Somatic mutations in genes encoding components of the RNA splicing machinery occur
frequently in multiple forms of cancer. The most frequently mutated RNA splicing factors in …

Dysregulation of the flow of information from genomic DNA to RNA to protein occurs within
all cancer types. In this review, we described the current state of understanding of how RNA …

Splicing is a critical processing step during pre-mRNA maturation in eukaryotes. The correct
selection of splice sites during the early steps of spliceosome assembly is highly important …

SF3B1 mutations frequently occur in cancer yet lack targeted therapies. Clinical trials of
XPO1 inhibitors, selinexor and eltanexor, in high-risk myelodysplastic neoplasms (MDS) …

Myelodysplastic syndromes (MDS) represent a heterogeneous group of hematological
disorders and are more commonly found in people over the age of 60. MDS patients exhibit …

Highly recurrent somatic mutations in the gene encoding the core splicing factor SF3B1 are
drivers of multiple cancer types. SF3B1 is a scaffold protein that orchestrates multivalent …

Abstract Benbarche, Pineda, Galvis, et al. delineate an essential role for the G-patch motif-
containing protein GPATCH8 in mis-splicing associated with cancer-driving mutations of the …

The spliceosome is a eukaryotic multimegadalton RNA–protein complex that removes
introns from transcripts. The spliceosome ensures the selection of each exon-intron …

In recent years, large‐scale sequencing efforts have identified targetable driver mutations in
haematopoietic stem cells. These efforts have led to the development and approval of nine …

Myelodysplastic syndromes and other cancers are often associated with mutations in the U2
snRNP protein SF3B1. Common SF3B1 mutations, including K700E, disrupt SF3B1 …