I’ve just been informed that I have a BRCA 1 mutation. I’m gutted and in shock. I was diagnosed with bc almost a year ago and had a bilateral mastectomy. Because my mum died of bc at 41 and grandmother of ovarian cancer at 67, I was offered genetic testing. I’m not sure why I’m so surprised at the result but I’m very upset and keep bursting into tears. I’ve been told I’m now at increased risk of ovarian cancer so I guess I’ll have to have my ovaries removed. The thought of more surgery really scares me. I’ve got an appt with my geneticist in a couple of weeks, but in the meantime can anyone give me any further info relating to BRCA 1 mutations; I’d be really grateful. xx
Hi Caro
Although I didn’t test positive for the BRCA1 fault, I had counselling when I went through the testing just in case. There is a family history of breast cancer hence the testing plus my young age at diagnosis. I remember thinking at the time that I wasn’t sure whether it was a good thing or a bad thing to find out if I had the faulty gene as this would mean a lot to think about and potential further surgery as a preventative measure. However, I do feel that having the knowledge is a good thing as you can decide whether you wish to take further preventative measures in terms of surgery, plus hopefully close monitoring by the medical profession.
I know it’s hard to get your head around and I think that over time, you will start feeling better - time is a great healer. It’s a shock to your system and you need time to digest it all.
Sending you hugs
Ruby xx
Hi Caro, I have breast cancer and my Mum died of ovarian cancer. We also have other related cancers but I don’t have either of the BRCA genes (I was so surprised I didn’t have either gene) My family are treated as higher risk. My sister had her ovaries removed in 2008 and it was a quick op, she recovered really quickly and didn’t even have an overnight stay in hospital. She does now have aches and pains due to her now being in the menopause and she takes calcium tablets to help protect her bones. Before her op my sister had regular ovary screening…perhaps you can opt for screening before you decide on an operation. Good Luck and Love…xx
oh caro, i’m sorry you have this added worry. just wanted to send you a hug and bump this up for you. xxxx
Hi Caro,
Yes its a shock even if you strongly suspected you had a mutation. Its quite normal to feel shocked and tearful and it will probably take a few days until you feel you’re ready to accept it. I think its important to find out what your specific mutation is. There are hundreds of different mutations of the BRCA 1 & 2 genes and each carry their own risks. I have a mutation of the BRCA 2 gene. My specific mutation falls into the ovarian cluter therefore increasing the risk of ovarian cancer more than say other BRCA 2 mutations. I know of some mutations that increase the risk of melanoma whilst others don’t carry any risk at all. There is a site called FORCE facingyourrisk.org that is fantastic. Its american and there are chat forums just like here, there is a specific board for mutations and if you find out what your mutation is then you can see if someone shares it or has information on it. There is a wealth of information and knowledge on FORCE and I’ve always found people very helpful and welcoming.
Hope you’re feeling a bit calmer now, a glass of wine usually helps!
Shout if I can help you further xx
Posted on behalf of new user Lisa
hi
i too have the BRCA 1 gene had mastectomy left side due to BC and due to have a second mastectomy in autumn just also last week had overys and tubes removed
Hi everyone
I am about to start chemotherapy but I believe I may be BRCA1 due to my results so far pointing in that direction. I will have the genetic test done to find out and then will have to decide what to do.
If this comes back positive, is it recommended to have a double mastectomy after chemo and before radiotherapy? And do they advise you to have your ovaries removed also?
I’m 39 but if I can avoid this happening again in the future, I’ll do all that I can now.
I’ll speak to my oncologist when I see them, but wondered where to get more information about this detailed subject.
Thanks in advance for any help.
Katie xxx
bunny i think if your having gene testing then it can take months before your results would be back and you may have completed all your treatment before you need to make any decisions.
generally speaking your treatment for the cancer would take priority over any prophylactic surgery you may decide to have.
with a positive result they dont actually make any recommendations but will give you all the facts and statistics for you to decide in which way to proceed… some people will opt for prophylactic surgery, others will opt for screening, some people dont want tested becasue they dont want to know… everybody is very different.
your clinical genetics department will assess if you are able to have a genetic test as one individual diagnosed in their 30s wouldnt be a big enough risk factor to warrant testing… but if you have a significant family history they will be able to advise you.
Lx
Thanks Lulu - helpful information. I will speak to people as I go along and collect further information. There is so much to take in isn’t there! It seems like this whole thing is going to be ongoing, suppose I had better get used to it!
Thank you again. xxx
There is a fantastic UK based website breastcancergenetics.co.uk/ with a 24 hour helpline, you may find it useful.
There is also a genetics section on BCPals, a few ladies have shared their experiences and you can read their stories. There is also a private forum and photo album available to members. genetics.bcpals.org.uk/
just thought i would highlight this site too, which is an excellent resource for people with BRCA mutations
it too has photo galleries in their private groups for people undergoing different types of surgery.
lxx
Hi Bunny
When I had my genetic testing it took about 3 months to get the results back, but it does differ across the country. As Lulu said, you’d probably finish your radiotherapy etc. before having any further surgery, if that’s what you choose to do.
Because of my family history (mother died of bc and grandmother of ovarian cancer) I chose to have a bilateral mastectomy when I found the initial lump, before getting the results of the genetic test, because I didn’t want to face further surgery at a later date. It turned out to be the right decision, because they found I have a BRCA1 mutation. With a BRCA1 mutation there is up to a 60% risk of developing ovarian cancer, therefore I opted to have my ovaries removed, which I actually had done 3 days ago!
Do you have a strong family history of breast/ovarian cancers…?
Good luck with your treatment etc.
Caro x
Dear Caro
Thank you for your reply and sorry for my late one!
No history at all in my family - I am the first. My surgeon is a Professor in this field and has hinted that this could be the case due to my results so far. As you lovely people have advised, I will focus on one thing for now and cross that bridge when I have to.
I start my chemo on 16th August and before then I have to do the first part of an IVF process to collect some eggs!! A busy few weeks ahead. To be quite honest, I really don’t care about my eggs but I have to think of life beyond this next 12 months, and give ourselves a choice further down the line. It’s an awful lot to take in and we’re on complete information overload, but I just keep thinking ‘tick those boxes off!’ and we’ll be ok.
Thank you for all your comments and advice.
xxx
bunny can i be nosey and ask what you mean by your results so far?
just wondering if he is referring to hormonal rumours or your age etc… as although younger age and hormone negative tumours are more associated with genetic cancer they arent always and many young women still get sporadic BC also her2 pos and TNBC can affect people of any age with or without genetic mutations.
if you have no family history your genetic team would be very unlikely to test you based on your age and pathology alone.
good luck with your egg harvesting.
I have to agree with Lulu-there seems no reason to suspect that you may have a genetic misprint. If nobody in your family has had any cancer (let alone a genetic one!), then how can you have inherited the gene!?!?
Hi there,
I am having chemo then rads for bc, my mother, her mother and her mothers sister all had bc before the age of 45, then at 45 i to was diagnosed with bc.
I have been to my g.p who has given me a big form to fill in, and he will then refer me to the genetisist, i have two daughters the eldest one is 25, my first thought was, if i get tested then at least my daughters can be tested and get put on the familial mammogram program, my bc was found on an annual mammogram, which i have been having for the last few years because my mum had bc twice, 17 years apart.
It wasn’t until i sat back and thought about what it may actually mean to me if i carry a bc gene, i have thought a little about it, and if i do carry a gene i will opt for a double mx, as i had a WLE and node removal.
It is a nightmare, you just feel as if you can see light at the end of the tunnel, then you realise that there may be more sh*t to deal with.
Well it won’t get the better of me, it’s just another glitch i suppose.
Sandrae
hi Sandra
even without a gene test your daughters would be able to get screened early because of you extensive family history… in england this screening is mammograms annually from age 40… and there may be research programmes that would let them get screened sooner.
in scotland they tend to start screening from 5 years younger than the youngest person diagnosed, with mammograms usually starting every 2 years from 35 then annual from 40… very occasionally they will start mammo from 30 but its not recommended for women under 30.
Lx