Hi,
I was dx in june last year at 22, massive family history. Was told that I probably had the brac2 gene. Well today I have had a phonecall to say that they havnt found a gene, I may have another one that is really rare! I have an appointment to go back to genetics in manchester.
I am gutted…I really wanted to know, has this happened to anyone else and did they find another gene? I know that i have something, genetics know too. I need to know for future/kids etc.
Emily xx
Hi Emily, I hope you get more info from your genetics dept soon. Not sure if this is of any help but there’s a strong family history on both sides of my family and I don’t have either the BRCA 1 or 2 gene but because of perhaps undiscovered genes my daughter will be invited to screening soon. My sister is also having both breast and ovarian screening because of my diagnosis.
Take Care…x.x.x
Hi
I am being tested for the P53 gene as well as the BRCA1 &2 genes. This particular gene is found to be mutated in families with a lot of history of cancers; not just breast cancer but others such as childhood cancers, sarcomas, stomach cancer etc. I was tested as there is a family history of breast, childhood and other rare types so it could be that you have a mutation of this gene. My genetic counsellor said sometimes they never actually find the gene responsible although there are fairly certain there must be one.
Hope you get some answers soon
That is such a surreal statement to make and so powerful too. Without any gene diagnosis you are kind of powerless to change things. I lived in fear for so long and was relieved when they actually found the BRCA1 gene in my mum’s DNA because it meant I could either relax or take action depending on my results. For you, you do not know and that must be awful, and I know how that feels because I felt all of that growing up and waiting for my mum to get breast cancer. I remember telling my doctor that I guess I would have to wait until my mum got breast cancer before he would actually pay attention to my family history. At the time though he couldn’t have told me either way because the gene had only just been found and he told me that it was highly unlikely that I had a gene too. He was wrong and it took me 20 years to prove him so.
I empathise with where you are at now Emily, have you talked about your options from here? Are you happy screening or would you take preventative measures like me in the face of the uncertainty? It is so complex to make such a decision.
Leigh-ann
Thanks ladies, Leigh-ann, I had cancer last year and am nearly one year in remission. I had a double mstectomy to remove he cancer and also to prevent it coming back in the other breast so I dont need screening. Ws only 22 wen got BC thats why its so frustrating…I KNOW i have something, my mum was only in her 20’s when she had it and all the ther women were also extremely young (aunts, both nan’s and great grandmother)I wnder if there is any sort of research tsting out there that I can go for. Even though Im ok now it would be nice to know tha i can lead a reletivley normal life and not pass anything on to my kids and so they can get tested! Also my poor sister is left with the decision to have te preventative operation or not and she may not even have the “gene”, she was counting on the test results! Im gutted!
x