Thrombophilia Screening: Little Role for the JAK2V617F Mutation

From: Mayo Clinic Proceedings | Date: April 1, 2008| Author: Peyvandi, Flora; Mannucci, Pier Mannuccio | Copyright information

In the past 2 years, a relatively large number of studies have investigated the prevalence of the somatic JAX2V617F mutation in retrospective cohorts of patients with unexplained venous and arterial thromboembolism,1-3 including a report by Pardanani et al4 published in this issue of Mayo Clinic Proceedings. At a glance, the reason for doing these studies is not obvious, because JAK2V617F is a gain-of-function genetic variant that, unlike the gain-of-function variants of coagulation factor ge...

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