Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397507476
rs397507476
BRAF
G 0.700 GeneticVariation CLINVAR Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. 19206169

2009
dbSNP: rs121913459
rs121913459
ABL1
0.100 GeneticVariation BEFREE KW-2449, a multikinase inhibitor of FLT3, ABL, ABL-T315I, and Aurora kinase, is under investigation to treat leukemia patients. 19541823

2009
dbSNP: rs121913459
rs121913459
ABL1
0.100 GeneticVariation BEFREE Some emerging aurora kinase inhibitors, such as VX-680, PHA-739358, MK-0457 and AS703569, and Smo1 and Hedgehog (Hh) inhibitors promise clinical efficacy against the Bcr-Ab T315I mutant form and leukaemia stem cells, respectively. 19959093

2009
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.100 GeneticVariation BEFREE JAK2 (V617F)-positive ET may evolve in few instances into JAK2-negative leukemia. 19691103

2009
dbSNP: rs1217691063
rs1217691063
MTHFR
0.070 GeneticVariation BEFREE Recipient MTHFR polymorphisms (C677T) were associated with acute GvHD (P=0.03), and recipient VDR TaqI with TRM and overall survival (P=0.006 and P=0.04, respectively).Genetic factors that interfere with drug metabolisms are associated with treatment-related toxicities, GvHD and survival after HLA-identical HSCT in patients with leukemia and should be investigated prospectively. 19005482

2009
dbSNP: rs121434592
rs121434592
AKT1
0.050 GeneticVariation BEFREE The E17K change results in constitutive AKT1 activation, induces leukaemia in mice, and accordingly, may be therapeutically exploited to target the PI3K pathway. 19461960

2009
dbSNP: rs1360131632
rs1360131632
STAT5A
0.030 GeneticVariation BEFREE KW-2449, a multikinase inhibitor of FLT3, ABL, ABL-T315I, and Aurora kinase, is under investigation to treat leukemia patients. 19541823

2009
dbSNP: rs748843032
rs748843032
MTTP
0.030 GeneticVariation BEFREE KW-2449, a multikinase inhibitor of FLT3, ABL, ABL-T315I, and Aurora kinase, is under investigation to treat leukemia patients. 19541823

2009
dbSNP: rs121913615
rs121913615
MPL
0.010 GeneticVariation BEFREE We conclude that MPL(W515L) occurs in a considerable proportion of acute megakaryoblastic leukaemias with myelofibrosis unrelated to PMF. 19194467

2009
dbSNP: rs749140677
rs749140677
VDR
0.010 GeneticVariation BEFREE Recipient MTHFR polymorphisms (C677T) were associated with acute GvHD (P=0.03), and recipient VDR TaqI with TRM and overall survival (P=0.006 and P=0.04, respectively).Genetic factors that interfere with drug metabolisms are associated with treatment-related toxicities, GvHD and survival after HLA-identical HSCT in patients with leukemia and should be investigated prospectively. 19005482

2009
dbSNP: rs774164690
rs774164690
IKZF1
0.010 GeneticVariation BEFREE Some emerging aurora kinase inhibitors, such as VX-680, PHA-739358, MK-0457 and AS703569, and Smo1 and Hedgehog (Hh) inhibitors promise clinical efficacy against the Bcr-Ab T315I mutant form and leukaemia stem cells, respectively. 19959093

2009
dbSNP: rs121913459
rs121913459
ABL1
0.100 GeneticVariation BEFREE Although many imatinib-resistant mutations respond well to second-generation TKIs, the threonine-to-isoleucine mutation at codon 315 of the breakpoint cluster region/v-abl Abelson murine leukemia viral oncogene protein fusion Bcr-Abl (T315I) is insensitive to all currently available TKIs. 20564073

2010
dbSNP: rs121913459
rs121913459
ABL1
0.100 GeneticVariation BEFREE Although strategies to overcome resistance-mediated T315I mutation may improve the survival of BCR-ABL-positive leukemia patients, there is little information on cell-based studies. 20471447

2010
dbSNP: rs121434592
rs121434592
AKT1
0.050 GeneticVariation BEFREE Recently, the E17K mutation in the AKT1 has been associated with multiple human malignancies and leukemia in mice. 20440266

2010
dbSNP: rs121913507
rs121913507
KIT
0.040 GeneticVariation BEFREE In most patients with systemic mastocytosis (SM), including aggressive SM (ASM) and mast cell (MC) leukemia (MCL), neoplastic cells express the oncogenic KIT mutation D816V, which confers resistance to imatinib. 20553795

2010
dbSNP: rs121913682
rs121913682
KIT
0.040 GeneticVariation BEFREE In most patients with systemic mastocytosis (SM), including aggressive SM (ASM) and mast cell (MC) leukemia (MCL), neoplastic cells express the oncogenic KIT mutation D816V, which confers resistance to imatinib. 20553795

2010
dbSNP: rs1801132
rs1801132
ESR1
0.010 GeneticVariation BEFREE The minor G allele of rs1801132 was protective in our cases (p = 1 × 10(-4)); for rs2228480, the heterozygous frequency was higher for cancer groups (p = 0.03); the SNP pairs rs2228480&rs3798577 and rs2234693&rs9340799 were in low LD; the haplotypes T-A of rs2234693&rs9340799 and G-C of rs2228480&rs3798577 showed a trend to be higher represented in breast cancers; T allele of rs2234693 was higher expressed in breast, colon cancers and leukemia; rs2077647 was associated with colon (p = 0.008, C-risk allele) and bladder (p = 0.01, T-risk allele) cancers. 20383761

2010
dbSNP: rs2077647
rs2077647
ESR1
0.010 GeneticVariation BEFREE The minor G allele of rs1801132 was protective in our cases (p = 1 × 10(-4)); for rs2228480, the heterozygous frequency was higher for cancer groups (p = 0.03); the SNP pairs rs2228480&rs3798577 and rs2234693&rs9340799 were in low LD; the haplotypes T-A of rs2234693&rs9340799 and G-C of rs2228480&rs3798577 showed a trend to be higher represented in breast cancers; T allele of rs2234693 was higher expressed in breast, colon cancers and leukemia; rs2077647 was associated with colon (p = 0.008, C-risk allele) and bladder (p = 0.01, T-risk allele) cancers. 20383761

2010
dbSNP: rs2228480
rs2228480
ESR1
0.010 GeneticVariation BEFREE The minor G allele of rs1801132 was protective in our cases (p = 1 × 10(-4)); for rs2228480, the heterozygous frequency was higher for cancer groups (p = 0.03); the SNP pairs rs2228480&rs3798577 and rs2234693&rs9340799 were in low LD; the haplotypes T-A of rs2234693&rs9340799 and G-C of rs2228480&rs3798577 showed a trend to be higher represented in breast cancers; T allele of rs2234693 was higher expressed in breast, colon cancers and leukemia; rs2077647 was associated with colon (p = 0.008, C-risk allele) and bladder (p = 0.01, T-risk allele) cancers. 20383761

2010
dbSNP: rs2234693
rs2234693
ESR1
0.010 GeneticVariation BEFREE The minor G allele of rs1801132 was protective in our cases (p = 1 × 10(-4)); for rs2228480, the heterozygous frequency was higher for cancer groups (p = 0.03); the SNP pairs rs2228480&rs3798577 and rs2234693&rs9340799 were in low LD; the haplotypes T-A of rs2234693&rs9340799 and G-C of rs2228480&rs3798577 showed a trend to be higher represented in breast cancers; T allele of rs2234693 was higher expressed in breast, colon cancers and leukemia; rs2077647 was associated with colon (p = 0.008, C-risk allele) and bladder (p = 0.01, T-risk allele) cancers. 20383761

2010
dbSNP: rs3798577
rs3798577
ESR1
0.010 GeneticVariation BEFREE The genotypes CC and CT of rs3798577 were significantly associated with the cancers risk (p-trend breast = 4 × 10(-5); p-trend cancers = 1 × 10(-5)); in discrepancy with breast cancer where the C-allele represented the risk allele, for bladder, hepatocellular carcinomas and leukemia, the T allele seems to confer susceptibility. 20383761

2010
dbSNP: rs780634396
rs780634396
BCL2
0.010 GeneticVariation BEFREE Recently, the E17K mutation in the AKT1 has been associated with multiple human malignancies and leukemia in mice. 20440266

2010
dbSNP: rs869312953
rs869312953
JAK1
0.010 GeneticVariation BEFREE Finally, we also showed in an in vivo leukemia model that cells expressing JAK1(A634D) are hypersensitive to the antiproliferative and antitumorigenic effect of type I IFN, suggesting that type I IFNs should be considered as a potential therapy for ALL with JAK1-activating mutations. 20167706

2010
dbSNP: rs121913459
rs121913459
ABL1
0.100 GeneticVariation BEFREE Allogeneic stem cell transplantation for patients harboring T315I BCR-ABL mutated leukemias. 21926354

2011
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
0.100 GeneticVariation BEFREE Mutations in the thrombopoietin receptor gene (myeloproliferative leukemia, MPL) have been reported in patients with JAK2 V617F-negative chronic myeloproliferative disorders (MPDs). 21326037

2011