I'm so sorry to hear your daughters news, I can't imagine how you must be feeling. In the end I was diagnosed with a different genetic disorder, but I know there are support groups on social media for those with Li Fraumeni syndrome, so I hope they will be of help to you and your daughter.
With very best wishes,
I just wanted to send a hug. I'm still unclear what's happening for me, but recognise that fear, as I have a daughter in her 20s also. I hope you all have good local support 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.
heart broken mum 😢
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
Best wishes x
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