Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23451
Gene Symbol: SF3B1
SF3B1
0.800 GeneticVariation group BEFREE To assess the impact of spliceosome mutations on splicing and to identify common pathways/genes affected by distinct mutations, we performed RNA-sequencing of MDS bone marrow samples harboring spliceosome mutations (including hotspot alterations of SF3B1, SRSF2 and U2AF1; small deletions of SRSF2 and truncating mutations of ZRSR2), and devoid of other common co-occurring mutations. 31680297 2020
Entrez Id: 23451
Gene Symbol: SF3B1
SF3B1
0.800 Biomarker group BEFREE Our meta-analysis suggested that SF3B1 has no impact on OS of patients with MDS, however, an adequately designed prospective study with a large number of patients with different type of SF3B1 mutations is needed to confirm these results. 31812130 2020
Entrez Id: 54790
Gene Symbol: TET2
TET2
0.800 GeneticVariation group BEFREE Mutation of TET2 in patients with MDS may be associated with increased risk of developing AID. 31640337 2020
Entrez Id: 7307
Gene Symbol: U2AF1
U2AF1
0.800 GeneticVariation group BEFREE Mutations of splice factors SF3B1, SRSF2, ZRSR2 and U2AF1 occur in >50% of MDS. 31680297 2020
Entrez Id: 54790
Gene Symbol: TET2
TET2
0.800 GeneticVariation group BEFREE In this study, we performed genome analyses of myelodysplastic syndromes among survivors and found that proximally exposed patients had significantly fewer mutations in genes such as TET2 along the DNA methylation pathways, and they had a significantly higher rate of 11q deletions. 31101757 2020
Entrez Id: 54790
Gene Symbol: TET2
TET2
0.800 GeneticVariation group BEFREE Patient was initially diagnosed with low-risk myelodysplastic syndrome-refractory cytopenias and multilineage dysplasia (MDS-RCMD), progressed to AML after failing hypomethylating agent therapy. 28187034 2019
Entrez Id: 23451
Gene Symbol: SF3B1
SF3B1
0.800 GeneticVariation group BEFREE Patient was initially diagnosed with low-risk myelodysplastic syndrome-refractory cytopenias and multilineage dysplasia (MDS-RCMD), progressed to AML after failing hypomethylating agent therapy. 28187034 2019
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
0.800 GeneticVariation group BEFREE In the phase III MDS-005 study of patients with lower-risk, non-del(5q) myelodysplastic syndromes, lenalidomide was associated with a higher rate of ≥ 8 weeks red blood cell transfusion independence (RBC-TI) compared with placebo, but also with a higher risk of hematologic adverse events (AEs). 30770308 2019
Entrez Id: 2624
Gene Symbol: GATA2
GATA2
0.800 GeneticVariation group BEFREE Genetic predispositions to myeloid malignancies can be classified into three categories: familial cancer syndromes associated with increased risk of various malignancies including myelodysplasia and acute myeloid leukemia such as Li-Fraumeni syndrome and constitutional mismatch repair deficiency (CMMRD); germline mutations conferring a specific increased risk of myelodysplastic syndrome and acute myeloid leukemia such as mutations in ANKRD26, CEBPA, DDX41, ETV6, GATA2, RUNX1, SRP72 genes; and finally primarily pediatric inherited bone marrow failure syndromes such as Fanconi anemia, dyskeratosis congenita, severe congenital neutropenia, Shwachman-Diamond syndrome and Diamond Blackfan anemia. 31203998 2019
Entrez Id: 23451
Gene Symbol: SF3B1
SF3B1
0.800 GeneticVariation group BEFREE SF3B1, which encodes an essential spliceosomal protein, is frequently mutated in myelodysplastic syndromes (MDS) and many cancers. 31474574 2019
Entrez Id: 23451
Gene Symbol: SF3B1
SF3B1
0.800 GeneticVariation group BEFREE Ring sideroblasts (RS) emerge as result of aberrant erythroid differentiation leading to excessive mitochondrial iron accumulation, a characteristic feature for myelodysplastic syndromes (MDS) with mutations in the spliceosome gene SF3B1. 31648334 2019
Entrez Id: 2624
Gene Symbol: GATA2
GATA2
0.800 GeneticVariation group BEFREE Various heteroallelic GATA2 gene mutations are associated with a variety of hematological neoplasms, including myelodysplastic syndromes and leukemias. 30710465 2019
Entrez Id: 54790
Gene Symbol: TET2
TET2
0.800 Biomarker group BEFREE This provides potential avenues to regulate TET2 function in the context of myeloproliferative disorders and myelodysplastic syndromes associated with the JAK2<sup>V617F</sup>-activating mutation.<i>This article is highlighted in the In This Issue feature, p. 681</i>. 30944118 2019
Entrez Id: 23451
Gene Symbol: SF3B1
SF3B1
0.800 GeneticVariation group BEFREE Given that mRNA splicing and nuclear export are coordinated processes, we hypothesised that SF3B1 mutation might also affect export of certain mRNAs and that this may represent a targetable pathway for the treatment of SF3B1-mutant MDS. 30804405 2019
Entrez Id: 23451
Gene Symbol: SF3B1
SF3B1
0.800 Biomarker group BEFREE Metformin, a widely used antidiabetic drug, has previously been demonstrated to exert anti-cancer effects in certain hematological malignancies, but its effects on the transformation of myelodysplastic syndromes to acute myeloid leukemia (AML-MDS) remain unclear. 31744691 2019
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
0.800 GeneticVariation group BEFREE Patient was initially diagnosed with low-risk myelodysplastic syndrome-refractory cytopenias and multilineage dysplasia (MDS-RCMD), progressed to AML after failing hypomethylating agent therapy. 28187034 2019
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
0.800 Biomarker group BEFREE Higher PLA2G4A expression is associated with mutations in NRAS (P < .001), RUNX1 (P = .012), ASXL1 (P = .007), and EZH2 (P = .038), all of which are known to contribute to MDS development. 31738830 2019
Entrez Id: 23451
Gene Symbol: SF3B1
SF3B1
0.800 GeneticVariation group BEFREE Cases of MDS with ring sideroblasts unrelated to SF3B1 mutation were detected in the high-risk group. 30590617 2019
Entrez Id: 54790
Gene Symbol: TET2
TET2
0.800 Biomarker group BEFREE Tet2 knockout mice exhibited expansion of hematopoietic stem and progenitor cells (HSPCs) and developed myeloid and lymphoid disorders, while Tet2 mutant mice predominantly developed myeloid malignancies reminiscent of human myelodysplastic syndromes. 31484061 2019
Entrez Id: 2624
Gene Symbol: GATA2
GATA2
0.800 Biomarker group BEFREE GATA2 and RUNX1 deficiency is not associated with host susceptibility to DNA damage, and therefore, conventional treatment strategies for MDS and AML can be used. 31808891 2019
Entrez Id: 54790
Gene Symbol: TET2
TET2
0.800 GeneticVariation group BEFREE In the phase III MDS-005 study of patients with lower-risk, non-del(5q) myelodysplastic syndromes, lenalidomide was associated with a higher rate of ≥ 8 weeks red blood cell transfusion independence (RBC-TI) compared with placebo, but also with a higher risk of hematologic adverse events (AEs). 30770308 2019
Entrez Id: 54790
Gene Symbol: TET2
TET2
0.800 GeneticVariation group BEFREE Mutations of <i>SF3B1</i> are commonly seen in myelodysplastic syndromes with ring sideroblasts (MDS-RS)and MDS/myeloproliferative neoplasm (MPN-RS-T). 31473630 2019
Entrez Id: 7307
Gene Symbol: U2AF1
U2AF1
0.800 GeneticVariation group BEFREE MacroH2A1.1 mRNA levels are significantly decreased in patients with low-risk MDS presenting with chromosomal 5q deletion and myeloid cytopenias and tend to be decreased in MDS patients carrying the U2AF1 S34F mutation. 31439048 2019
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
0.800 Biomarker group BEFREE Metformin, a widely used antidiabetic drug, has previously been demonstrated to exert anti-cancer effects in certain hematological malignancies, but its effects on the transformation of myelodysplastic syndromes to acute myeloid leukemia (AML-MDS) remain unclear. 31744691 2019
Entrez Id: 23451
Gene Symbol: SF3B1
SF3B1
0.800 Biomarker group BEFREE Mutations in genes such as SF3B1 and IDH1/2 have already had an impact on targeted treatment approaches in MDS. 29791902 2019