rs114619974
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs116519313
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs1283441077
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs1316795626
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs1406914931
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs147001633
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs1554481435
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs376570662
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs377577594
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs532738858
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs569067880
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs749210253
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs754215085
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs761064473
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs771761785
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs77375493
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Interestingly, one of the patients with SM and the patient with CNL with JAK2 V617F had a history of lymphoma, and this patient with SM also had associated myelofibrosis and CMML.
|
15860661 |
2005 |
rs77375493
|
|
|
0.080 |
GeneticVariation |
BEFREE |
To study the prevalence of the Val617Phe JAK2 mutation in familial cases of myeloproliferative disorder (MPD) and its possible implication as a predisposing genetic factor, we analyzed 72 families including 174 patients (81 polycythemia vera [PV], 68 essential thrombocythemia [ET], 11 myelofibrosis with myeloid metaplasia [MMM], 12 chronic myeloid leukemia), 1 systemic mastocytosis, and 1 chronic myelomonocytic leukemia (CMML).
|
16537803 |
2006 |
rs77375493
|
|
|
0.080 |
GeneticVariation |
BEFREE |
At the time of MDS to CMML evolution, mutations in JAK2 (V617F), FLT3 (ITD), K-ras-2, or N-ras were not acquired, and only 1 (6%) of 17 evaluable cases showed cytogenetic progression.
|
17050076 |
2006 |
rs77375493
|
|
|
0.080 |
GeneticVariation |
BEFREE |
The results indicate that JAK2(V617F) mutation is associated with clinical and morphological features of the myeloproliferative type of CMML.
|
19734476 |
2009 |
rs77375493
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Moreover, one of the progressed patients harbored the FLT3-ITD and two MP-CMML patients presented with the JAK2 V617F substitution.
|
20371679 |
2010 |
rs77375493
|
|
|
0.080 |
GeneticVariation |
BEFREE |
JAK2 V617F mutation was detected after transformation to CMML in 1 of them; in the other, a novel translocation t(5;12)(p13;q24) was observed at the time of progression to acute leukemia.
|
21658659 |
2011 |
rs121913237
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Using a bone marrow transplant model, we previously showed that ∼ 95% of animals receiving Nras G12D/+ bone marrow cells develop chronic myelomonocytic leukemia (CMML), while ∼ 8% of recipients develop acute T-cell lymphoblastic leukemia/lymphoma [TALL] (TALL-het).
|
21586752 |
2011 |
rs121913507
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Quantitative mutation analysis showed higher levels of mutant KIT D816V in SM-CMML and SM-MDS than in pure SM (P < 0.001).
|
23440662 |
2013 |
rs121913682
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Quantitative mutation analysis showed higher levels of mutant KIT D816V in SM-CMML and SM-MDS than in pure SM (P < 0.001).
|
23440662 |
2013 |
rs1464681682
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study of 226 patients with chronic myelomonocytic leukemia (CMML), mutational frequencies were 40% for SRSF2 (all affecting P95), 6% for SF3B1 (primarily K700E) and 9% for U2AF35 (mostly S34F and Q157P/R).
|
23335386 |
2013 |