Risk reducing surgery due to myself and sister being diagnosed at an early age - please help!

[mickey24]

Hi ladies

I have just posted under a new thread. My genetic test came back with no mutations found but a variant of unknown significance in the ATM gene was found which is linked to breastcancer. Apparently there is not enough data to say if that particular variant causes breastcancer. It's really difficult now, to know what to do do ! Do I just sit back and hope it proves to be insignificant or do I not take any chances and act now? What to do! Am seeing my consultant in 10'days time to discuss, but any thoughts would be much appreciated. Thanks Michelle xx

[Weeannie1]

Thanks for the info Michelle. Will get my little fingers googling ASAP to find out more. X x x

[mickey24]

Hi ann

The test is for PALB2 if you google it you will find more information about it. The breastcare nurse I saw said it is offered to patients in America but sadly not here on the NHS, I really hope it becomes available as I'm sure there are many others in similar positions to us, and like you say could save the NHS a lot of money in the long run. Hopefully I'll be lucky and my insurance will pay,....we will see! Xx

[Weeannie1]

I've never heard of this new genetic test, but would be very interested in finding out about it. I hope that your insurance co will pay for it, but if they won't, will the NHS pick up the tab? Seems a no brainer to me to invest £3k now to save a possible £18k should your cancer return (and I've got everything I've got two of crossed that it'll never happen!!). Not sure if that was why my surgeon was so sympathetic to my plea for a mastectomy. The NHS would've saved a small fortune by carrying out pre-emptive surgery on me all those years ago. Whatever happens, please keep us posted and I hope you get a negative result to the new genetic test too. Take care Ann x x

[mickey24]

Hi Just to let you know that I had appointment today, basically the consultant has advised me to firstly have another genetic test which is a new one , myriad genetics which looks at 25 different genes. My understanding is it is only available in a handful of private hospitals in the uk and it is blooming expensive 3k!! I am going to see if my insurance co will pay for this . Whatever the outcome he thinks I should have my ovaries removed and continue taking tamoxifen for 10 years. Has anyone else heard of this new gene test? My consultant says 10% of his patients have had positive test results.....

[Weeannie1]

Feel very fortunate to have a supportive team. But, I did request a double mastectomy around 6 years ago because I felt sure that something wasn't right. At that point the surgeon I saw was very dismissive to the point of telling me that my one in four chance of getting breast cancer wasn't much worse than the general public's chance of one in eight. Actually left that meeting with my tail between my legs feeling that I was just wasting everyone's time. That's why as the thickening in my breast increased, I didn't make a fuss. How I wish I'd stood my ground all those years ago. My new surgeon is totally different. He actually said that peace of mind is as important as treating the disease itself. I so hope you get the answers you're looking for tomorrow, and please do not allow yourself to be put off surgery if you feel in your heart that it's what you need to make you feel truly well. All the best and please let us know how you get on. Ann x x x

[mickey24]

Thankyou so much for your reply Ann, it sounds like you've got a great consultant, I'm sure there are a lot more genetically linked breast cancers which carry unidentified genes ....I just don't want to take any more chances as my cancer was missed once already, so will be interesting to get second opinion tomorrow. Oh how I hate this b&@@£& disease! Michelle x

[Weeannie1]

Hi Michelle,

I soooo relate to parts of your story. My maternal aunt died of breast cancer at age 42 after battling the disease for several years. This was back in the seventies, and there was no genetic testing, or even chemo at that point. Then in 1981, my mum was diagnosedwith BC aged 46. My aunt had left my mum a list of symptoms that she'd had for several years before she could get anyone to pay any attention to her. My mum initially really struggled to get her GP to refer her to the breast clinic. Thank goodness she persevered, as she did indeed have breast cancer. In those days, a radical mastectomy was the chosen treatment, and her cancer was so early that she didn't even require rads. My sister and myself were put forward for screening, and we both had three yearly mammograms followed by yearly ones after age 40. I myself was aware of a thickening in my breast around the age of 44. I kept going back to the breast clinic, and they kept telling me there was nothing wrong. Finally, age 50 I went back to my GP and again was referred to the breast clinic. It was then that I was diagnosed with a 37mm lobular cancer. This type of cancer can be difficult to see on mammogram, plus I'd had a fibrous lump removed in my early 40s which had left quite a bit of scar tissue, so again this meant my mammograms were more difficult to read. I had a lumpectomy, followed by chemo and rads and immediately went for BRACA testing which came back negative. My mother had meanwhile met a maternal cousin who told her that another three of my mothers relatives have had/died of BC. I went back to my surgeon, and after consultation, have been put on an elective waiting list for double mastectomy with recon. My surgical team have been fantastic at listening to my fears and feel that it's more than probable that there is a genetic link in my family, just not the BRACA 1 or 2 genes. I feel much happier knowing that at some point, my chances of recurrence will be greatly reduced by having the op.

Sorry for droning on so long! Hope it's of some use to you.

Take care, Ann x x

[mickey24]

I hope some of you lovely ladies might be able to give me some advice and if anyone has been in a similar position I would love to hear from you. So ....history is my sister was diagnosed with grade 3 breastcancer at the age of 28 and died at the age of 32. I was advised by my local screening centre to have annual mammograms as I was at "moderate risk" and therefore I have been having these since 2007. In 2010 I saw the genetics team at St George's who advised me not to have the BRCA test as my sister was the only close relative to have had the disease. In fact, I was told that my chances of being diagnosed before the age of 47 was 1%. I won't bore you with the details but despite two referrals for a thickening I could feel in late 2010 I was told that the areas of white on the ultrasound were nothing to worry about (mammograms still "clear" ) Fast forward to May 2012 after yet another referral for the same thickening I am eventually diagnosed with breastcancer grade two and spread to nodes, age 45 . Had lumpectomy, chemo and rads. My consultant advised that a mastectomy was not necessary as it would add little benefit. Having spoken to a lovely lady on the breast cancer care helpline she strongly suggested I get a second opinion re risk reducing surgery, so tomorrow I have an appointment at the princess grace hospital in London. Bearing in mind that two out of three sisters have been diagnosed it seems a bit more then coincidence to me. I have now had the BRCA gene test which was negative, but I can't help feeling that there must be an unidentified faulty gene due to our ages. ...What do you lovely ladies think? any advice or sharing your own experience would be greatly appreciated. Thankyou! Michelle x