Source: BEFREE

Variant Gene Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77375493
rs77375493
CUI: C0023418
Disease: leukemia
leukemia
0.070 GeneticVariation BEFREE In mice, tamoxifen treatment blocked development of JAK2(V617F)-induced myeloproliferative neoplasm in vivo, induced apoptosis of human JAK2(V617F+) HSPCs in a xenograft model, and sensitized MLL-AF9(+) leukemias to chemotherapy. 25479752

2015

dbSNP: rs77375493
rs77375493
CUI: C0023418
Disease: leukemia
leukemia
0.070 GeneticVariation BEFREE Continued research into how miRNAs impact JAK2(V617F) clonal expansion, differential haematopoiesis among different MPNs, disease progression and leukaemia transformation will lead to a better understanding of the development of these disorders, their clinical manifestations, and their treatment. 23432162

2013

dbSNP: rs77375493
rs77375493
CUI: C0023418
Disease: leukemia
leukemia
0.070 GeneticVariation BEFREE Among the patients with myelofibrosis, those with ASXL1 lesions were not distinguished from their wild-type counterparts with regard to JAK2 V617F status, exposure to chemotherapy or evolution to leukemia. 21712540

2012

dbSNP: rs77375493
rs77375493
CUI: C0023418
Disease: leukemia
leukemia
0.070 GeneticVariation BEFREE JAK2 (V617F)-positive ET may evolve in few instances into JAK2-negative leukemia. 19691103

2009

dbSNP: rs77375493
rs77375493
CUI: C0023418
Disease: leukemia
leukemia
0.070 GeneticVariation BEFREE Moreover, JAK2 V617F mutations in CBF leukemias were associated with an aggressive clinical course with 80% of the patients relapsing. 17229652

2007

dbSNP: rs77375493
rs77375493
CUI: C0023418
Disease: leukemia
leukemia
0.070 GeneticVariation BEFREE Homozygous V617F mutation is associated with the clinical picture of classic PV and with a higher tendency to secondary myelofibrosis, but with no increased leukemia unless other biological or genetic factors come into play, such as myelosuppressive agents or the acquisition of additional biologic or genetic defects. 16810614

2006

dbSNP: rs77375493
rs77375493
CUI: C0023418
Disease: leukemia
leukemia
0.070 GeneticVariation BEFREE We conclude that the JAK2 1849G>T mutation is common in Ph(-) MPD but not critical for transformation to the acute phase of these diseases and that it is generally rare in aggressive leukemias. 16037387

2005