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 genetics of myelodysplastic syndrome: from clonal haematopoiesis to secondary leukaemia

AS Sperling, CJ Gibson, BL Ebert - Nature Reviews Cancer, 2017 - nature.com
Myelodysplastic syndrome (MDS) is a clonal disease that arises from the expansion of
mutated haematopoietic stem cells. In a spectrum of myeloid disorders ranging from clonal …

Somatic mutations and clonal hematopoiesis in aplastic anemia

T Yoshizato, B Dumitriu, K Hosokawa… - … England Journal of …, 2015 - Mass Medical Soc
Background In patients with acquired aplastic anemia, destruction of hematopoietic cells by
the immune system leads to pancytopenia. Patients have a response to immunosuppressive …

Genetic abnormalities in myelodysplasia and secondary acute myeloid leukemia: impact on outcome of stem cell transplantation

T Yoshizato, Y Nannya, Y Atsuta… - Blood, The Journal …, 2017 - ashpublications.org
Genetic alterations, including mutations and copy-number alterations, are central to the
pathogenesis of myelodysplastic syndromes and related diseases (myelodysplasia), but …

Role of donor clonal hematopoiesis in allogeneic hematopoietic stem-cell transplantation

M Frick, W Chan, CM Arends, R Hablesreiter… - Journal of Clinical …, 2019 - ascopubs.org
Purpose Clonal hematopoiesis of indeterminate potential (CHIP) occurs in the blood of
approximately 20% of older persons. CHIP is linked to an increased risk of hematologic …

Myelodysplastic syndromes: contemporary review and how we treat

N Gangat, MM Patnaik, A Tefferi - American journal of …, 2016 - Wiley Online Library
Myelodysplastic syndromes (MDS) are a heterogeneous group of clonal stem cell disorders
with an inherent tendency for leukemic transformation. Diagnosis is currently based on the …

Hematopoietic lineage distribution and evolutionary dynamics of clonal hematopoiesis

CM Arends, J Galan-Sousa, K Hoyer, W Chan, M Jäger… - Leukemia, 2018 - nature.com
Clonal hematopoiesis of indeterminate potential (CHIP) occurs in an age-related manner
and associates with an increased risk of hematologic cancer, atherosclerotic disease, and …

Dangerous liaisons: interplay between SWI/SNF, NuRD, and Polycomb in chromatin regulation and cancer

AP Bracken, GL Brien, CP Verrijzer - Genes & development, 2019 - genesdev.cshlp.org
Abstract Changes in chromatin structure mediated by ATP-dependent nucleosome
remodelers and histone modifying enzymes are integral to the process of gene regulation …

BCOR involvement in cancer

A Astolfi, M Fiore, F Melchionda, V Indio… - …, 2019 - Taylor & Francis
BCOR is a gene that encodes for an epigenetic regulator involved in the specification of cell
differentiation and body structure development and takes part in the noncanonical polycomb …

Optical genome mapping reveals additional prognostic information compared to conventional cytogenetics in AML/MDS patients

WM Gerding, M Tembrink… - … Journal of Cancer, 2022 - Wiley Online Library
Cytogenetic diagnostics play a crucial role in risk stratification and classification of myeloid
malignancies such as acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS) …