Table 1.

Germline variant strength of association with overall CH and various subtypes

0–0.250.26–0.50.6–0.750.76–1.01.1–1.251.26–1.5
Overall CHa ATM MSI2 TERTd  CHEK2   
BCL2L1 ODF3B   TET2e   
CD164 PARP1      
CNTROB PURB      
DLK1 RUNX1      
DNAH2 SENP7      
ENPP6 SETBP1      
GATA2 SMC4      
GSDMC STN1      
HLA-C TERTb      
IL12A TET2c      
ITPR2 TP53      
KPNA4 TSC22D2      
LY75 TYMP      
LY75-CD302 ZNF318      
DNMT3A-CH ABCC5 MYB FLT3  CHEK2f  CHEK2g 
ATM OBFC TERT     
BCL2L1 PARP1      
CD164 PURB      
CNTROB RABIF      
DNAH2 SENP7      
GSDMC SETBP1      
IL12A SMC4      
ITPR2 TCL1A      
KPNA4 TET2      
LY75 TP53      
LY75-CD302 TSC22D2      
MSI2 ZNF318      
TET2-CH ATM  TCL1A TP53    
GATA2  TERT     
THRB  THEM209     
ASXL-CH CD164  TCL1A     
TP53-CH       SEPT3 
JAK2-CH     JAK2   
0–0.250.26–0.50.6–0.750.76–1.01.1–1.251.26–1.5
Overall CHa ATM MSI2 TERTd  CHEK2   
BCL2L1 ODF3B   TET2e   
CD164 PARP1      
CNTROB PURB      
DLK1 RUNX1      
DNAH2 SENP7      
ENPP6 SETBP1      
GATA2 SMC4      
GSDMC STN1      
HLA-C TERTb      
IL12A TET2c      
ITPR2 TP53      
KPNA4 TSC22D2      
LY75 TYMP      
LY75-CD302 ZNF318      
DNMT3A-CH ABCC5 MYB FLT3  CHEK2f  CHEK2g 
ATM OBFC TERT     
BCL2L1 PARP1      
CD164 PURB      
CNTROB RABIF      
DNAH2 SENP7      
GSDMC SETBP1      
IL12A SMC4      
ITPR2 TCL1A      
KPNA4 TET2      
LY75 TP53      
LY75-CD302 TSC22D2      
MSI2 ZNF318      
TET2-CH ATM  TCL1A TP53    
GATA2  TERT     
THRB  THEM209     
ASXL-CH CD164  TCL1A     
TP53-CH       SEPT3 
JAK2-CH     JAK2   

Table displays various the strength of association between multiple germline variant and overall CH as well as various subtypes. This table is adapted from Quiros and Vassiliou (2023).

a

Data adapted from Bick et al. (2020); Dawoud et al. (2020); Kar et al. (2022); Kessler et al. (2022); Quiros and Vassiliou (2023); Travaglini et al. (2024).

b

Data adapted from Kessler et al. (2022); Travaglini et al. (2024).

c

Data adapted from Kessler et al. (2022).

d

Data adapted from Bick et al. (2020); Dawoud et al. (2020).

e

Data adapted from Kar et al. (2022).

f

Data adapted from Kessler et al. (2022).

g

Data adapted from Travaglini et al. (2024).

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