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Topic: TP53 and Li-Fraumeni Syndrome

Forum: Genetic Testing —

ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, NBN, NF1, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53, and mismatch repair genes (MLH1, MSH2, MSH6, PMS2, EPCAM)

Posted on: May 28, 2019 10:59AM

pclaradactyl wrote:

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?

Dx 5/13/2019, IDC, Right, 2cm, Stage IIA, Grade 3, ER-/PR-, HER2-
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Jun 18, 2019 10:28AM rrshannon wrote:

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.

BRCA Negative. Dx 7/2/2003, ILC, Right, 1cm, Stage IA, Grade 2, 0/3 nodes, ER-/PR-, HER2- Surgery 7/11/2003 Lumpectomy: Right; Lymph node removal: Sentinel Chemotherapy 7/23/2003 AC Radiation Therapy 10/30/2003 Dx 12/11/2018, IDC, Right, 2cm, Stage IIA, Grade 2, 0/3 nodes, ER+/PR-, HER2- (FISH) Chemotherapy 1/17/2019 Cytoxan (cyclophosphamide), Taxotere (docetaxel) Surgery 4/15/2019 Lymph node removal: Right; Mastectomy: Left, Right; Prophylactic mastectomy: Left; Reconstruction (left): Tissue expander placement; Reconstruction (right) Hormonal Therapy 5/10/2019 Femara (letrozole) Surgery 6/17/2019 Reconstruction (right): Tissue expander placement Surgery 9/23/2019 Reconstruction (left): Fat grafting, Saline implant; Reconstruction (right): Fat grafting, Saline implant

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