Article
Heterozygous germ line CSF3R variants as risk alleles for development of hematologic malignancies.
Blood advances - 27 Oct 2020
Trottier Amy M, Druhan Lawrence J, Kraft Ira L, Lance Amanda, Feurstein Simone, Helgeson Maria, Segal Jeremy P, Das Soma, Avalos Belinda R, Godley Lucy A
Abstract excerpt
Colony-stimulating factor 3 receptor (CSF3R) encodes the receptor for granulocyte colony-stimulating factor (G-CSF), a cytokine vital for granulocyte proliferation and differentiation. Acquired activating heterozygous variants in CSF3R are the main cause of chronic neutrophilic leukemia, a hyperproliferative disorder. In contrast, biallelic germ line hypomorphic variants in CSF3R are a rare cause of severe...
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