Genetics of MDS

S Ogawa - Blood, The Journal of the American Society of …, 2019 - ashpublications.org
Our knowledge about the genetics of myelodysplastic syndromes (MDS) and related
myeloid disorders has been dramatically improved during the past decade, in which …

Altered RNA processing in cancer pathogenesis and therapy

EA Obeng, C Stewart, O Abdel-Wahab - Cancer discovery, 2019 - AACR
Major advances in our understanding of cancer pathogenesis and therapy have come from
efforts to catalog genomic alterations in cancer. A growing number of large-scale genomic …

H3B-8800, an orally available small-molecule splicing modulator, induces lethality in spliceosome-mutant cancers

M Seiler, A Yoshimi, R Darman, B Chan, G Keaney… - Nature medicine, 2018 - nature.com
Genomic analyses of cancer have identified recurrent point mutations in the RNA splicing
factor–encoding genes SF3B1, U2AF1, and SRSF2 that confer an alteration of function …

Somatic mutational landscape of splicing factor genes and their functional consequences across 33 cancer types

M Seiler, S Peng, AA Agrawal, J Palacino, T Teng… - Cell reports, 2018 - cell.com
Hotspot mutations in splicing factor genes have been recently reported at high frequency in
hematological malignancies, suggesting the importance of RNA splicing in cancer. We …

Targeting an RNA-binding protein network in acute myeloid leukemia

E Wang, SX Lu, A Pastore, X Chen, J Imig, SCW Lee… - Cancer cell, 2019 - cell.com
RNA-binding proteins (RBPs) are essential modulators of transcription and translation
frequently dysregulated in cancer. We systematically interrogated RBP dependencies in …

The augmented R-loop is a unifying mechanism for myelodysplastic syndromes induced by high-risk splicing factor mutations

L Chen, JY Chen, YJ Huang, Y Gu, J Qiu, H Qian… - Molecular cell, 2018 - cell.com
Mutations in several general pre-mRNA splicing factors have been linked to myelodysplastic
syndromes (MDSs) and solid tumors. These mutations have generally been assumed to …

U2AF1 mutations induce oncogenic IRAK4 isoforms and activate innate immune pathways in myeloid malignancies

MA Smith, GS Choudhary, A Pellagatti, K Choi… - Nature cell …, 2019 - nature.com
Spliceosome mutations are common in myelodysplastic syndromes (MDS) and acute
myeloid leukaemia (AML), but the oncogenic changes due to these mutations have not been …

Splicing factor mutations in hematologic malignancies

S Chen, S Benbarche… - Blood, The Journal of the …, 2021 - ashpublications.org
Mutations in genes encoding RNA splicing factors were discovered nearly 10 years ago and
are now understood to be among the most recurrent genetic abnormalities in patients with …

Alternative splicing and cancer: insights, opportunities, and challenges from an expanding view of the transcriptome

S Cherry, KW Lynch - Genes & Development, 2020 - genesdev.cshlp.org
Over the past decade there has been increased awareness of the potential role of
alternative splicing in the etiology of cancer. In particular, advances in RNA-Sequencing …

[HTML][HTML] Genome-guided discovery of cancer therapeutic targets

P Konda, S Garinet, EM Van Allen, SR Viswanathan - Cell Reports, 2023 - cell.com
The success of precision oncology—which aims to match the right therapies to the right
patients based on molecular status—is predicated on a robust pipeline of molecular targets …