Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77375493
rs77375493
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation BEFREE Canonical Janus kinase 2 (JAK2) V617F and exon 12 mutations in myeloid neoplasms are well described. 30811597

2019

dbSNP: rs77375493
rs77375493
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation BEFREE In the current study, we found that suppressor of cytokine signaling proteins 3 (SOCS3) possessed the tumor suppressive activity against the JAK2 V617F mutant-provoked cellular transformation. 31255914

2019

dbSNP: rs77375493
rs77375493
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation BEFREE The expanding scope of creative impact is perhaps most startling-from NCI-funded built environments to AACR Team Science Awarded studies of Asian cancer genomes informing global primary prevention policies; cell-free epigenetic marks identifying incipient neoplastic site; practice-changing genomic subclasses in myeloproliferative neoplasia (including germline variant tightly linked to JAK2 V617F haplotype); universal germline genetic testing for pancreatic cancer; and repurposing drugs targeting immune- and stem-cell signals (e.g., IL-1β, PD-1, RANK-L) to cancer interception. 30530635

2018

dbSNP: rs77375493
rs77375493
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation BEFREE The present study suggests that autophagy as well as the anti-apoptotic BCL-2 family members, regulated at least partly by the mTORC1 pathway downstream of STAT5/Pim-2, protects JAK2-V617F-positive leukemic cells from ruxolitinib-induced apoptosis depending on cell types and may contribute to development of new strategies against JAK2-V617F-positive neoplasms. 29928488

2018

dbSNP: rs77375493
rs77375493
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation BEFREE We herein elucidated the mechanism by which CIS functions as a novel type of tumor suppressor in JAK2 V617F mutant-induced tumorigenesis. 28038963

2017

dbSNP: rs77375493
rs77375493
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation BEFREE These data indicate that the same germ line variants endow individuals with a predisposition not only to MPN, but also to JAK2 V617F clonal hematopoiesis, a more common phenomenon that may foreshadow the development of an overt neoplasm. 27365426

2016

dbSNP: rs77375493
rs77375493
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation BEFREE JAK2 V617F allele burden quantified by real time quantitative polymerase chain reaction and competitive polymerase chain reaction in patients with chronic myeloproliferative neoplasia. 23607255

2014

dbSNP: rs77375493
rs77375493
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation BEFREE Importantly, administration of DFMO effectively delayed tumor formation in nude mice inoculated with transformed cells by JAK2 (V617F), resulting in prolonged survival; therefore, ODC expression through c-Myc is a critical step for JAK2 (V617F)-induced transformation and DFMO could be used as effective therapy for MPNs. 23300995

2013

dbSNP: rs77375493
rs77375493
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation BEFREE Recently, a point mutation in the JAK2 gene, JAK2 (V617F) , was discovered in several myeloid proliferative neoplasms including polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). 23666689

2013

dbSNP: rs77375493
rs77375493
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation BEFREE Measurement of allele burden on day 28 after transplantation discriminates two prognostic groups: patients with a JAK2 p.V617F allele burden >1% have a significantly higher risk of relapse of JAK2 p.V617F positive neoplasia (P=0.04) and a poorer overall survival (P<0.01). 23300178

2013

dbSNP: rs77375493
rs77375493
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation BEFREE In summary, JAK2 V617F-mediated up-regulation of OSM may contribute to fibrosis, neoangiogenesis, and the cytokine storm observed in MPNs, suggesting that OSM might serve as a novel therapeutic target molecule in these neoplasms. 22051730

2012

dbSNP: rs77375493
rs77375493
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation BEFREE The myeloproliferative neoplasms, essential thrombocytosis, polycythemia vera and primary myelofibrosis, share the same acquired genetic lesion, but the concept of JAK2 V617F serving as the sole lesion responsible for these neoplasms is under question, and there has been interest in identifying additional mutations that may contribute to disease pathogenesis. 21712540

2011

dbSNP: rs77375493
rs77375493
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation BEFREE JAK2 V617F, a somatic point mutation that leads to constitutive JAK2 phosphorylation and kinase activation, has been incorporated into the WHO classification and diagnostic criteria of myeloid neoplasms. 22028900

2011

dbSNP: rs77375493
rs77375493
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation BEFREE Moreover, we identified IDH mutations in 2 JAK2 V617F myeloproliferative neoplasias (n = 96), a single case of acute lymphoblastic leukemia (n = 96), and none in chronic myeloid leukemias (n = 81). 20538800

2010

dbSNP: rs77375493
rs77375493
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation BEFREE It has been suggested that TET2 is a tumor suppressor gene and mutations in TET2 precede the acquisition of JAK2-V617F. 20061559

2010

dbSNP: rs77375493
rs77375493
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation BEFREE Mutations in the TET2 gene have been identified in both JAK2 V617F-positive and -negative MPNs and other myeloid neoplasms, but their functional and clinical significance have yet to be clarified. 21082983

2010

dbSNP: rs77375493
rs77375493
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation BEFREE The frequency of JAK2 V617F mutation is about 90% in patients with PV, 50-60% in patients with essential thrombocythemia (ET), primary myelofibrosis (PMF), and less in patients with other myeloid neoplasms, while extremely rare in lymphoid malignancies. 19167611

2009

dbSNP: rs77375493
rs77375493
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation BEFREE We performed a retrospective analysis of JAK2 V617F mutation in Chinese patients with myeloid neoplasms and isolated del(5q), and were able to demonstrate the frequent occurrence of JAK2 V617F mutation in 5q- syndrome. 19562618

2009

dbSNP: rs77375493
rs77375493
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation BEFREE Atypical chronic myeloid leukemia as defined in the WHO classification is a JAK2 V617F negative neoplasm. 18555525

2008

dbSNP: rs77375493
rs77375493
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation BEFREE Our data suggest that WP1066 is active both in vitro and ex vivo and should be further developed for the treatment of neoplasms expressing the JAK2 V617F mutation. 18245540

2008

dbSNP: rs77375493
rs77375493
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation BEFREE We investigated whether low levels of JAK2(V617F) are present in lymphoid neoplasms using a highly sensitive and highly specific amplification refractory mutation system PCR (ARMS-PCR) assay. 18032883

2007