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Recurring mutations found by sequencing an acute myeloid leukemia genome.
TLDR
By comparing the sequences of tumor and skin genomes of a patient with AML-M1, recurring mutations that may be relevant for pathogenesis are identified. Expand
Clonal evolution in relapsed acute myeloid leukemia revealed by whole genome sequencing
TLDR
The sequenced primary tumour and relapse genomes from eight AML patients and validated hundreds of somatic mutations using deep sequencing demonstrated that AML relapse is associated with the addition of new mutations and clonal evolution, which is shaped by the chemotherapy that the patients receive to establish and maintain remissions. Expand
The Origin and Evolution of Mutations in Acute Myeloid Leukemia
TLDR
The data suggest that most of the mutations found in AML genomes are actually random events that occurred in HSPCs before they acquired the initiating mutation; the mutational history of that cell is "captured" as the clone expands. Expand
Comprehensive Characterization of Cancer Driver Genes and Mutations
TLDR
This study reports a PanCancer and PanSoftware analysis spanning 9,423 tumor exomes (comprising all 33 of The Cancer Genome Atlas projects) and using 26 computational tools to catalog driver genes and mutations, identifying 299 driver genes with implications regarding their anatomical sites and cancer/cell types. Expand
Recurrent DNMT3A Mutations in Patients with Myelodysplastic Syndromes
TLDR
DNMT3A mutations were expressed in the majority of cells in all tested mutant samples regardless of myeloblast counts, suggesting that DNMT3B mutations occur early in the course of MDS, and may have prognostic value in de novo MDS. Expand
RECURRENT MUTATIONS IN THE U2AF1 SPLICING FACTOR IN MYELODYSPLASTIC SYNDROMES
TLDR
A missense mutation affecting the serine at codon 34 (Ser34) in U2AF1 was recurrently present in 13 out of 150 subjects with de novo MDS, and suggestive evidence of an increased risk of progression to sAML associated with this mutation is found. Expand
DNA sequencing of a cytogenetically normal acute myeloid leukemia genome
TLDR
This study establishes whole-genome sequencing as an unbiased method for discovering cancer-initiating mutations in previously unidentified genes that may respond to targeted therapies. Expand
Oncogenic Signaling Pathways in The Cancer Genome Atlas
TLDR
This work charted the detailed landscape of pathway alterations in 33 cancer types, stratified into 64 subtypes, and identified patterns of co-occurrence and mutual exclusivity. Expand
Clonal architecture of secondary acute myeloid leukemia.
TLDR
Nearly all the bone marrow cells in patients with myelodysplastic syndromes and secondary AML are clonally derived, a dynamic process shaped by multiple cycles of mutation acquisition and clonal selection. Expand
TP53 and Decitabine in Acute Myeloid Leukemia and Myelodysplastic Syndromes.
TLDR
Patients with AML and MDS who had cytogenetic abnormalities associated with unfavorable risk, TP53 mutations, or both had favorable clinical responses and robust (but incomplete) mutation clearance after receiving serial 10-day courses of decitabine. Expand
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