BRCA Testing

Hello ladies,

My mum is a month post chemo after finishing 6 sessions first line treatment. She had OC Clear Cell Stage 1c/2. We are awaiting our first post chemo appointment with consaultant when a letter came through today explaining that mum had been refferred for genetic testing for BRCA1+2 genes. This has petrified me as I have researched alot about OC in general and other implications such as the genetic side. I could have sworn our consultant said that mums particular type of cancer (clear cell) is not a genetic type of cancer. At the time I did not question her and after a few weeks i thought hmm, no that cant be right. So anyway, we now have this letter and I am so scared mum may come back positive which means I am 50% likely to carry the gene. Does everyone who had OC have to hae the genetics test? Is it normal procedure? I am so scared as i know girls as young as me (24) who have opted for surgery to reduce risk. I just cant believe i need to think about all this, Im still getting over the shock of mum getting cancer in the first place. I think where me and mum are so close the last year has been so difficult. And now we have to await these results. Has anyone been through genetics testing? Is it normal procedure for OC patients?

13 Replies

oldestnewest
  • Hello. Firstly, I am sorry to read about your Mum and also your concerns. In relation to genetic testing for BRCA genes - is there a family history of either breast or ovarian cancer ; which may be a reason. Secondly, I was diagnosed with clear cell OC (4 & 1/2 yrs ago) and it is only recently that the possibility of genetic links of CCOC and maybe kidney/prostate - but it is very tenuous. Lastly, I don't accept everything I read a 'true & gospel' any more - as low stage OC is not supposed to recur if found & treated early. Afraid to tell you - that is not always the case.

    I would suggest that you telephone the Onc and ask him/her'WHY??? - as the wait to have it done and also for results is very worrying. I opted not to go down that road - as the link is so loose, I felt it was not worth it. (I'm 62 yrs now).

    However, as you are so young - if there is a link - would you consider asking the Onc about the genetic test for yourself.

    I would of course be very interested as to why the Doc requested the genetic test - so do keep us posted.

    Regards and kind wishes to your mother and yourself also.

    Daisies

  • Hi Daisies, sorry to hear about your recurrence of OC, I agree with you when we can't always believe everything we read and the statistics aren't always true. I can only assume that the request for referral would be due to my mums aunties both passing away from Breast Cancer aged 60+70. Mum doesn't know her real dad as he fled off with another woman when she was born, so doesn't know anyone on his side. Her mum (my nan) has been Cancer free. So maybe the fact both her aunties had it, and in fact one of her cousins had prostate cancer last year may have triggered the referral for testing? Hopefully will see the consultant next week for more information. I agree that sometimes we are all at risk of Cancer, gene or no gene. Mum and myself have discussed if she does come back as positive for any genes, hopefully it means we can be monitored more closely. Just the thought of waiting on more life changing results...

    Hope you are okay, thank you for replying.

  • Hi LivK. My mum had Ovarian cancer (age 53) in the 1990s and I have just been treated for invasive lobular breast cancer (age 46) - BRCA tests came back negative and I was convinced they would be positive. I was told by my oncologist that with BRCA 1 and 2, the breast cancer ages tend to be young - diagnosed in 30s and 40s not 60s and 70s.

    If the results come back negative, (which they probably will), I would advise that you ask to be referred to the familial breast cancer team at your local hospital anyway, then they can give you regular exams and ultrasounds (mammograms are not great for young people as they have dense breast tissue). I wish I had been monitored like this and then my bc would have been picked up before it had spread to lymph nodes.

    I have a close friend in her early 50s who's mum had breast cancer age 40 and she has been examined every year from age 25 at the hospital and is clear of breast cancer - she has never been tested for BRCA genes.

    All the best to you and your mum and try not to worry. I was told that most cases of OC are sporadic.

  • Hi bex, thank you for your reply. It was interesting to read the experiences you have mentioned. Do you know if your mum carried/ carries the BRCA gene in order to warrant for your test to be done? Or was it purely from your BC diagnosis they decided to push for genetic testing? I'm hoping i can do regular scans and check ups and keep on top of it that way. As Annie mentioned in the comment below maybe hospitals now are pushing for genetic testing as a way of forward planning? Mum said, years ago when her aunties had BC they wouldn't have had a clue what genetic testing was or if there could have even been any link. I'm trying to look at this all positively as a way of being monitored,

    Hope you have a nice weekend.

    Livi xx

  • Hi Livi. My mum was diagnosed with OC in 1992 and sadly her diagnosis was very late so she passed away 9 months later after undertaking clinical trials into Taxol which was a new drug at the time. The BRCA genes were not found until later on in the 1990s. Thankfully there is better awareness of ovarian cancer and symptoms nowadays - I don't think my mother had really heard of it at the time and she was a well-educated person.

    I had to push for the genetic test actually - I think it would have been done eventually (I have a sister and 2 daughters), but I wanted it to be done quickly before surgery decisions were made. I know that BRCA status has implications for different cancer treatments such as parp inhibitors (I may be wrong...).

    Stay positive, best wishes and have a good weekend.

  • Hi there LivK,

    What a shock this must be for you all round. I am so sorry to hear about your mum and I understand about the additional shock of thinking about so many possibilities. Fortunately though it may never come to that in your case.

    I think there are many oncologists for OC who pretty much routinely refer to clinical genetics testing. I don't even have a family history of breast cancer or OC and yet I too am now awaiting the results of genetics testing. The reason they have referred is to potentially open up the possibility of additional/different treatment down the line, if I should turn out to be positive. However my main reason for going for genetic testing wasn't that: it was to (hopefully) rule out any genetic link so that I can assure my sisters and nieces that their risk of OC is not substantially different from the general population.

    I know our situations are different, but I am writing because I would like to assure you that going for genetic testing is NOT the same as getting a bad result from genetic testing. Quite the contrary - my genetics tester explained that there is a 90% chance that there is NO genetic link, but they test anyway for the reasons described above. So to answer your question - yes it is pretty normal procedure to do the genetics testing.

    I totally get that it is very hard indeed to be waiting so long for the results of it all. Emotions are very strong, aren't they. I bet your mum is so proud of you for how you are helping her through this tough old time. I hope the results when they come are the ones you want.

    Very best of luck for her, and for you. Keep us all posted.

    Judith

    x

  • Hi Judith, thank you for your reply. Reading what you wrote made me feel slightly more at ease. I think I am a very big worrier, and I create all these negative scenarios in my head as a way of preparing for the worst result. (I'm the same with check up appointments when I go with mum). In the end I'm not doing myself or anyone any favours, except getting into a stressed state of mind. It hasn't been properly explained to us why they are going ahead with the genetic testing, I hope it may be because of what you suggested- as part of procedure to test most women as a way of future individual treatment plans. I suppose in a way it may help with more research into genetic links and other hidden genes which spark this awful disease. I wish you best of luck for your results, would you mind staying in touch and getting back to me with how you got on? I'll do the same.

    Hoping you enjoy your weekend.

    Thank you again,

    Livi xx

  • Yes of course let's stay in touch! I hope to get results in the next couple of weeks.

    Take care and have a lovely weekend -

    Judith

  • I'm sorry to read you're having such a tough time with so many worries for your mum. I'm shocked you received a letter to say she is to be offered genetic testing. It really should have been discussed with your mum during one of her consultations.

    Your mum is actually very lucky to be in a team that do routinely test for the BRCA genetic mutation. Many women want to know and have to pay £500 for this. She may well be in a hospital that is taking part in a clinical trial that screens for BRCA, in Scotland where they offer it to all women with ovarian cancer, or just in one of the more forward-thinking hospitals.

    Has a contact number been given on the letter. Please ask them for a consultation so you understand more about this testing and the implications. It does, as Judith says, offer new treatments that have been seen to be very hopeful and in time, if your Mum is BRCA positive and when it's right, you should qualify for a free test.

    You can look up more information on an excellent website: facingourrisk.org/index.php

    I hope with some support you will come to see this is a positive and potentially an opportunity to prevent cancer occuring in the future.

    very best wishes, Annie

  • Hi Annie, thank you for your reply. It was to no surprise for us that any correspondence is usually in letter form, that has been right from the start. I do understand the NHS system is currently under a lot of pressure. We actually found out awaiting mums biopsy results after a TAH through a letter that her results were Cancerous. That was before any consultation or phone call. We were so distraught and had to do all the phoning up hospital to check if it was correct and find out the staging ect. So we have not had the best of luck with the overall system, but I cannot fault the staff, our consultant Dr Chang Yeoh at Portsmouth QA hospital is amazing. We are awaiting our check up next week, where hopefully we can discuss more about the genetics side of things. I think we just have to go through the motions and keep marching on. I'm hoping I can have regular screening or even a CA125 test done often to keep on top of it that way.

    I hope you are okay, I do read a lot of your posts and the volunteer work you do is fantastic. You are a very brave lady and very kind with advice on this forum.

    All the best, Livi xx

  • Dear Livi

    It's lovely to get to know you more. I'm shocked you get all your news via letter. I don't know how much you know about me but the reason I do a lot of lobbying is because I live in Wales and discovered largely through chatting on this site that the drugs and treatments we can have are very different to the ones patients at the best centres in England expect as a right so I looked into it. Now have an NHS address in England to access what is for me a better standard of care, but I live in Wales and I use this situation to continue to lobby to improve things in Wales.

    I changed hospitals and moved from one NHS to another overnight and what a stark change. I have found the staff to be absolutely amazing everywhere and I've been grateful to them all for their care and professionalism but it seems the management and the funding in different hospitals has a huge effect on the patient experience.

    I'm reading a fascinating book at the moment by Dr Phil Hammond called 'Staying Alive' How to Get the Best from the NHS. It's well worth a read because it portrays the NHS as it really is from a doctor's perspective and it does give an idea what patients can do to make their experience better. One thing that strikes me even half way through reading the book is that you could tell Dr Chang Yeoh that you'd like news via consultations with him or his staff and not via letter because this would provide information in a supportive environment where you have a chance to discuss new information with your mum's team. It may be there's just some muddle going on where your oncologist thinks you would prefer to get information via letter.

    As for screening, that's been a hot topic in the news in the last week or so. There has been talk of a new screening for ovarian cancer but so far there's no evidence that regular CA125 screening of women over 50 is actually going to save lives. It's all a bit depressing really as we read the hopeful news last week to be dashed a few days later. It seems we have to be patient. The final results of the screening research will be published in the Autumn.

    Meanwhile, all one can do is to be vigilant. Do our best to raise awareness and rattle cages until ovarian cancer gets the high profile that breast cancer has enjoyed and the funding and research that goes along with that. If you are BRCA positive then that's another arrow in the sling.

    Sending very best wishes xx Annie

  • Hi

    I have the BRCA 1 genetic mutation. I found out after I was diagnosed with ovarian cancer. I had to push to get tested as it wasn't immediately obvious from my family history. I am glad I did get tested as it has opened up different treatment options for me.

    Also my family (mother, siblings. daughters, son, cousins etc) have been tested and it has enabled them to make informed choices to reduce their risk of getting cancer. I wish I had known about my genetic mutation before getting cancer - I could have prevented my cancer.

    My children were similar age to you when they found out about the BRCA mutation. My two daughters were 19 and 24 and my son was 21 when they were tested so I can understand how hard it is for you.

    I also run support group for anyone affected by hereditary breast/ovarian cancer (whether tested or not) facingourrisk.org/get-suppo... so if I can help in any way please ask. Happy to answer any questions.

    Best wishes

    Sharon

  • Hi

    I had genetic test and came back that I'm not positive but have a variation of normal and they don't know the implications of this. My sisters will have their ovaries out and premature menopause as a result. I know what you mean about frustration of potential surgery that u don't need but the other way of looking at it is an opportunity to never develop the disease .

    My genetics dr feels everyone with ovarisn csncer should ideally be checked as he thinks it is under reported how much is genetic. The barrier is funding ..as always, I know it helped my sisters to think that the test won't change the way you are but at least you will

    Know about it. It is illegal for insursnce forms to ask about genetic testing (they can ask about cancer itself) so no impl actions there. This is just my experience if genetic testing ...I'm sure there are lots if others with good info for you

    Best of luck

    Susan

You may also like...