Systematic studies of the cancer genome have exploded in recent years. These studies
have revealed scores of new cancer genes, including many in processes not previously …

Recent advances in technological tools for massively parallel, high-throughput sequencing
of DNA have enabled the comprehensive characterization of somatic mutations in a large …

In eukaryotes, post-translational modification of histones is critical for regulation of chromatin
structure and gene expression. EZH2 is the catalytic subunit of the polycomb repressive …

Trimethylation of histone H3 on lysine 27 (H3K27me3) is a repressive posttranslational
modification mediated by the histone methyltransferase EZH2. EZH2 is a component of the …

Recent studies point to a pivotal role of Polycomb repressive complex 2 (PRC2) in stem cell
function and cancer. Loss-of-function approaches targeting individual PRC2 subunits have …

Myeloproliferative neoplasms (MPNs) are clonal disorders characterized by excessive
production of mature blood cells. In the majority of classic MPN—polycythemia vera …

Myelodysplastic syndromes (MDSs) are chronic and often progressive myeloid neoplasms
associated with remarkable heterogeneity in the histomorphology and clinical course …

Somatically acquired genetic abnormalities lead to the salient features that define
myelodysplastic syndromes (MDS): clonal hematopoiesis, aberrant differentiation …

We used trio-based whole-exome sequencing to analyze two families affected by Weaver
syndrome, including one of the original families reported in 1974. Filtering of rare variants in …

Chronic myelomonocytic leukemia (CMML), a myelodysplastic/myeloproliferative neoplasm,
is characterized by monocytic proliferation, dysplasia, and progression to acute myeloid …