Help please BRCA neg

Hi, I have just found out that i am BRCA neg, following a mastectomy last June aged 39. Although my family history doesn’t fit the usual pattern (sister with breast cancer in early forties, Mum with stomach cancer, Dad with bowel cancer & grandmother with bilat breast cancer), we were still suitably high risk to warrant BRCA testing. I am not surprised the results were neg but feel very tearful & scared as I am still high risk and I am not sure where this leaves us regarding risk-reducing surgery. We have another appt with genetics to discuss possible further testing (P53 and Pten have been mentioned).I would love to hear from anyone who has been in a similar position or anyone who had further testing. Thanks x

Hi,

I have a strong history of bc in the family - my mum,her identical twin sister,their older sister,their only(female)cousin and then me. I was the youngest at diagnosis (42) and have been the only one with secondaries. So basically, my sister is the only female in the last 2 generations to have so far escaped - long may it continue that way. In May 2009, my mum and I had genetic testing at our request and the results eventually came back last October as negative for both brca1 and 2. There were no further tests/counselling offered to either of us by the genetics people - it was a case of sending a letter out saying the tests were negative and it could be that there is another gene causing the bc in the family but they just haven’t found it yet.

I have to say we were ‘disappointed’ in an odd way as it means there is no explanation for such a high number of females being affected. It’s almost as though we need an explanation for our bc, even though we are intelligent enough to know it’s sadly not that simple !!

So for now, we live with it, take part in any research if offered to us and get on with taking our pills !!

I hope you get some answers that will give you some peace of mind.

Liz

Thanks Liz.Maybe this is naive but I just feel that at least if you know which gene you have, then you can consider options to reduce your risk. I’m sure that being able to take some control helps rather than feeling high risk but powerless to do anything.

I too tested negative with a less than usual family pattern.

After I got the results I had a very good appointment with my genetic counsellor and she went through the implications, liklihoods etc. There was a good gap between the results and this appointment so I had plenty of time to think about what questions I wanted to ask her. There is also a sort of open door policy, so that if I think of anything else I want to ask over the next year or so, I can just ring up up.

Depending on what they consider your risk to be you may be offered various risk reducing opportunities. You might be able to get a referral to a familial cancer clinic (I got referred to the one at UCH in London).

I haven’t had any other testing as such, although I am in a study that is looking into other possible genes that could be implicated.

There isn’t a lot of support outside of the genetics service for those who have a family history but who don’t have a BRCA mutation.

I hope your follow-up appointment is useful.

Eliza xx

how i explain it is you arent BRCA 1 or 2 negative just that gene change has been found… this doesnt mean that one doesnt exist just that none has so far been found in your DNA…

they are doing lots of research and it maybe that something becomes apparent in future…

i was tested in 2006 through the BRCA3 research trial which looks for BRCA 1 and 2 mutations prior to the research as those patients would be excluded… no gene change was found…

3 years later when i got a contra-lateral BC i was tested through a different lab and came back for BRCA 2…

i dont have a ‘typical’ family either as im the only one on the gene mutation side of teh family with breast cancer.

i now work in breast cancer genetics screening and we see lots of ladies in the clinic from moderate or high risk families who do not have a gene change…

currently these women get exactly the same screening as those who carry the gene change.

there is a change coming as those with known mutations will be offered MRI screening as well as mammo but not all health authorities are implementing this so its possible that you would get the same screening even if you were found to have a gene change.

the p53 and Pten genes are less common and i only have one patient that i know of who carries one of these mutations.

about 80% of all breast cancer patients have no significant family history and of the 20% who do have a family history only 5% of them are down to a gene change.

only around 10-20% of all patients tested for a gene change are actually found to have one and this includes patients who are having predictive testing (ie testing because a family member has a known gene change).

if i can be of any help please do get in touch

Lulu xx

Hi Girls
I don’t have BrCa 1 or2 mutations but have an increasing family history of breast cancer, mum, sis, aunt, 2 cousins and me. I’m having a prophylactic double mastectomy with immediate DIEP flap recon in 2 days time, GULP! Definitely feeling twitchy! For me there is no choice, I can’t bear the thought of getting it again which is a strong likelyhood. Either they haven’t identified my defective gene yet, or there may be several defects,difficult to detect, whatever the case I’m not going to allow it to get me again. We’re playing by MY rules now! 90-95% better chance is what I’m after, nothing is 100% effective. I feel certain that another 10yrs will unlock the reasons why those of us who are BrCa negative are getting cancer. Bring it on!
Luv Nicky x

Hi Ladies, thanks for your replies.Nicky,I hope your surgery goes well, I admire your courage & understand your reasons for it.It must be a really scary time for you. Do you mind me asking who advised the prophylactic mastectomies? I asked the geneticist about whether I should consider it but he said no. He mainly saw the surgery in relation to reducing the risk of ovarian cancer, but in the absence of a +ve result he felt it wasn’t appropriate.I asked about a mastectomy in relation to reducing my risk of a contralateral breast cancer but he said research into the benefits of this had only been done on BRCA 1 & 2 carriers.I am aware from reading the forums that some women in my position do opt for a prophylactic mastectomy but it would be helpful to know of any research & also who generally advises it (geneticist? oncologist? breast surgeon?) Thanks

rosie

the docs arent really meant to recommend prophylactic surgery… we offer it but its by no means recommended… its up to the individual to decide if they want it or not… we have a nurse and counsellor who give the facts and offer psychological support before duringa nd after any interventions or surgery.

if somebody has a significant family history that would allow them to be tested this means they also fit the criteria for prophylactic surgery… but i know of people who dont have the family history but have argued for prophylactic surgery and got it based on their fears.

i would say that if you still feel strongly about it then the genetics people should offer you some counselling re risk reducing surgery… we wouldnt normally discuss the need for ovarian surgery if no ovarian cancers in the family unless they were a proven gene carrier… but again if ovarian cancers are in the family some women wish to proceed to oophorectomy +/- hysterectomy.

nicky good luck with your surgery.

Lxx

Hi Girls
The genetics consultant said it was something I should consider, but truthfully, it was my decision. I didn’t want surveillance and the stress. I watched my lovely sister die a miserable death. I want a stronger chance of surviving. My breast surgeon was happy to have a nibble when another lump arose. Not for me!

off to hosp in an hour !!! GULP

Nicky x

Nicky,
I had my results last week from my genetic test, by letter and was feeling lost. I do not have the BRACA1 or BRACA2 gene mutations that they usually associate with breast cancer, BUT I do have a “non specific” change to BRACA1 gene and they can not tell if this change causes cancer or not (mum, aunt & cousin all bc survivors not gene tested grandma died of ovarian cancer aged 49 ish).

I am classed as high risk so will be asking about prophylactic surgery, according to my bc nurse I have done everything possible to prevent another cancer happening elsewhere (op, chemo, rads & tamoxifen)but if I have a gene mutation, what is the chance I might get bc again ? - no one can tell me as my change is not a common one and they do not have enough information about it yet, So, I’m with you, wishing you all the best and hoping your op went well

Tracey xxxx

tracey if mum, aunt and cousin have all had bc its worthwhile chatting to see if they would be willing to get tested for the change in your gene… it could be that its not known as a pathologic mutation… i have come across similar where a gene of unknown significance is found and then at a later stage it is found that others with the same gene change have developed cancer so its redesignated as pathologic rather than unknown significance.

if your other family members have the same gene change it may be that it would be considered deleterious so it maybe worthwhile having a chat with other family members about this… if they want to have a gene test that is.

Lxx

Hi there
Got back home on saturday after 1 week in Charing cross hosp. Couldn’t have been better cared for. Plastic surgeon is amazingly good. Have now got lovely healthy boobs made from my tummy fat and a flat stomach! Sure I’m a bit sore and bruised, but nothing that paracetemol and ibuprofen can’t cope with. The best news is that my old boobs had no malignancies but plenty to keep everyone busy in the lump dept, fibroadenomas galore, microcalcifications to name a couple. I would have been forever finding lumps. It is such a relief for me to be without the worry. I think I have been so fortunate to be able to go to sleep with the old boobs and to wake with some new ones, not traumatic at all!!!
Nickyxxx

great news nicky glad all went well

Lxx

Great to hear you are feeling so positive after your op. It’s interesting that they found fibroadenomas, as I had one 2 yrs prior to my breast cancer (which occurred in the same area) but was told they are benign & therefore could be left alone.Hope your recovery goes well, be kind to yourself.

Hi there
Yes I know they wouldn’t bother with fibroadenomas but finding lumpy bits would freak me out nonetheless. They also found ductal hyperplasia which is a bit more worrisome as I understand it means you’re at higher risk of something nasty.
Still can’t shake off the feeling of utter relief.
Walked for an hour and a half today, did a couple of shops, glad to be feeling more and more normal!
love Nicky x

hya all. here is my history so far,
my twin sister died of bc i 2009 age 39 yrs, my mom died in 1992 of hodgkins disease, brain and throat tumours, all but one of my moms brothers or sisters have died of different cancers, one cousin od ovarian cancer at 23 yrs old, i have a high risk of cancers according to the genetics doctor at Birmingham womens hospital, have a very lupmy and leaky boobs for years, had a hadfields operation Jan 2010 to remove enlarged ducts that were constantly leaking, i am living in total fear that i to will have bc, i have sort of got to the point where i dont like to check myself because i find i have very lumpy boobs and would constantly be on the phone to breast history clinic nurse, i was then poorly in hospital in Jan 2011 and found to have a cyst on my ovary, i had an hysterectomy ten years ago but they left my ovaries, they are now going to keep a close eye on it as this could turn nasty, would you please help and let me know if i am just being to over the top, xxxx

Hi, no you don’t sound over the top at all, having a family history of cancer is really scary. When you saw the genetics dept did they offer you any testing eg BRCA 1 /2? If you were able to find out if you have a specific gene it may lead you to choices regarding risk-reducing surgery. Are you being monitored for breast cancer by mammograms or MRI’S? Sorry not to be more helpful but I hope others can addvise too.

as your sister was in her 30s you would be entitled to early screening of at least annual mammography between 40 and 50.

i think its natural to be worried when you have a family history… as for testing this may not be available if there is no affected living relatives.

you say you have a breast history clinic nurse but perhaps it would be of use to speak to the genetic specialist again to find out what your options are… some people who are high risk but have no living relatives to be tested do sometimes opt to have prophylactic surgery if that is something you feel strongly about i think it would be good to discuss it with your genetic team.

Lulu x

hya lulu & rosie
i do have yearly mamos and yes my sister did leave a blood sample to be tested, the genetics doctor has told me that i have to have at least 2 or more relatives with either bc or ovarian cancer to be tested, i think im going to ask breast history clinic for a referall, my elder sister also has a genetic mutation for something called MEN syndrome, hope you are all keeping well. xxx

hi there mardijane

if your sister has blood stored then i do not see what the problem is with testing it espeially as you cousin was so younge when she had ov ca and although not directly related if your cousin was related through individuals who also had cancer even if these were not traditional BRCA 1/2 associated cancers i think it would be worthwhile pushing this further if its something you wish to pursue.

there is a scoring system used in assessing risk and other cancers related are prostate and pancreas and 20 is seen as the minimum cut off in many clinics. but even without any more cancers your sis has 8 points and cousin has 13 giving a total of 21 however normally they have to be fisrt degree relatives of one another. one other route that may be an option if the direct relatives have all had some kind of cancer is to ask your geneti team to contact the ICR who are doing the researh into BRCA 3 and see if they would consider taking a family such as your on with your sisters stored blood… although depending on what kinds of cancer are in the family it could be that they are related to the MEN gene mutation.

Lulu x