May 28, 2019 10:59AM
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?
5/13/2019, IDC, Right, 2cm, Stage IIA, Grade 3, ER-/PR-, HER2-
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Jun 18, 2019 10:28AM
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.
7/2/2003, ILC, Right, 1cm, Stage IA, Grade 2, 0/3 nodes, ER-/PR-, HER2-
7/11/2003 Lumpectomy: Right; Lymph node removal: Sentinel
12/11/2018, IDC, Right, 2cm, Stage IIA, Grade 2, 0/3 nodes, ER+/PR-, HER2- (FISH)
1/17/2019 Cytoxan (cyclophosphamide), Taxotere (docetaxel)
4/15/2019 Lymph node removal: Right; Mastectomy: Left, Right; Prophylactic mastectomy: Left; Reconstruction (left): Tissue expander placement; Reconstruction (right)
5/10/2019 Femara (letrozole)
6/17/2019 Reconstruction (right): Tissue expander placement
9/23/2019 Reconstruction (left): Fat grafting, Saline implant; Reconstruction (right): Fat grafting, Saline implant