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Article

JAK2 p.R564 germ line variants associated with hereditary thrombocythemia and hematologic neoplasms.

Blood advances - 8 Apr 2025

Stewart Brittany L, Carraway Hetty E, Alvarez Adriana L, Lesmana Harry, Molina John, Tu Zheng Jin, Bosler David S, Gerds Aaron, Jha Babal, Calvaresi Emilia, Nakitandwe Joy, Singh Abhay

Abstract excerpt

ABSTRACT: The Janus kinase 2 (JAK2) V617F mutation activates the transcription pathway and has been well characterized as a driver of myeloproliferative neoplasms (MPNs). Recently, there has been a heightened interest in understanding germ line predisposition to hematologic malignancies such as MPN, including several reports of familial MPN. Here, we retrospectively analyzed medical records and data from genetic...

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Source

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Identifiers

PMID: 39657124
DOI: 10.1182/bloodadvances.2024013661
PMCID: PMC11985050

Genes

JAK2

Variants

Provenance

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