Table 1.

Spectrum of mutations detected in blood donors

CohortFrequent donorControl donor
Characteristics n  =  105, median age, 66 y
Median # donations, 120 
n  =  103, median age, 63 y
Median # donations, 5 
Low-risk mutations13  DNMT3A (34)a
TET2 (14)
KRAS (2)
CBL (1)
ASXL1 (1) 
DNMT3A (23)a
TET2 (7)
CBL (1)
ASXL1 (1) 
High-risk mutations23  RUNX1 (1)
SRSF2 (1) 
RUNX1 (1)
U2AF1 (1) 
Unclear risk mutations34  KMT2C (5), MPL (3), SH2B3 (2), SF3B1 (2)b, BCR (2), EED (2), and 1 each of
SMC1A, TERT, WAS, HNRNPK, JAK3, ATM, ASXL2, STAT3, LRRC4, KAT6A, KDM6A, IKZF1, FAM154B, EP300, ELANE, DNMT1, CTCF, CRLF2, and BRINP3 
SMC1A (2), HNRNPK (2), FAM47A (2), DNM2 (2), BRCA2 (2), and 1 each of
KMT2C, SH2B3, SF3B1b,
BCR, WAS, TERT, JAK3, ATM, ASXL2, TAL1, SETBP1, NPAT, NOTCH1, IL7R,
GJB3, FIP1L1, DDX41, CUX1, CHEK2, BRCA1, ANKRD26, and ABL1 
CohortFrequent donorControl donor
Characteristics n  =  105, median age, 66 y
Median # donations, 120 
n  =  103, median age, 63 y
Median # donations, 5 
Low-risk mutations13  DNMT3A (34)a
TET2 (14)
KRAS (2)
CBL (1)
ASXL1 (1) 
DNMT3A (23)a
TET2 (7)
CBL (1)
ASXL1 (1) 
High-risk mutations23  RUNX1 (1)
SRSF2 (1) 
RUNX1 (1)
U2AF1 (1) 
Unclear risk mutations34  KMT2C (5), MPL (3), SH2B3 (2), SF3B1 (2)b, BCR (2), EED (2), and 1 each of
SMC1A, TERT, WAS, HNRNPK, JAK3, ATM, ASXL2, STAT3, LRRC4, KAT6A, KDM6A, IKZF1, FAM154B, EP300, ELANE, DNMT1, CTCF, CRLF2, and BRINP3 
SMC1A (2), HNRNPK (2), FAM47A (2), DNM2 (2), BRCA2 (2), and 1 each of
KMT2C, SH2B3, SF3B1b,
BCR, WAS, TERT, JAK3, ATM, ASXL2, TAL1, SETBP1, NPAT, NOTCH1, IL7R,
GJB3, FIP1L1, DDX41, CUX1, CHEK2, BRCA1, ANKRD26, and ABL1 
a

Including 3 ×  and 2 × R882 mutations in frequent and control donors, respectively.

b

Assigned as unclear risk mutation due to controversial predictions in the literature.

Data compiled from Karpova et al.32 

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