Advances in germline predisposition to acute leukaemias and myeloid neoplasms

JM Klco, CG Mullighan - Nature Reviews Cancer, 2021 - nature.com
Although much work has focused on the elucidation of somatic alterations that drive the
development of acute leukaemias and other haematopoietic diseases, it has become …

Germline risk of clonal haematopoiesis

AJ Silver, AG Bick, MR Savona - Nature Reviews Genetics, 2021 - nature.com
Clonal haematopoiesis (CH) is a common, age-related expansion of blood cells with
somatic mutations that is associated with an increased risk of haematological malignancies …

Somatic mutations in cardiovascular disease

JB Heimlich, AG Bick - Circulation Research, 2022 - Am Heart Assoc
Advances in population-scale genomic sequencing have greatly expanded the
understanding of the inherited basis of cardiovascular disease (CVD). Reanalysis of these …

Driver mutations and prognosis in primary myelofibrosis: Mayo‐Careggi MPN alliance study of 1,095 patients

A Tefferi, M Nicolosi, M Mudireddy… - American journal of …, 2018 - Wiley Online Library
The 2013 discovery of calreticulin (CALR) mutations in myeloproliferative neoplasms was
attended by their association with longer survival in primary myelofibrosis (PMF) …

Clonal hematopoiesis: somatic mutations in blood cells and atherosclerosis

P Natarajan, S Jaiswal, S Kathiresan - Circulation: Genomic and …, 2018 - Am Heart Assoc
The most important prognostic factor for atherosclerotic cardiovascular disease is age,
independent of all other recognized risk factors. Recently, exome sequence analyses …

Clonal hematopoiesis: pre-cancer PLUS

AJ Silver, S Jaiswal - Advances in cancer research, 2019 - Elsevier
Clonal hematopoiesis is a common, age-related process in which a somatically mutated
hematopoietic precursor gives rise to a genetically distinct subpopulation in the blood. This …

Aetiology of myeloproliferative neoplasms

MF McMullin, LA Anderson - Cancers, 2020 - mdpi.com
Myeloproliferative neoplasms (MPNs) have estimated annual incidence rates for
polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis of 0.84 …

[HTML][HTML] MDS1 and EVI1 complex locus (MECOM): a novel candidate gene for hereditary hematological malignancies

T Ripperger, W Hofmann, JC Koch, K Shirneshan… - …, 2018 - ncbi.nlm.nih.gov
Genetic predisposition due to germline mutations in a number of genes (eg, ETV6, GATA2,
and RUNX1) has been recognized as an important cause of myeloid malignancies. In the …

A Broad Overview of Signaling in Ph-Negative Classic Myeloproliferative Neoplasms

A Guijarro-Hernández, JL Vizmanos - Cancers, 2021 - mdpi.com
Simple Summary There is growing evidence that Ph-negative myeloproliferative neoplasms
are disorders in which multiple signaling pathways are significantly disturbed. The …

Heterogeneity in myeloproliferative neoplasms: Causes and consequences

J O'Sullivan, AJ Mead - Advances in biological regulation, 2019 - Elsevier
Myeloproliferative neoplasms (MPNs) are haematopoietic stem cell-derived clonal disorders
characterised by proliferation of some or all myeloid lineages, depending on the subtype …