Table 1: (a) MDS molecular landscape. (b) Benzene molecular landscape.


Somatic mutations
CTCFZinc finger protein[30]
FANCLDNA cross-link repair in Fanconi anemia[30]
RAD21Cohesin complex-sister chromatid separation[30, 31]
SMC1ACohesin complex-sister chromatid separation[30, 31]
SMC3Cohesin complex-sister chromatid separation[30, 31]
STAG2Cohesin complex-sister chromatid separation[30, 31]
TET2DNA hydroxymethylation[30, 31]
IDH1/2DNA methylation[30]
DNMT3ADNA methylation [30, 31]
SETBP1Gain of function[31]
ASXL1Histone modification [30, 31]
EZH2Histone modification [30, 31]
LAMB4Loss of expression in cancer with microsatellite instability [30]
NF1Ras pathway[30]
RIT1Ras pathway activation[31]
JAK2Signal transduction[30, 31]
N-/K-RASSignal transduction [30, 31]
SF3B1Spliceosome[30, 31]
ZRSR2Spliceosome[30, 31]
SRSF2Spliceosome [30, 31]
U2AF1Spliceosome [30, 31]
ETV6Transcription factor[30, 31]
IRF1Transcription factor[30]
RUNX1Transcription factor [30, 31]
CEBPATranscription factor myeloid differentiation[31]
WT1Transcription factor myeloid differentiation[31]
TP53Transcription factor, tumor suppressor [30, 31]
BCOR/L1Transcription repressor[30, 31]
PHF6Transcription factor[30]
ATMAtaxia telangiectasia mutated gene[30]

ATMRecognizing and repairing DNA lesions[42]
JAK3Variants unrelated to MDS[42]
KDRMediates VEGF’s responses to angiogenesis[42]
STK11 Variants unrelated to MDS [42]
VEGF/VEGFRControversial findings with cancer risk[42]
RAD51DNA repair[48]
XRCC5 DNA repair[48]
XRCC6DNA repair[48]
TGFMDS disease progression[49]
TNF-Increase anemia and thrombocytopenia in MDS[38]
GSTP1 Increased risk in MDS[35]
GSTT1Increased risk MDS[50]
RAD51Increased risk MDS[41]
MDR-1 Multidrug resistant, protective against MDS[36]
TNF-No effect in MDS[49]
NQO1No effect in MDS [35]
TP53Polymorphism not involved in MDS[51]
BCL2L10Reduced risk MDS[42]



Somatic mutations caused by benzene
DNMT1Decreased mRNA expression[45]
DNMT3ADecreased mRNA expression[45]
DNMT3BDecreased mRNA expression[45]
MBD2Decreased mRNA expression[45]
PARP1Decreased mRNA expression[45]
Glycophorin AInduction of gene duplication[47]
RUNX1Transcription factor [43]

Polymorphism of benzene susceptibility
BLM Modulation of DNA repair[29, 39]
RAD51 Modulation of DNA repair[29, 39]
TP53 Modulation of DNA repair[29, 39]
WDR79 Modulation of DNA repair[29, 39]
WNR Modulation of DNA repair[22]
XRCC1Modulation of DNA repair[37]
VCAM1Altered adhesion[53]
IL-12Altered function polymorphism[43]
MPOAltered function polymorphism[43]
NQO1Altered function polymorphism[52]
IL-10Cytokine activity[32]
IL-12ACytokine activity [32]
IL-1aCytokine activity[32]
IL-4Cytokine activity[32]
GSTM1Detoxification of exogenous compounds[54]
VEGFEndothelial cytokine[53]
TNF-Inflammatory cytokine[39]
APEX1Male restricted DNA repair mechanism[46]
p14p53 dependent modulation[55]
p21p53 dependent modulation[55]
MSH2 Repair of mismatched DNA[56]

Biomarkers of benzene exposure in blood
Urinary sPMAIncreases in urine of exposed individuals[27]
Hemoglobin adducts4-month duration in blood[25]
Albumin adductsDuration in blood unclear[26, 28]