I was diagnosed with tripple negative at 29. There is no family history, but my Grandad on my mothers side is Jewish. There is apparently more chance of a mutation amongst people with Jewish herritage and because of my age they are willing to test me for the Jewish mutations. However they can’t do the tests for the other mutations as there is currently no funding for that due to no family history ect. I really don’t know what to do now. If I have the test it may come back clear for the Jewish mutations but it doesn’t mean I don’t have one of the others. If it does come back with one what do I do with that info. Mastectomy, Overies removed?? I don’t know if I’m strong enough to deal with the consequences of the results but I’m also not comfortable to stick my head in the sand. It feels like it’s not worth having the info if I then choose to do nothing with it. Also as I can’t have the full test it feels like it’s not a properly informed decision.
I am so confused. I spent all my time to worrying about what this would mean for my sister and mum and didn’t really think about what it meant for me.
Any advice would be great. I finished my treatment in 2010 and all this has just brought it all back with a massive thump.
Kelly
Hi Kelly,
Sorry you are having to deal with this uncertainty and worry.
I have copied and pasted this link as I am not really sure why you cant have a ‘full’ test. It was from an old threa. Lulu is very knowledgeable in this area, and I am sure she will be able to offer you advice about the process and what is involved, but in the meantime:
Below is a link to a cancer research press release saying that all under 50s with TNBC should be offered BRCA1 test.
info.cancerresearchuk.org/news/archive/pressrelease/2012-02-14-more-breast-cancer-tested-BRCA1-gene
I wonder how confident you are about your info re. family history.? I say this because I was initially told that I was at a low risk, but in fact had little information about family history so this was misleading because I inherited it from my father who is healthy and well. In fact, further back there was a much more significant history than we knew of.
In terms of going ahead with testing, it is a big decsion. Not right for everyone. I would say your reaction suggests you are someone who will want to know if they can as you have come here for info. and it is playing on your mind! Some people prefer not to know so for example, I am brca1, but my sister is not sure if she wants the test even. Its a very personal choice. No right or wrong and it has the potential to affect everyone in the family if a mutation is found.
There is alot of support if someone ha a brca diagnosis, re. options etc so the only way to cope is by taking it one step at a time. Try not to rush too far ahead.
Take care, Rattles x
Hi Rattles.
Thank you so much for your reply. We are quite sure about the family history. They say that there just isn’t the funding for the full testing but that may change. I’m only getting any testing at all because of the Jewish heritage. If I didn’t have that I wouldn’t get any testing due to no family history.
Have you gone ahead with any preventative measures as you are Braca 1? I feel like I’ve openned a total can of worms because I encoraged my sister as I just wanted to make sure she got the right support, eg mamograms. It would break my heart if she got it. I know the tests don’t stop it, but if it happens I want them to catch it early and not fob her off.
Thank you again for your help.
Kells
hi kells the icr also recommends offering tests to all women with TNBC under age 40… the brca1 under age 50 debate itsnt in a guideline but recommended through research but unsure of anywhere that has actually implemented it yet… however you should def be offered testing according to the icr criteria…
actually i tell a lie i see the ICR have updated their protocols in may to women under 50 with TNBC
icr.ac.uk/research/team_leaders/Rahman_Nazneen/Rahman_Nazneen_Protocols/Protocols/22778.pdf
Hi Kells,in 2008 i started having mammos aged 47 because my mum and my aunt both died from bc at a young age.I asked for the genetic test but because i had no living relative it couldnt be done.two years later i was diagnosed with bc. because of this my daughters were able to be tested.one daughter was negative for brca 1 and 2 and the youngest was positive.She has just come home from hospital having had a double mx for preventative reasons,so although genetic testing didnt help me it has certainly helped my daughters and my neices and nephews may also be tested if they wish in the future.Good luck to you.xx
Di.x
Kell, I am outraged on your behalf that you are not able to be tested because of funding. Esp when the thread says all women under the age of 50 with TNBC should have it!!
You asked about what I did, I did have bilateral mastectomies and reconstruction but my story is not over yet! I worry about sharing this as I really know how representative my experience is. If you really want to know, then say, and I will explain. What I would say is that the whole process opens up lots of uncertainty and even if you have a brca mutation, the information available is not as precise as you might want. Its also about how you love with the knowledge that you have a significantly high risk of developing breast/ovarian cancer. Lots of people see this as a chance to take action to protect themselves, but not everyone feels like this.
There is a really good publication which breakthroughforbreastcancer produce, and I have a couple of links from cancer research which I can (try) and post. Lulu is fantastic and can answer any questions though.
Rattles x
If you would share your story with me I would be greatful, but I understand it’s personal so don’t feel you have to. Could you send it on an e-mail to me. I know that even a full mastectomy is no guarantee. I am hopeful that my hospital are about to start a trial for MRI scans for young women as they are more sucessful than mamograms for young women. So that is something to help catch things early I suppose.
I feel like this is all I can think about now, my life is all over the place at the momment. I haven’t even talked properly to my partner yet as I can’t wrap my head around what to even say.
I just really feel that even if they test for the Jewish mutations and they come back clear, what does that give me as I wont have had the full test. I just really don’t know if I’m strong enough to face more bad news if that’s the way it goes. However I really am not a head in the sand kind of girl and I want to be around for as long as I can be.
Thanks for your help and support.
Kells
Sorry Rattles I meant to put your name in there so that you knew I was asking for your story. See my brain in mush.
Hi Kells,
I dont mind sharing on the forum as it might help others but you can PM me if you have questions.
It is very challenging to be faced with such a big worry about the health and well-being of yourself and your family.
I was diagnosed with a TNBC in 2009. I was 40. It was grade 3 with 2/4 lymph involvement. Had chemo. Then WLE. Then rads. Saw genetics at the end of my treatment - March 2010. Did not qualify for brca testing based on family history. Took part in a research study which was looking to find new inherited mutations. Got results a year latr - May 2011 - this confirmed I had a brca1 mutation.
Later found out that had significant history of breast or ovarian cancer in paternal family.
I was very shocked. Not what I expected. Only positive was it explained why I got cancer. Didnt want more surgery. Lot of heart-ache. Researched and talked to consultants, other women, read books. Decided to have prophylatic mastecomies and then ovary removal after this as I wanted to know I could take HRT.
In Feb 2012 had BLM operation. The tissue biopsied found tumour in ‘other’ breast. This was not visible (ie not missed) on MRI, mammogram, ultrasounds so ‘an occult’ tumour. So a good decision. Had lymph clearance. Now on chemo. Then had to have one implant removed due to infection (I did warn you! Not a shining example of how things should go!) But, having the BLM surgery meant that the cancer was found early and I have a good prognosis.
Like I said, my sisrters are undecided what to do, either re. testing, or re. surgery.
Hold on to the fact that you can be tested for a mutation that is relevant to your situation (you say you are sure about your family history, and with brca there is (usually, but not always) a striking history.
Maybe, seek advice about your risk from your treating team re risk-reducing surgery? Discuss concerns with them?
The process of genetic testing is lengthy and you are well-supported so no need to panic. It isnt like a cancer diagnosis. You will be able to talk issues/feelings through with a counsellor, even if you decide not to have test.
Lulu can explain this better than me, but basically as I understand it whether you have a mutation or not. your immiediate relatvives ( ie sister) would be considered at greater risk and therefore eligible for testing, so dont feel pressurised.You have to do what is right for you.
There are some wonderful women you can speak to at BCC, on the helpline, or one-to-one service. They could talk through their experiences with you and help you work out a plan.
Let me know if I can be of more help.
Rattles xx
Hi Kells
Had my lump removed earlier this week and am currently going through genetic testing/counselling. I remember very distinctly being told by the very well informed (and very young!) geneticist that for the BRCA gene to have the Jewish “factor”, you will have to have all four grandparents being Ashkenazi Jews. Ashkenazi Jews are those with ancestry from north-east Europe (Poland, Russia, Lithuania, Latvia, and so on). Having anything less than all 4 grandparents being Jewish will not mean that you don’t have the BRCA mutation. You may still have that mutation, as it does exist in other areas of the general population. It’s just that it’s noted to be more prevalent amongst those with a 100% Ashkenazi Jewish lineage.
Hope that makes sense!
x
Thank you so much Rattles and Secretsock for your information. Rattles I am sorry to hear it about your implant. I know that there is no perfect solution but want to get all the information I can before I make a decision on going ahead with the test. Are you able to have another implant in or is that not possible. I am glad that your prognosis is good.
Secretsock my grandads parents where Polish Jews. But it is only my Grandad with this heritage, but they said to me it was still possible as that’s what they would be testing for. I will have to ask about it some more. As it happens I keep coming up with more questions I would like to ask.
Thank you again for you time. I wish you both well.
x
can i just correct something that secret sock has mentioned… you dont need to have all four grandparents being jewish as the 3 jewish founder mutations can be carried by any single person so Kells you could be tested for these mutations from the start if they were willing to only test for the jewish mutations if one of them came back positive that would be the most likely cause of the cancer in your family.
rattles mentioned a research trial i was also tested through this trial but mine was doen earlier on when the technoiques were not as robust as nowadays and tested negative through the trial but positive through the labs… the research now does the same testing as the labs and the criteria for the research is either one individual with bilateral breast cancer or 3 individuals with breast or ovarian cancer… the trial is called the genetics of familail breast cancer and is looking for new genetic mutations and in order to do this they would rule out individuals with existing mutations.
in terms of your family… sisters, daughters, mum would would all be at a moderately increased risk of breast cancer based on your diagnosis and would be entitles to easly screening of annual mammograms between 40 and 50… if you were tested and found to carry a gene change your family could then be tested to see if they also have it… if they do have it their risk would increase to high risk of breast and ov ca and if they didnt have it they would have the same risk as the general population… also if you were found not to carry a gene change you would be at the same risk as anybody else with your type of bc.
even thogh TNBC is associated more so with BRCA mutations 80% of wpomen with TNBC under age 50 will not have a genetic cause, so its still more likely to be unlucky chance.
think you have plenty of info to take back to your genetics team and see where to go from here.
Lulu xx
Hi Lulu… thanks for that. I was probably a bit still post-anaesthetic woozy when posting my reply and it’s quite likely I got it wrong. The whole BRCA/genetics issue is incredibly complicated… my meeting with the geneticist was like an A-level biology class!