Germ line JAK2 variants and hereditary blood cancers. - National Genomics Data Center (CNCB-NGDC)

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Germ line JAK2 variants and hereditary blood cancers.

Joseph Cannova, Michael W Drazer

Author Information

Joseph Cannova: Section of Hematology/Oncology, The University of Chicago, Chicago, IL.
Michael W Drazer: Section of Hematology/Oncology, The University of Chicago, Chicago, IL. ORCID

PMID: 40152887 DOI: 10.1182/bloodadvances.2025015810

No abstract text available.

Editorial Comment

JAK2 p.R564 germ line variants associated with hereditary thrombocythemia and hematologic neoplasms.Cooperation of germ line JAK2 mutations E846D and R1063H in hereditary erythrocytosis with megakaryocytic atypia.Germ line variants predispose to both JAK2 V617F clonal hematopoiesis and myeloproliferative neoplasms.Hereditary platelet disorders associated with germ line variants in RUNX1, ETV6, and ANKRD26.Discussing and managing hematologic germ line variants.Discussing and managing hematologic germ line variants.Germ-line sequence variants of PTEN do not have an important role in hereditary and non-hereditary prostate cancer susceptibility.Prognostic tumor sequencing panels frequently identify germ line variants associated with hereditary hematopoietic malignancies.Germ line risk variants: beyond cancer.Germ-line JAK2 mutations in the kinase domain are responsible for hereditary thrombocytosis and are resistant to JAK2 and HSP90 inhibitors.

No available data.