Frank G. Rücker

TL;DR: The whole-genome sequencing-based analysis of a Sonic-Hedgehog medulloblastoma brain tumor from a patient with a germline TP53 mutation is reported, uncovering massive, complex chromosome rearrangements and connecting p53 status and chromothripsis in specific tumor types.

TL;DR: TP53 alteration is the most important prognostic factor in CK-AML, outweighing all other variables, including the MK category, and in multivariable analysis for overall survival, TP53 alterations, white blood cell counts, and age were the only significant factors.

TL;DR: Novel insights are revealed into clonal evolution in NPM1mut AML by applying high-resolution, genome-wide, single-nucleotide polymorphism array profiling to detect copy number alterations (CNAs) and uniparental disomies (UPDs) and performing comprehensive gene mutation screening in 53 paired bone marrow/peripheral blood samples obtained at diagnosis and relapse.

TL;DR: A study of leukemia refutes the hypothesis that p53 missense mutations confer new oncogenic functions to the p53 protein, and demonstrates that missense variants in the DNA-binding domain exert a dominant-negative effect (DNE) that confers a selective advantage to hematopoietic cells on DNA damage.

TL;DR: A large spectrum of genomic imbalances, including novel recurring changes in AML with complex karyotypes, was identified using array-CGH, allowing high-resolution genome-wide screening of genomicImbalances.