title: The JAK2 V617F somatic mutation, mortality and cancer risk in the general population.
abstract: JAK2 V617F is present in the majority of patients with myeloproliferative cancer; however, its prevalence and clinical significance in the general population is unknown. We screened for presence of the mutation in 10,507 participants from the Copenhagen City Heart Study with up to 17.6 years of follow up. Prevalence of the mutation was 0.2% (n=18). All 18 mutation positives died during follow up corresponding to a multifactorially adjusted hazard ratio for early death of 3.0 (95%CI:1.9-4.9). Corresponding hazard ratios for men versus women and 1-year age increases were 1.4 (1.1-1.9) and 1.1 (1.1-1.1). Multifactorially adjusted hazard ratios for any cancer, hematologic cancer and myeloproliferative cancer were 3.7 (1.7-8.0), 58 (13-261) and 161 (12-2,197), respectively. Corresponding hazard ratios were 1.2 (0.8-2.0), 2.3 (0.2-25), 1.3 (0.3-5.4) for men versus women, and 1.0 (1.0-1.1), 1.1 (0.9-1.2), 0.9 (0.8-1.1) for 1-year age increases. In the general population, JAK2 V617F is associated with increased morbidity and mortality, although only present in 18 of 10,507 (0.2%).
authors.affiliation: Faculty of Health Sciences, University of Copenhagen, Denmark.
authors.forename: Camilla
authors.initials: C
authors.lastname: Nielsen
authors.forename: Henrik S
authors.initials: HS
authors.lastname: Birgens
authors.forename: Børge G
authors.initials: BG
authors.lastname: Nordestgaard
authors.forename: Lasse
authors.initials: L
authors.lastname: Kjaer
authors.forename: Stig E
authors.initials: SE
authors.lastname: Bojesen
mesh_terms: D005260:Female; D019337:Hematologic Neoplasms / Q000097:blood / Q000235:genetics / Q000401:mortality* / Q000473:pathology; D006801:Humans; D053614:Janus Kinase 2 / Q000097:blood / Q000235:genetics*; D008137:Longitudinal Studies; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009196:Myeloproliferative Disorders / Q000097:blood / Q000235:genetics / Q000401:mortality* / Q000473:pathology; D020641:Polymorphism, Single Nucleotide; D011159:Population Surveillance; D016016:Proportional Hazards Models; D012307:Risk Factors; D015996:Survival Rate
chemical_list: D053614:Janus Kinase 2