BRCA Testing

Although I have had OC for four years without any mention of a genetical link my oncologist has now decided to give me the test anyway just to be sure in spite of the fact that II have no family history of Breast, ovary or prostrate cancer as the new wave of thinking is, as my oncologist jokingly said 'Daddy may no be who you think he is!!!!! This I find quite amusing!

Anyway my question is when you have this test do you get called in for an appointment to discuss the results even if it is negative?

15 Replies

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  • What a sense of humour your oncologist has! That's amazing you're being referred for genetic testing. I was at an APPG when this was discussed and one of the consultants who was talking about BRCA felt that all women with serous tumours should be tested and that treatments such as PARP inhibitors may well be effective for women who are not positive but have BRCAness traits. It seems to me it opens up all sorts of new avenues for treatments.

    I was tested in Wales and they were very solicitous. They invited my daughters along with me prior to the test to explain the implications of a positive result and gave us plenty of time to chat or explore our feelings and options available for my two daughters should we be positive. As it happens the lab lost my blood sample for five months so when they eventually found it they phoned to say they'd found it and it was negative.

    I don't know whether every test centre does the same but I certainly felt I'd been well-treated having the meeting beforehand so we knew what we were going in for and were prepared.

    It would certainly be worth discussing all the treatment options with your oncologist after you receive the results.

    xx Annie

  • Thank you Annie for your reply.

    I had no idea that this test was so special so to speak. I was not given any preparation talk or asked how I would like to receive the results. As I have said in another reply I have five children so really need to know if it is gene related for their sakes so am very happy to have had it done. I just did not want to waste someones time going for an appointment at the hospital just to be told it was negative. I had a call this morning to make the appointment which I thought was odd as I thought the result would have gone to the refering oncologist as the result would ultimately affect any treatment I may have.

    Thanks again for your time

  • Dear Chez, This topic has come to mind just this week as a close friend has been tested positive and she has been explaining quite the extent of the ramifications of a positive test result. I hadn't realised at the time I was tested, and I don't think our counsellor mentioned the link to breast cancer. I recall discussing voluntary hysterectomies with my daughters once they'd completed their families, but hadn't realised until last week that there is also the option of a mastectomy and the enormity of this type of operation alongside or following a radical hysterectomy.

    In hindsight I should have been more aware with all the publicity about Angelina Jolie but my paper didn't feature it to a great extent and somehow I pushed it out of my mind dismissing it as filmstar stuff. I realise now it's not and if women are BRCA positive there are many things to consider re breast, prostrate and ovarian cancer.

    I hope you get on well with the tests. There are only 150 funded tests p.a. in Wales so having a BRCA test for many people here is not something oncologists would raise voluntarily. I'm really impressed at your centre's approach and whatever the outcome I feel it should be looked on as a positive step.

    xx Annie

  • Another illustration of how we know what we need to know/learn at particular times.

    I did know of the link before I was tested, but I think that was because of the type of breast cancer I'd had.

    I remember feeling very strongly when I went for my test results that it was very difficult to know what to wish for.

    Positive and you had all those radical decisions to make (indeed in an early discussion with one young medic, I almost felt he was suggesting one shouldn't do the test unless one knew one would take them).

    Negative and you stay in the dark.....

    Still, at the end of the day, we all get on with the business of living, one way or t'other!

  • Hi Annie

    I agree with you about the Angelina Joli thing . I had not really put much thought into it when it went public and I certainly did not realise the limit to the amount of people, or lack of them, that actually have the test made available.

    Yes, my oncologist is a genious and he has tried every possible avenue of different drugs and surgery available.

    I am in fact being treated in Birmingham even though my home town is Shredwsbury. I was referred to the consultant in Birmingham when my case became complicated and I think the Shrewsbury consultant did not know what to do with me!! Anyway obviously I have had to do a lot of travelling but have continued all my treatment there for the past two and a half years so I have been very very lucky in that respect in spite of the distance.

    Thank you so much for your interesting information on the BRCA question. I have learnt a lot from posting on this site.

  • It's a fab resource isn't it. I travel from Cardiff to London for my treatment. Apparently there are to be less centres in England which means more travel for patients but it will enabke the NHS to cluster together the best specialists in their field. It seems sensible to me to develop the best resources we can to keep up with the latest global research and expertise. I'm really glad to hear how much you value your oncy. Me too. xx

  • Hi Annie. have you seen the BBC news about the UK leading the field on GENOME therapy for cancers and other diseases.

  • I read it in the Royal Marsden Report and Accounts last week, and then it was in the Telegraph today on the front page. Good news for anyone who's already part of the trials but the claims about 'Britain' should read England. You can read the article in the online Telegraph: telegraph.co.uk/science/sci... , I read the first trials are taking place in London, Cambridge and Newcastle.

    It's exciting to be at the forefront of research of this nature. xx

  • It's good that your oncologist is taking a wide view of your need for a test, I think. Not everybody who carries a genetic variation goes on to develop whatever the thing is, so I wouldn't have thought the lack of family history necessarily in all cases meant there mightn't be something.

    My experience was similar to Annie's and involved a specialist genetics consultant, both before having the test and to feedback the results. It's not clear to me whether you'll be having this too or not. I hope so. There's nothing necessarily very straightforward about being found to be negative. We're still stuck with OC and or BC and not a very clear way forward. As Annie outlines, there are nevertheless quite a number of promising avenues around "BRCA ness".

    Good luck with it and keep us posted!

  • I received a letter to tell me it was negative however the letter also advised that they were checking for another cancer gene too which is apparently one that can cause a variety of cancers within a family. I lost both my parents to different cancers and my sister died when she was 21 from a different one again. I am still waiting for the results of that one. I was tested in Jan but only go it results re Braca at beginning of July. Ann x

  • Hi I am BRCA1positive. When I was tested and also when my mother, my three children, my two sisters, and my niece were individually tested (under different health authorities) we all had appointments to receive our results whether they were negative or positive. We also all received counselling before the test to discuss the implications of a positive or negative result.

    Sometimes it is not initially obvious within a family that there is a hereditary mutation. I have inherited the mutation from my mother although she is now 74 and has never had cancer. You can inherit a mutation from your father or your mother's side of the family. If you have a BRCA genetic mutation your risk of getting breast, ovarian, prostate is high (and you may possibly have an increased risk for other cancers depending on your particular mutation) but it is not 100%.

    If your cancer is caused by a faulty gene then you may be eligible for targeted therapy to treat your cancer. I am on a parp inhibitor trial drug specifically suited for BRCA type ovarian cancer.

    Also as Annie says certain ovarian cancers have a BRCAness quality which means they would respond to the targeted therapies.

    Happy to answer any questions you may have.

    Best wishes

    Sharon.

  • Hi Sharon and everyone who has responded to this post.

    Thank you all so much for your interesting information. I have found it incredibly uplifing to chat to people who have been through so much like me.

    Anne I was saddened to hear of all your family connections with cancer. It is such a cruel illness. I am sure though it will help with your treatment having the knowledge from the gene testing.

    Thank you Mac for your interesting letters

    All of you have managed to give me the answers I needed. I will now just wait to see what they have to say on 15th August.

    Incidently my daughter who is now 38 and has two children, when she was in her early 20's had to have treatment as her cervical smear showed a 'moderate cell count' whatever that means and she had two different types of treatment. one was called cryotherapy (dont know how to spell it sorry) and cannot remember the name of the other. It was done as a day patient and was not very pleasent. Does anyone know anything about that. Is it possible that too is a pre-cancer type of thing. I have never discussed it with my oncy (love that expression Annie) as I forgot about it until now.

    I will keep you all posted

    Best wishes to you all

  • Hi Chez, im Annies friend she mentioned whos just tested positive for braca 2 gene even though have no known family history - but know little about my Dads family . I had the test done at the Marsden , i posted my blood and they counselled me beforehand by phone. I was initially offered my results by letter , but said id rather attend. Think they would have called me in as test was positive and there was alot to discuss. i live in Stoke , but train to london 1 hr 20 so not much longer than travelling to Brum -our local genetic clinic too. Have you already had test done? Is appt on 15 th for resukts or to discuss implications of being tested ? Hope you get a negative result - let us know x

    Hilary x

  • Hello Hilary

    Thank you so much for responding to me. I have learnt all I needed to know from this blog. Amazing site isn't it? I will never be able to express how useful it has been and actually makes me feel so much better being able to share my experiences with people who have similar problems. I must admit I do always think it is only me that has had so much to contend with because I have never really come across anyone in person who has the complicated problems that I have had but when you read everyones stories on here you realise that you are one of many which makes such a difference. I have learnt more from this site than I have from oncologists, surgeons and hospitals and you know that they are all real people with real stories. Amazing.

    The appointment I have is for the results but having read my replies to the question I now realise that you are called in anyway as I diid not have any pre councelling or information so do not have to assume that it is positive because they have called me in. Actually as a result I decided to ring the Clinical Genetics Unit and ask them for the rersults over the phone because I really do not want yet another hospital appointment if it is not necessary. If it is positive I will then make an appointment for further advise as I have five children and 4 granddaughters so may need some counseling and information then.

    Incidently I had a reply from a nurse who told me that there as far as she was aware there was no known link between the cervical cell count result and cervical cancer, well I think that is what she meant but will read her letter again to make sure I have got that right.

    Anyway I was told by the clinic that the registered genetic councellor would ring me to let me have the results so I am just waiting for that now. I will certainly let you all know the rresult.

    I actually had my first de bulking surgery at The Marsden so know it well. I was under Prof Gore and surgery with Prof Shepherd. A wonderful man.

    Best wishes

  • I agree , is so useful to share and support each other , makes it all a lot less scary. Do hope your results are negative x

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