TY - JOUR
T1 - The JAK2 V617F somatic mutation, mortality and cancer risk in the general population
AU - Nielsen, Camilla
AU - Birgens, Henrik S
AU - Nordestgaard, Børge G
AU - Kjaer, Lasse
AU - Bojesen, Stig E
PY - 2011
Y1 - 2011
N2 - 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%).
AB - 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%).
U2 - http://dx.doi.org/10.3324/haematol.2010.033191
DO - http://dx.doi.org/10.3324/haematol.2010.033191
M3 - Journal article
VL - 96
SP - 450
EP - 453
JO - Acta Haematologica Polonica
JF - Acta Haematologica Polonica
SN - 0001-5814
IS - 3
ER -