Implications of TP53 allelic state for genome stability, clinical presentation and outcomes in myelodysplastic syndromes

Fig. 1: Integration of TP53 mutations and allelic imbalances at the TP53 locus identifies TP53 states with evidence of mono- or biallelic targeting.

Dr. Elli Papaemmanuil‘s large international study on myelodysplastic syndrome and acute myeloid leukemia revealed the impact of TP53 gene mutations on blood cancer severity. 25 centers from 12 different countries contributed clinical data for over 4,000 patients.

elsa presenting at ASH — *Dr. Elsa Bernard, first author on the paper and a postdoc in Dr. Papaemmanuil’s lab, presenting the results of the study at the American Association Of Hematology Annual Meeting, December 2019.*

For more information, please see this blog post from MSKCC.

Dr. Papaemmanuil explains further in her Twitter commentary linked below:

Is clinical reporting of acquired gene mutations as present or absent enough to inform cancer diagnosis, risk prognostication and treatment decisions?

A thread on our paper published in @NatureMedicine today: https://t.co/uzRUIFu5yH & commentary https://t.co/JLQKgFfDCo
— Elli Papaemmanuil (@PapaemmanuilLab) August 3, 2020

Finally, you may read the related paper by Bernard et al. on Nature Medicine here.