RNA splicing factors as oncoproteins and tumour suppressors

H Dvinge, E Kim, O Abdel-Wahab… - Nature Reviews Cancer, 2016 - nature.com
The recent genomic characterization of cancers has revealed recurrent somatic point
mutations and copy number changes affecting genes encoding RNA splicing factors. Initial …

The spliceosome as a target of novel antitumour drugs

S Bonnal, L Vigevani, J Valcárcel - Nature reviews Drug discovery, 2012 - nature.com
Several bacterial fermentation products and their synthetic derivatives display antitumour
activities and bind tightly to components of the spliceosome, which is the complex molecular …

Leukemia-associated somatic mutations drive distinct patterns of age-related clonal hemopoiesis

T McKerrell, N Park, T Moreno, CS Grove, H Ponstingl… - Cell reports, 2015 - cell.com
Clonal hemopoiesis driven by leukemia-associated gene mutations can occur without
evidence of a blood disorder. To investigate this phenomenon, we interrogated 15 mutation …

Enasidenib, an inhibitor of mutant IDH2 proteins, induces durable remissions in older patients with newly diagnosed acute myeloid leukemia

DA Pollyea, MS Tallman, S de Botton, HM Kantarjian… - Leukemia, 2019 - nature.com
Older adults with acute myeloid leukemia (AML) who are not fit for standard chemotherapy
historically have poor outcomes. Approximately 12–15% of older patients with AML harbor …

Disease-associated mutation in SRSF2 misregulates splicing by altering RNA-binding affinities

J Zhang, YK Lieu, AM Ali, A Penson… - Proceedings of the …, 2015 - National Acad Sciences
Serine/arginine-rich splicing factor 2 (SRSF2) is an RNA-binding protein that plays important
roles in splicing of mRNA precursors. SRSF2 mutations are frequently found in patients with …

Aberrant splicing of U12-type introns is the hallmark of ZRSR2 mutant myelodysplastic syndrome

V Madan, D Kanojia, J Li, R Okamoto… - Nature …, 2015 - nature.com
Somatic mutations in the spliceosome gene ZRSR2—located on the X chromosome—are
associated with myelodysplastic syndrome (MDS). ZRSR2 is involved in the recognition of …

Randomized phase 2 study of low-dose decitabine vs low-dose azacitidine in lower-risk MDS and MDS/MPN

E Jabbour, NJ Short, G Montalban-Bravo… - Blood, The Journal …, 2017 - ashpublications.org
Hypomethylating agents (HMAs) improve survival in patients with higher-risk
myelodysplastic syndromes (MDS) but are less well-studied in lower-risk disease. We …

Splicing factor mutations and cancer

K Yoshida, S Ogawa - Wiley Interdisciplinary Reviews: RNA, 2014 - Wiley Online Library
Recent advances in high‐throughput sequencing technologies have unexpectedly revealed
that somatic mutations of splicing factor genes frequently occurred in several types of …

Enasidenib in patients with mutant IDH2 myelodysplastic syndromes: a phase 1 subgroup analysis of the multicentre, AG221-C-001 trial

EM Stein, AT Fathi, CD DiNardo, DA Pollyea… - The Lancet …, 2020 - thelancet.com
Background Mutations in isocitrate dehydrogenase-2 (IDH2) occur in around 5% of patients
with myelodysplastic syndromes. Neomorphic activity of mutant IDH2 proteins results in …

The role of ASXL1 in hematopoiesis and myeloid malignancies

S Asada, T Fujino, S Goyama, T Kitamura - Cellular and molecular life …, 2019 - Springer
Recent high-throughput genome-wide sequencing studies have identified recurrent somatic
mutations in myeloid neoplasms. An epigenetic regulator, Additional sex combs-like 1 …