To cut a long story short i’m 27 years old, I had a crazy rare type of breast cancer last year called a malignant phyllodes umour, 3 surgeries and 5 weeks of radiotherapy.
Since then i’ve had genetic testing for something very scary called Li Fraumeni syndrome/Tp53. Basically if I have this altered gene I have a very high chance of developing several types of cancer in my lifetime. The prognosis is not good. It’s very rare so i’m struggling to find anyone in a similar situation to me. I’m also being tested for BRCA1 and 2.
If anyone else has been tested for Li Fraumeni, or has the TP53 genetic fault, please let me know. All I seem to hear is the word ‘rare’, it’s very lonely xxx
You may find more information on the Macmillan site if the gene causes other cancers too .Fingers crossed that you don’t have to deal with it though and the test comes back negative .
I was tested for TP53 along with BRCA1 and BRCA2 but came back negative, I did test positive for the CHEK2 mutation though, which is also quite rare and can cause other cancers too.
I was only given genetic testing after I had my breast cancer, as finally they decided that 3 generations of BC was enough!
Are you in the UK?
I completely understand how you feel about it being scary, I won’t go into all my details unless you want me to, but I also don’t know any one else in the UK that has this gene mutation so I am feeling very alone.
If you want to chat I’ll look forward to hearig from you
Thanks so much for getting back to me. I’ve finally got my appointment through and will be getting the results at the end of September, such a long 4 month wait!
Sorry to hear you’ve got Chek2, I don’t think I’m being tested for that one, but will find out when I go in for results.
I am from UK, I’m in Bristol and am 27. I keep going through every scenario in my head of my consultant giving me good or bad news. Mostly I feel positive everything will be fine, but sometimes the dark thoughts do take over.
LFaye, I’m being tested for a rare one too. I did manage to find a closed group on Facebook, which has been helpful and draws people from across the world. I’ve had a quick search and seen there are groups for li fraumeni and TP53 xxx
Thanks for your reply. I have had my results now and have tested negative for Li Fraumeni but a ‘variant of unknown signifance’ was found in my PTEN gene, which is related to Cowdens syndrome. So I’m having some more tests done to try and determine what that means for me, but they seem at a bit of a loss tbh!
Cowden Syndrome/Cowden Like Syndrome is mine! Still going through testing. The Facebook groups - there are 2 - are very good. Have you had more than one primary? X
Hi, my daughter was diagnosed with breast cancer in March last year, she had two separate tumours both different types of cancer, she had chemo and surgery and has been given the all clear. She has been diagnosed with Li Fraumeni syndrome. She is also 27. It has devastated the whole family and we are so terrified. I have only just been able to start looking on sites like this for information about this horrendous syndrome. I don’t know if reading stuff will help or make me feel a million times worse. My world as been turned upside down watching my beautiful little girl go through the fight of her life and not be able to kiss her better.