Looking for some advice re my genetic results. Was diagnosed with ER+ Her2+ve BC over two years ago aged 32 and had neo-adjuvant chemotherapy, mastectomy and radiotherapy followed by herceptin. am still on tamoxifen and zoladex. Just had my reconstruction (TUG flap) so nearly at the end of a long road of recovery. The only family history is my aunt has had breast cancer aged 70. The agreed to do genetic testing as my diagnosis was young and although there aren’t many family cases of BC there is a strong family history of various cancers.
Thought the results would be black and white and was going to let the results decide what i did. was not expecting to be told that they don’t know what the results mean. They found a change on the BRAC2 gene but they don’t know if its just a harmless mistake or it is significant. I’m giving them another blood sample as they are going to put my dna into a research project but it could be years before they know anything else. Have still to meet with my oncologist to discuss but I just have no idea if i should be considering a prophlactic mastectomy now? I think i wouldn’t consider removing my ovaries until i know whether i can have a family or not.
has anyone else had a similar experience?
I am in a similar position to yourself- I have a mutation on the BRCA1 gene which they do not know what it is. I was 34 at diagnosis in Jan 07 and have a strong family history of BC on my fathers side (no female survived over 45 without getting and dying from BC).
They have dna’d my parents to try and prove that the gene comes from my dad which would add weight to the fact its genetic and they have also passed my tumour to Guys Hospital in london so they can research it.
Due to my age, my family history and the fact that i was triple negative (as I understand, the majority of genetic cancers and triple negative) they are treating me as a BRCA1 carrier.
I DID have a double mastectomy- once for the cancer and once for prevention, however, this is something I would have chosed to do regardless of whether my cancer was genetic or not.
Because they are treating me as BRCA1 carrier, I am having my ovaries out in 3 weeks time- I am taking no chances! I have already had my children though so my views may have been different if that wasn’t the case.
Hope this helps
suzy this must be so hard for you. i have brca2 and was glad they found fault not glad i have it but because there was cancer on my dad’s mum and dad’s side i was scared it would test negative for brca2 then there were no living relatives on grans side. i would have been all over the place. i have had my ovaries out and am now menopausal at 32yrs however it’s a small price to pay. i will have bi-lateral mastectomy in 6 weeks. please keep us updated . lainey x
Ask genetics for the specific mutation. There are many, many different mutations of the BRCA 1 & 2 genes and each carry different risks. Some are relatively harmless, others are not so its important to know what your mutation is rather than just be told that you have one of either BRCA 1 or 2. I’ve done a lot of research into my particular mutation and have been surprised at how my risks differ compared to someone else who has a BRCA 2 mutation, for example my mutation falls into the ovarian cluster thus indicating I’m more at risk of ovarian cancer than breast, this helped me decide to have an oopherectomy.
They have never seen my mutation before and have no medical knowledge of it- hence the research being done at Guys and the dna of my parents, they do feel strongly that it is a harmful mutation though rather than harmless (think this is based on family history/age and triple neg), hence treating me as BRCA1
helen you are so right, mine is breast and ovarian and brain tumours lainey xx
Thanks for all your messages. Spoke to the geneticist on the phone and they feel that as there have been no other young members of my family with a diagnosis of cancer that it is more likely to be a harmless mistake but I will ask for the specific mutation! Will discuss with my oncologist when I see her on 22nd and see what she says…I’m really keen to have a family and once I stop my zoladex this year i will hopefully have a better idea as to whether I’m still able to have children before making any decisions about my ovaries. It’s very hard to know what to do. My body has had enough without more surgery especially as I’m not even finished the surgery for my reconstruction - am having to put on weight at the moment so they can do lipo suction and fill out my reconstruction in a couple of months - but on the other hand I would take the surgery of another mastectomy/recons any day of the week than have chemo again etc…