TP53 and Li-Fraumeni Syndrome

pclaradactyl

I'm 26. A couple weeks ago I was diagnosed with Stage II, Grade 3 IDC (triple negative). I was for both of the BRCA genes, but did come back positive for TP53 mutation which is linked to Li-Fraumeni Syndrome. For those unfamiliar, it's a rare genetic disorder that greatly increases my risk of cancer in my lifetime. Breast cancer, but also colon, leukemia, sarcomas, brain, etc. It's a bit scary going into this current treatment knowing that the likelihood of me getting a second cancer in my lifetime is pretty high (truly, it's over 50% that I have a second, the report I got said my risk of cancer by 70 was "nearly 100%" and I have a lot of years before then).

I'm curious if anyone else has been diagnosed with Li-Fraumeni. How's it going?

rrshannon

I had TNBC at 35, I had the genetic panel testing done 4 years ago before my hysterectomy. I was negative for BRACA and most others, I am variant of unknown significance definition for both ATM and Chek2. I was also negative for Lynch Syndrome though with my personal and family history my doctors are treating me with extra screenings as if I am positive.

During my hysterectomy I had precancer in both my endometrium and my fallopian tube. I was very thankful for them to be removed as my maternal grandmother died at 50 from that type of cancer, I was 47 at the time of my surgery. A year later they also found a precancerous polyp in my colon. So early screening for me has been the key.

I have also had a lot of adrenal issues over and actually went into adrenal crisis during a recent surgery and I am now being treated for adrenal insufficiency. So far all my scans have been good though and do not show any growths.

Wising you all the best with your upcoming treatments.