34,
Your post was very interesting to me, thanks for sharing about your family. My BCN said its maternal family history tnorm they normally worry about, so I think she was trying to tell me I probably don’t have the mutation - or that my bc was just one of those things. There isn’t any bc on my mum’s side as far as I can remember; my dad’s sister sadly died recently in her 60s from bc, and I think another member of his side had it in later life.
As I’m only 33 and my sister 30 she is flapping that she might be high risk; she did some digging into family history with her local genetics team; they think we have enough family history to warrant testing and so she wants me to get the BRCA test so she can then have one. Bless her, when I talked to her recently about my next mammo, she said she thought my having one was pointless as I’d had a load of scans last year before treatment… As if having cancer once has somehow made me immune to another tumour! Or perhaps that the BRCA status was definitive in regards to getting cancer again - I will show her the comment you rightly make in your last paragraph! 
I am seeing the family history people at the hospital next week so will see what they say. About family history and testing, not a mammo being pointless!
Lisa xx
Glad your still going ahead with your Mammo. Fingers crossed its normal but it was at my 3rd year follow up Mammo they found the second tumour. So it’s def worthwhile going. I prob wouldn’t have noticed it myself until it was a lot bigger.
as for testing I was totally certain I wanted to know so it wasn’t a problem for me getting tested. But I think if your uncertain its really best to talk it through and don’t feel pressurised into doing something your not ready for… Yet! You may change your mind down the line.
Although I have a mutation I haven’t had risk reducing breast surgery. I had lumpectomy to both sides and an excision of a recurrence but still have my own breasts but had my ovaries out and a hyst after I found out I carried a fault. Mastectomy is still possibly on the cards but not yet.
let us know how your appt goes.
btw fathers side is just as important as mums… Half your genes come from your dad… you have the same risk of inheriting a gene fault from your dad as you would from Your mum. Men Rarely get Brest cancer and never get ovarian cancer so it sometimes hides the facts.
Xxx
Thanks Lulu,
Good point about dad’s genes and incidences of breast and ovarian cancers! I’d never thought of it like that
I can certainly see benefits to having the BRCA test, but also quite a few negatives. I’m not sure I want to know, but feel I owe it to my sister - even if it doesn’t give her any certainty. Her genetics team are recommending enhanced screening for her anyway, so I don’t see how the result will change this, unless she decides on an Angelina (she was children so will need her ovaries!). I just hope for good news and that I just have to accept my bc was “one of those things”. With my comorbity I don’t want to have any extra surgeries if I can help it. I don’t feel up to it at the moment, in any case. How much of a bc risk reduction comes with an ooph/hyst?
I will let you know how I get on next week.
xx
Having an ooph is thought to half your risk of getting BC in the first place in gene carrers or those at a high risk and reduce your risk of ovarian cancer by about 90%. Dont think there are any figures on how much it reduces your risk after bc… But in women with a gene change they have a much higher risk of cancer in both breasts… Think its 5% chance of bc in both breasts in the general bc population but over 50% if your a mutation carrier so it would hopfully significantly reduce the risk of a new cancer, but maybe not have as much of an effect on recurrence of an existing cancer.
i had a recurrence of TnBc 11 months after my ooph and hyst but maybe i was just a 1 in 1000 chance.
fingers crossed for you x
Thanks Lulu34,
You have given me lots to think about and quiz the team next week when I see them!
Fingers crossed for you too,
Lisa xx
Evening Ladies, I have just been reading through this thread and found it very interesting and a font of knowledge. I was diagnosed in February and had my WLE and SNB in March.I am TN. My 30 year olddraughtier came with me for the results and it was my surgeon who brought up the need for genetic testing as my mother also had BC. I received all my paper work this week and have sent it all off as I feel I need to for my daughters. My eldest daughter is very concerned and wants to know what her risks are, which is understandable, but I also have a 12 year old.i just feel its something I must do for them, and if found pos I will have a double mastectomy.
I would like to thank all you Ladies on your knowledge and passing it on.
Really interesting reading all these posts. Just to update. I have now been referred through the NHS to a genetics team in London. My nurse has said it is very unlikely that I will be tested on the NHS but they will be able to give me more information about having private testing and what the ramifications are. It may be months before I get an appointment but will keep you all updated.
Still waiting for mammo results - have been told it could be around 6 weeks as they are very short staffed at the moment! I have MRI booked for Monday.
x
Hi Baconbutty. In case you’re still reading this thread, I just wanted to let you know that NICE have just issued new guidelines that should allow you to be tested on the NHS. I have a strong family history of bc, but no living affected relatives who are willing to be tested. I’ve been referred for genetic screening despite having no cancer diagnosis myself, have had the blood test and am currently waiting for the results - they’ll be at least 6 weeks as because I’m the first in my family to be tested they need to do a full screen and not just look for the known mutation. Genetics specialist said I was the first she’d referred under the new rules so if you want testing make sure you push for it. My history is not as bad as yours so if I qualify I’m sure you do.
Just do be aware that there’s a high chance of an indeterminate result like a minor mutation where they don’t know whether it’s harmful or not, plus there may be mutations in other genes causing your family history that they don’t yet know about, so you may not feel much relief if it comes back negative. That’s the main problem in testing someone without bc first, your decision afterwards may still not be clear cut. Make sure you talk through the ramifications of all possible results with the councellor before deciding what’s best for you.
All the best
X