Testing for 'faulty' genes

Just wondering if other Ovacome users have gone through genetic testing also? Am being screened for the BRCA1 / BRCA2 gene mutations - and finding it is upsetting me more than I thought it would (not least because I'm afraid of passing it on if I manage to have a child). I'm interested in the ways others have experienced the genetics issues, whether it's a relief in some ways to find out, and how others found the wait for the results.

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  • Hi Catherine

    I'm a ROCC from Oxfordshire and lost my daughter to oc 6 years ago. Although I don't have oc myself, both my other daughter and I were offered genetic testing. I accepted and after a simple blood test spent several weeks wondering if I had inflicted this awful thing on my family as I had several members of my adult family with ovarian, pancreatic, testicular and bowel cancer. My test was negative thankfully but my daughter and her children were advised to have further tests when they became 18 and she 40. I was surprised that a predisposition to prostate cancer can be picked up in these cases, as well as male breast cancer.

    It's easy to say try not to worry but you know you are doing a good thing and possible early warning for other members of your family. Forewarned is forearmed as they say. Good luck.

    Jennie

  • Catherine totally understand what you're going through. Here's my story I hope it give you some comfort.

    It all begins with my aunt who died from breast cancer 30 odd years ago...... Then 17 years ago my mother was diagnosed with breast cancer, she was successfully treated and is alive and well. It was some years after this that family first came in contact with the Genetics side of medicine. I persuaded a somewhat reluctant mother to have the BRAC test. Our family history of breast/prostate cancer goes back 3 generations, so I took it upon myself to find out if 'THE GENE' runs in the family. My mother tested positive for the BRAC1 gene. Now for the first time we had evidence that hormonal cancer is present in our family, carried by my Great Grandmother,then my Grandfather, his sister, my aunt and finally my mother . Are you following the story so far????

    I then took the decision to be tested, I wanted to have as much information as possible to enable me to be prepared for any future illness. I hasten to add that I already had had my own children by this point 2 girls!

    I unfortunately tested positive for the gene, my sister and brother both took the decision to be tested. My sister negative and my brother positive. So with the 50% chance of inheriting the gene, 2 of my mother's three children have BRAC1.

    I started having annual mammograms 10 years ago and 6 years ago under the umbrella of the genetics unit at St George's in London start having annual trransvaginal scans CA125 tests and check ups with the gynie team to screen for OC. My mother was advised of have a prophylactic oophorectomy to reduce her risk of OC (she is in her early 70s).

    I continued to be monitored by the genetics team and decided after discussions with my breast care nurse to have a prophylatic oophorectomy (I was 45 and had finished my family). The main reason for my decision was that this procedure would cut my breast cancer risk from 80% to 50%, it was a no brainer as far as I was concern.

    So last July I had the op in a day surgery unit, was immediately put into the surgical menopause, opted for HRT to help me with the symptoms. Three weeks later, following the pathology results on samples taken from my ovaries it was discovered I had OC. The news was devastating and I was totally unprepared for it. The OC screening had not picked up any evidence of disease. I knew my breast cancer risk was high but didn't take on board the 50% OC risk!

    August and September last year were a whirl of hospital appointments and more surgery to remove uterus, lymph nodes and omentum. Finally the doctors staged my OC at stage2c. All disease microscopic(no tumour) and no spread to lymph. But they found cells in the abdomen so it was decided I needed 6 cycles of chemo.

    So here I am 1 year on, writing this blog to you. This is my 151 day in remission and I'm getting stronger everyday. My decision to take the family into the testing/monitoring world of genetics helped catch my OC early. Even my mum eventually admitted that it was the right decision.

    I like my mother now have to deal with the knowledge that I might have passed it on to my girls and my brother to his son and daughter. My cousins are in the process of being tested too so I like to think that I might be instrumental in stopping members of my family dying from BRAC related cancers.

    My girls will be tested when they are old enough to make that decision for themselves, they are 16 and 14. I know you can now have embryo screening for BRAC so in the future the gene could be 'screened' out of our family.

    I hope that reading this helps you. Good luck with your journey into the world of genetics, it can be traumatic and get you down but for me it has been a life saving experience!

    SarahM

  • I was diagnosed with OC in l996 and when I also developed breast cancer in 2007 it was suspected and confirmed that I had BRACA 1. My two children and other relevant members of my family were offered counselling and testing. After receiving counselling my daughter decided to postpone having the test. However, as time went on she convinced herself that she had inherited the faulty gene so decided, at the age of 30 to go ahead with the test. She had a very worrying month waiting for the result and I know what a difficult time this must be for you too. Despite her worst fears her test was negative. As you can imagine we were all delighted with this news. Unfortunately my son was not so lucky and his test was positive and can now potentially pass this on to his future children. I can only wish you the same good result as my daughter, but remember should you prove to have the faulty gene you will be able to have screening and receive good advice from your genetics team. I believe there are new treatments being researched which may be particularly useful to those of us with BRACA genes. Despite having both cancers I have survived for 15 years so far. As for getting through this month, I can only suggest that you treat yourself to theatre/cinema tickets, meet up with friends - anything to keep you busy and your mind occupied. My very best wishes to you. Sue

  • Hi, im 28 and lost my sister to ovarian cancer 3 years when she was also 28. Before she died she was tested for brca2 and tested positive.also tested positive for brca2. Last june i had a double mastectomy to reduce my risk and eventually i will have a hysterectomy. But i want to have children first which will hopefuly happen next year. I am tossing and turning about wether to have children naturally and risk the chance of passing on the gene or wether to go through pre-implantation screening. Being tested was a very hard and scarey time but ultimatly i believe that knowledge is power.Having said that finding out isnt for everybody and if you dont want to know then you dont have too. Waiting for results wasnt too bad as they gave me the letter with the appointment on the day of the blood test so i knew exactly when the appointment would be. I waited exactly one month. Somehow i knew i would test positive. I think my response when i was told was somthing like "oh i know" .

  • Hi Nicki,

    Thanks so much for sharing your story with me. As you say, knowledge is power, and to be honest for me, not finding out doesn't feel like an option. I was diagnosed with ovarian cancer last year at age 33 and have a sister, and there's no way I want her to go through all I have if I can help prevent it! I'm sure your sister felt the same.

    Having said that, I can see that for you the gene result has meant trauma and change, having to have the mastectomy, and the prospect of a hysterectomy. (I face eventual hysterectomy but have been given a chance to try to have a baby using IVF). I do feel strongly that if I can spare my sister anything I want to, but I realise that a positive result would mean her life will be put into turmoil aswell, even if that might mean she is forewarned about the risks.

    I'm stil waiting for the genetics results - not sure why but here in Dundee it will take 4 months to come back! But I am very much reflecting on the pre-implantation diagnostic option and have been told it would be available if I carry a mutation. Having gone through what I have, at the moment I'm erring on the side of thinking I would definitely ask for it if needed. However I only have 4 eggs left, frozen in storage (!) so if the doctors say that the pre-implantation diagnosis might harm them or make IVF less likely to work, then I'd really have to re-think, as I have no children and my dearest wish is to have a family. Big decisions anyway but I'm trying to take it one step at a time!!

    Thanks again Nicki for your message it was great hearing from someone in a similar position.

    Love

    Cat x

  • Oh your more than welcome. Somtimes its good "therapy" for me to talk about it all. There is no doubt that its all traumatic! Your a brave lady and i cant imagine how difficult it must be to have to wait 4 months for your results. I would have gone crazy!

  • Hi Nicky,

    I'm glad it helps you too to talk about it.I don't feel brave in the slightest by the way! It helps me such a lot when I know the person I'm chatting too has personal experience of the same or similar things, and this site has been fantastic for that. Friends are great too but genetics and cancer are not exactly topics you can easily drop into a conversation over a cuppa eh! It's just much easier sometimes if you know you're talking to someone who's faced or facing the same things. To be honest I'm over the '4 months' thing a bit now - there's nothing they can do about it anyway - and my life has already been turned upside down, so I'm happy (if that's the right word!) to hang on and see what the results are, then to try IVf again knowing the full picture. I was due for more IVF in November and it's just one month more to wait, and I feel I'm doing the right thing to wait and find out so I can avoid passing the gene on if I have it. I have now got 'creative time wasting' down to a fine art!!

    Thanks again for your reply Nicky and take good care!

    Love

    Cat xxx

  • Oh I'm glad you posted this as it's something I've been worried about having 2 little girls myself. Do you just ask your consultant to test you? There is so much cancer in my mums side of the family but not breast or OC so maybe I was got unlucky. My grandfather did die in March of prostate cancer however. I have a OC diagnoisis now at 33 - borderline last year at 32.

  • Hi Caroline,

    yes I asked my GP to refer me. Apparently though if your consultant thinks you are high risk, he/she should refer you directly at diagnosis. I think it's worth doing but that's just me.

    love

    Cat xx

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