Risk reducing surgery and genetics

Hi ladies, i would like to find out what people’s experiences are as far as risk reducing surgery, i have had bc and am 46, i had a WLE and full node clearance in march, i had 6FEC chemo and have completed 14 of my 20 sessions of rads, then i will be on Arimidex for 5 years.
My mum, her mum and her mum’s sisters all had bc before the age of 45, i was 45 at diagnosis, i am due to see the genetisist in a few weeks time for testing, already had some testing a few years ago when my mum was alive, she gave a blood sample, she had bc twice, 17 years apart, it scares the hell out of me that like my mum i may get bc again, so if i am found to be a carrier of the genes i have already decided to have full risk reducing surgery.
I know to some ladies that may seem a bit drastic, but i would like to here other people’s views, good or bad.
I know i am a bit ahead of myself ,but i think i am kind of convinced of the outcome in the end, what with the last 5 women in my family all having bc.
I am a positive person, but as my treatment is coming closer to the end i am starting to become a little upset, i know lots of ladies feel like this, i think my problem is that, now i have to wait months to find out whether or not i should consider the risk reducing surgery.
I know i should think myself lucky, that i didn’t need to have a mastectomy, but i dont feel lucky at this moment in time.
Sorry for the wingeing, any of your experiences or advice on the subject would be much appreciated.
Take care Sandrae x

Hi Sandrae

I was diagnosed with breast cancer in August and like you the size of the lump would usually require just a WLE. However, also like you I have a lot of family history - my mum and my aunt both died in their 40s of breast and ovarian cancer plus my sister was also diagnosed with bc last December. We didn’t have a suitable blood sample before my sister’s diagnosis as my mum and auntie died over 20 years ago and they didn’t keep samples at the time however with my sisters diagnosis we were able to test both her and me for the BRACA gene alterations. The result has been that we have both been confirmed as BRACA 1 positive.
I am currently having chemo treatment as my care team decided to do that first whilst i had the genetic test and decided what I wanted to do if the result was positive with regards to risk reducing surgery. My chemo is due to finish in about March (all being well) and I have decided to go for the double mastectomy with reconstruction after that. My sister has already had a WLE at the start of her treatment but has also decided to go for risk reducing surgery and is waiting for a referral. She has also already had her ovaries removed as BRACA 1 means a significantly higher risk for that as well.
To be honest I feel like the risk reducing surgery is the only way forward for me. I am 37 and have 2 daughters who are 8 and 4 and I really want to do everything to make sure that I am there for them in the future and they don’t have to go through losing their mum like I did. I have been told that the risk of bc coming back is higher for me with this gene alteration and beacause my current bc is triple negative (apparently typical for BRACA 1) i can’t use any other sort of long term drugs anyway.
Believe me it is not an easy decision but I just want to do everything I can knowing I have this genetic alteration to ensure i keep the bc away. I met the plastic surgeon a couple of weeks ago and he was really reassuring so just got to wait for chemo to end now…
I don’t think what you are saying is being drastic or that you are whingeing at all - when you have had so much experience of bc you need to take whatever action you need to so as to ensure you feel you have done the best for you. Have you been referred to the genetics group at your hospital yet for the genetic testing? I found my genetic councellor really helpful and very understanding and it might help you to talk it through with them face to face if you haven’t already.

hi sandra

im a breast care nurse in genetics and also a BRCA2 carrier who has had BC twice… first at 37 and then at 40…

i know what you mean about some folk thinking risk reducing surgery is drastic but they arent the ones living with the risk… you have to do what feels right for you personally.

regarding the gene testing… even in families such as your own the majority of results come back showing no mutation found… this doesnt mean that there isnt one just that its maybe a new gene change which hasnt been identified yet… this doesnt change your risk you would still be classed as high risk having 4 or more members of the family with breast cancer… you get points for each individual… if you, your mum, her mum, and her sister all got breast cancer in your 40s you would have 24 points which would be more than enough to fit the criteria for genetic analysis if that is what you want.

if you wish to be tested and your test results show you have a gene mutation other family will be offered a predictive test looking for that specific gene change… the original analysis should take around 4 months and the predictive test takes about 1 month.

if family member have a predictive test it will tell them that either they do have the same gene fault and are at an increased risk of cancer or no they dont carry this gene change and are at population risk ie the same as joe bloggs so not increased.

if you have a full gene analysis as i said above and it comes back showing no gene found then they cannot test other family members as they dont know what they are looking for so they would all be considered at an increased risk and be offered screening and/or surgery.

you dont need to have a positive gene result to opt for prophylactic surgery if your considered at a high enough risk you and your family members may opt to do this anyway.

theres a lot to take in and you need full counselling from the genetic team so that you are happy with your decision.

i found out i had a brca2 mutation in january and just had a hysterectomy and ovaries out 4 weeks ago… im on the waiting list for bilateral mastectomy and recon but still not 100% sure i want to go ahead with this… so im not going to be rushed into making a decision until im happy that its the right choice for me… mean time i will be getting screened.

the only really difference between being brca positive and high risk with no gene found is that brca positive women without risk reducing mastectomy will be able to get an annual mri screen from the end of the year (not fully rolled out so may be next year for some places).

also there is genetic research which takes a long time to get the results usually about a year… this is funded through the ICR and not your health board be aware they may offer you this as an alternative to gene analysis but it isnt as rigorous and doesnt look at all the mutations so it could miss something the full analysis picks up (this happened to me)… you can however get gene analysis and send bloods for research… im wondering if your mums sample went for research and not full analysis so think its probably quite useful to have your own sample checked if you are wanting to know.

feel free to pm me or ask any more questions and ill try to help if i can.

lulu x

Thank you ladies for your suppoet, i am having a few probs with my computer, so sorry my reply is rather short,Thanks again Sandrae x

Hi Lucy, thank you for your reply, i wish i had had things explained to me properly when i was first dx, i feel if i had known then, what i know now, i may have chosen to do things like you have, i feel if i had had all the information before hand i may have decided to ask if i could have chemo while i have genetic testing, at the moment i feel that no matter what the results eventually come back as, i will decide to have risk reducing surgery.I wish i had had it in the first place, rather than a WLE, as being really high risk, i now realise, even if i do not have one of the genes, i am still at really high risk of bc returning.I hope all goes well for you with your treatment, i have an appointment a week on monday with the genetics team, i saw them a few years ago, and decided not to be tested as i was offered yearly mammograms and regularly checked my breasts. It was at my mammogram that my bc was detected, luckily for me. after reading on the forum , other peoples exp, i’m not looking forward to the next few months, but hey! you have to think positive. Thanks again, Take care Sandrae x

Hi Lulu, thank you for your reply, i understand things a bit better now, i had a hysterectomy when i was 28 due to really bad pain and constant bleeding, not cancer related.I was left one ovary as the other had been removed with a large cyst years earlier, i think the ovary was left as i was young and it was thought that it may continue to work, well it didn’t, i was then put on HRT and was on it until 4 years ago, when i decided to come off of it due to the bc risk.I think i was tested for brca1 when mum was alive, then a few years ago i was offered testing for brca2, which i decided not to have as i was offered yearly mammograms and regularly checked my breasts, i don’t think i would have decided then to have risk reducing surgery even if i had had the test, but now i have had bc, all i can seem to think about is how my mum got it again
I feel i have been lucky that my bc was discovered early, (due to mammogram),but worry that if i don’t have risk reducing surgery, may i not be as lucky another time. I know that seems a bit drastic, but you must be extremley strong to deal with a secound dx of bc,how on earth do you stay positive.
I will let you know how it goes at my genetic appointment a week on monday. Take care Sandrae x

Hi Sandrae

I wish you lots of luck with your appointment next week - I think you are doing the right thing getting back in touch with the genetic councillors as they will be able to help you make the decisions you need to make. You are right that it is not exactly something any of us would choose to do but sometimes it is the right thing despite how difficult it is. People say to me that having the double mastectomy is brave but I don’t think its brave - I wouldnt choose to have it or be in this position but for me it is th right option to give me the best chance of being around as long as possible!
Please let me know how you get on next week.
Take care

Hi Lulu

Found your posting really interesting, but I will have to try and digest what you have said.

I had BC approx 6 years ago aged 46, multi focal (2) eventually had mastectomy and chemo, no node involvement. My cousin developed same last year aged 50, her mother had died of ovarian when she was 70, but previous to that only 2 x members of our family have had problems 1 on each maternal and paternal side.

Because of my cousin I went to see genetics team in St Marys a few weeks ago and it was confirmed that I met the criteria which I was a little taken aback by. My mother (my aunts sister) is still alive at 75 no problems as yet. I requested that bloods be taken on that day but as of yet I am still waiting for the hospital to contact me with regard to what happens next.

My cousin lives in Poole and saw the genetics team yesterday who virtually said the same.

Now I am wondering if I should request a bi lateral mastectomy, last time I nearly ran down to the operating theatre but this time I am a little scared. Tried to talk to my OH this morning, but we are just miles apart and I couldnt get any feed back on my concerns about being without breasts. I also had my ovaries removed 5 years ago.

Sorry to ramble on but I have so many thoughts and questions running through my mind but not of it is clear a the moment.

Hi lancslass

sorry iv taken a while to get back to you but iv been on holiday…

In my clinic prior to BC you wouldnt have been considered high risk as your mother hasnt had cancer so that would look like you probably wouldnt have a mutation as your mother wasnt affected… however there is a research trial which would take blood for research purposes which includes a genetic screen for the common changes in BRCA 1 and 2, for this you dont need to be first degree relatives of each other so this could be what they are checking… however its a research trial and takes around 9-12 months for results.

as for prophylactic surgery everybody who has cancer has a risk of contralateral BC although its not high enough risk for them to warrant doing any preventative surgery at the outset… the screening is annually so would hopefully pick up anything were it to develop.

genetic cancers tend to occur at a younger age, are often more aggressive grade 3 cancers, more likely to be triple negative or HER2 positive tumours… so often they will try to get confirmations of age and type of cancer to see if it looks likely to be genetic as well.

so this may be relevant to you considering prophylactic mastectomy… if you have a grade 1 or 2 Er positive HER2 neg tumour then you (and your team) would probably not feel the need to have risk reducing surgery as some body with a grade 3 triple negative tumour.

breast cancer is such a common disease that most people under 50 getting diagnosed it will have sporadic cancer and not genetic cancer, just that people diagnosed at a younger are more likely to be genetic than women diagnosed at an older age.

hope that makes some sense.


hi sandrae

you say i must be a strong person to deal with a second diagnosis but we all just deal with what we are given… id obviously rather not have had cancer twice… or even had it once for that matter but i didnt get a choice so just had to get on with life.

it was a shock when i got it again, but now that i have i wouldnt be surprised if i got it again… i get regular screening with a mammogram every year and i know i will be called back if there is anything they are at all worried about, but having the brca2 gene mutation means im at risk many different cancers and obviously i cant get rid of every part of me thats at risk, so will just need to remain ‘body aware’ so that i can get any changes checked out.

although my opinions may change again, as i do round in circles sometimes LOL

Lulu x