I am really confused about BRCA testing. I am 48 years old and have been on a monitoring programme at my local hospital for several years, this is due to family history. This involves an examination annually and a mammagram every two years, so I am lucky to have the support of the hospital. My mother died from breast cancer when she was 46 years old. My sister developed breast cancer when she was 45 (thankfully, she has so far had treatment and has come through OK). My mothers Auntie also died from breast cancer (not sure how old she was, but less than 50 years old I am told). As you can see there is a fair bit of family history and I am lucky enough to have the hospital keeping an eye on me. However, it has never been suggested that I have a BRCA 1/2 genetic test. I don’t know much about this (apart from articles I have read on line). As I am 48 would the hospital think there is nothing to be gained by testing. If anyone has any opinion I would be very pleased to hear. I have one son and two daughters and if I could help protect their future by knowing if I was a carrier or not would be may main aim.
Any advice welcome.
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Hi Jules,
i was diagnosed with bc age 49 in 2010 after losing my mum and aunt to the disease.I wanted to be tested before this but because i didnt have a living relative with bc and my mum and aunt had died over 10 yrs previously they couldnt do the test,However once i was diagnosed with bc they did the genetic test(after thorough counselling,they didnt do it on the 1st visit)which was a simple blood test,and i tested positive to brca 1 and there was a sequence change in brca2 (which they explained meant a possible positive in brca 2 which they didnt pusue cos I was positive anyway).Because of this positive outcome I chose to have a double mastectomy and my ovaries removed and im happy with the results.My daughters aged 28 and 30 were also tested.The eldest was negative but the youngest tested positive,She has recently had a double mx with immediate recon and she is also happy with the result and has just returned to work.She is very relieved the fear of being diagnosed with bc has been greatly reduced from a possible 85% and she will have her ovaries removed when she is 35. My aunts daughter doesnt want to be tested and that is her choice,however as a mum i was glad my girls were tested and initially I felt so guilty for passing on this gene.I was more devastated than when I was diagnosed myself.If you want to be tested you can ask,I was given the choice of preventative surgery or regular mammagrams,this was also the choice given to my daughter,
good luck
Di.
Hi Jules,
You need the wonderful Lulu to give you some advice on this, but in the meantime, can I ask if you have had breast cancer yourself? My experience was that the brca1/2 test could only initially be undertaken in a family member who had had cancer. This is because it easier and quicker for the fault to be located. So, If you had had breast cancer then you could ask to be tested, your family history would be used to assess risk and determine whether you met the criteria for the test. Otherwise, your sister could be tested (she has had breast cancer), then if she were to have a mutation, they could look for that mutation in you to see if you had it.
You ask about the benefits of knowing- as Dibs says not everyone wants to know, and it is a heavy burden. To be honest, I dont feel very positive about knowing- I have a brca1 mutation and I have just finished treatment for a 2nd breast cancer, whch was discovered after bilateral mastectomies- but the knowledge would help you, your children to know what risk they were at and to think about how they wanted to manage that risk. Also, screening does not prevent cancer, and it does not always detect it, though hopefully it does. These are then the advantages of knowing.
Its a complicated area and lots of it is not always clear. Hope this helps.
Rattles x
Thanks to Di and Rattles. The information you have given me is really helpful. Rattles, I do not have BC myself, I did have a scare a few years ago, but thankfully all was well. As mentioned, my sister is still living and I think I will have a chat with her and take it from there. I know she will be more than willing to help if needs be. Thank you both so much for taking the time to respond. It really has helped. I’ll keep you posted.
Good luck and all the very best xx
As rattles says in order to be tested for the two known genes the person being tested must have had breast or ovarian cancer. The family must fit a high risk criteria, which is 4 or more breadt cancers uncder age 60 or ovarian at any age in 3 generations, or an individual with both breast and ovarian cancer or an individual diagnosed under age 40 with triple negative breast cancer (tnbc) which is negative for oestrogen recotors, progesterone receptors and her2 receptors. There is also a scorinf system called the evans score and a score 20 points or more would normally be enough to fit the criteria for testing. The institure if cancer research provides guidelines on testing criteria but this can vary slightly at local levels. So generally speaking although your family doesnt fit the general criteria they may well be considered high enough risk to be tested based on the evans score… Breast cancer in the 40s is 6 points each… So a family with 3 BCs occurring in the 40s would get 18 points… Some units would offer testing for this but some may not.
the initial person being tested has whats called a full mutation analysis this is like reading every page of the phonebook looking for a spelling mistake.
if a change is found then other family members can be offered a predictive test… They dont need to look through the whole phonebook this time they can just go directly to the page where the spelling mistake is to see if they have the mistake too.
this basically means that if somebody having a full mutation screen has no changes found then family members cannot have a preductive test as no spelling mistake exists.
however as more information becomes available and techniques improve it is possible that a mistake maybe found some time in the future.
as rattles and dibs have said not everybody wants to know if they carry a mutation or not and it can raise issues of guilt for some people And some individuals in a family want one thing go happen and some want to just leave things be. i tested posiive fir brca2 as did my dad, but my mum who had bc 18 months beore me didnt and she just happened to have a sporadic bc. My sis and uncle have also been tested and are neg… My kids havent been tested yet… Daughter 21 and son 18. Peronally i would like them to get tested as i want t know… But its not my choice its theirs and i respect that choice knowing they are fully informed… They are both young and cancer in your twenties is still pretty rare even if you have a gene mutation.
i just want to be there and support them whatever they decide.
I am pretty sure that I don’t meet the NHS criteria for genetic testing. My mother and I both got bc in our 40s but I do not know of other instances of breast or ovarian cancer in the family. My BS said “I didn’t have enough of a pattern in the family for it to be genetic” and said he thought it was sporadic bc but my onc said that he could “never rule out their being a genetic link.”
As my mother died of bc mets some years ago, any genetic testing would need to begin with me and, two years on from active treatment, I am thinking that I would like to go down this route. Obviously it would have implications for whether I needed to have an oopherectomy or a prophylatic mx as well as giving others in the family the possibility of testing and, if necessary, additional screening down the line.
I am missing part of my genetic history (my father’s side) but guess that I still don’t qualify on the NHS. Is it possible to go for genetic testing privately and, if so, is there anywhere you would recommend? I am in the Midlands but happy to travel to London if this is easier?
Thanks MG x
hi i have just been dx with stage 3 triple neg bc and im 39, my mum had ovarian cancer 8 years ago and my sister is now having a hystercomy after finding ovarian tumours, do you think we shoud be tested as we both have daughters.
Jellymould,
Lulu is good at answering these questions regarding if you meet the criteria, but I am pretty sure you would, particularly with the ovarian cancer link and the triple negative. I met the criteria with my triple neg at 34 and my aunts ovarian at 37.
Deciding to have the test is a very personal decision, I was very sure that I wanted it, but you are always referred to a counsellor to discuss it before you go ahead. In my view there are definite advantages (I now have MRI screening, and am planning on having my ovaries removed), but I can understand tha some people just don’t want the knowledge hanging over them.
I waited for a year after my diagnosis to enquire about testing, partly because I didn’t know about BRCA, but also until I was well out of my treatment. It is a lot to go through all at one time.
You may want to raise it with your breast care nurse and see what the process is at your hospital
Jen
I agree with Jen. From what you have said you do sound like you are at an increased risk of carrying a gene change but only 20% of families such as yours will actually be found to have a mutation. But whether you get tested only really you can decide. Some people wouldnt think twice about having the test done whereas some wouldn’t consider it at all.
The first step is being referred to genetics and your Onc or surgeon can do the referral. At some units it can take a few weeks to get seen. And the first meeting is generally to look at your family history and identify if you are at an increased risk and if so is this a moderate risk or high risk. Only those classed as high risk would normally be eligible for testing.
you don’t say if your sisters tumours are cancerous if not the she most likely wouldn’t be included in the assessment. But one of the criteria froze offering testing is TNBC diagnosed under 40 so even with you alone it’s possible your genetics team would offer testing anyway. If mum was under 60 at diagnosis And as you were under 40 your genetics team may use the Evans score which wolike give a score of 13 for mum or 10 if over 60 and 8 for you. The testing is usually offered if the family scores 20 or more. So you are quite borderline.
Now all that said some people just do not want to live with the knowledge that they may carry a gene. Where as others feel they cannot go on without knowing. So it’s a very personal choice. Regardless of testing your sisters and daughters would be eligible for early screening by mammo from 35-40 depending on where you get seen.
Probably discussing it with your family is a good first step. But don’t do something your not happy with.
The consequences of having a gene can mean you have squire major decisions to make. I have brca 2 and had bc in both breasts at 37 and 40 and both treated by wle prior to finding out I was a mutation carrier. I the. Had to decide whether to have double mx or to continue as i am but have MRI screening as well as Mammo. And so far this is what I have done and MRI picked up a chest wall recurrence last year but all is well now. I also had to decide about fertility as me and oh were planning to try for a baby when diagnosed. I already have two grown up kids but he had none. However I was informed the chemo had put me in the menopause so decided to Have a hysterectomy and ovaries removed. This did put additional strain on our relationship and we did separate for a while but now back together again.
there is a lot of useful info booklets on hereditary BC and OC from Macmillan, bcc and the royal marsden.
It doesn’t do any hard to discuss it with a genetic counsellor at some point no matter what your feelings are at the moment. Might also be good for sis and mum to come along too.
hi lulu thanks for answering my query, my mum was 49 when she had the ovarian cancer, my sisters tumours are not cancer but the surgeon has suggested a full hysterectomy because of my mums early cancer and now i have the trople neg at 39. i would rather know, then i can make the decision before it rears its ugly head again. im very strong and if i was carring the gene i would defo have the surgery.
hi jellymould
i would say with your fam history you def fit the criteria. So I think you should be eligible for testing non matter where in the country you are.
Hi all,I met the criteria too, with two paternal aunts having ovarian cancer under 60 and me being diagnosed with triple neg bilateral bc at 37. I had my blood teat 11 weeks ago and still waiting for the results, I was quoted 12 weeks at the time. I’m still undergoing chemo at the mo but as I’ll have a double mastectomy anyway doesn’t affect that surgery but does mean I’ll have to think about having my ovaries removed if I’m positive, oh joy!!! My dad is one of 7 and I have 13 cousins who all have 2or 3 children each, me included. Everyone is in panic mode,although it is a 50/50 chance you’ve passed it on, my doc explained its like dropping a stone into a lake and watching the ripples going outwards and somewhere on a ripple there the faulty gene will be.
Love and best wishes to all, Vicky. xxx