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Table 2 Genes identified through mutational analysis in AML in the total, M2, and M3 subtype patient groups

From: Identification of somatic mutations using whole-exome sequencing in Korean patients with acute myeloid leukemia

Gene Chr Type of variant (patients, n) p a q a Previous studiesb
AML (p < 0.01 and q < 0.10)
 NEFH 22 In Frame Ins(6)/Del(4) 6.27 × 10-13c 1.18 × 10−8 RCC [23], ESCC [24]
 TMPRSS13 11 In Frame Del(6), Missense(5) 1.40 × 10-10c 1.32 × 10−6  
 KRTAP4-5 17 In Frame Ins(5), Missense(1) 5.07 × 10-8c 3.19 × 10−4  
 OR2T35 1 Frame Shift Ins(1)/Del(4) 1.50 × 10-7c 7.09 × 10−4  
 HAVCR1 5 Intron SNV(1), In Frame Del(5), Silent(1) 3.62 × 10-7c 1.37 × 10−3 Colorectal [25], RCC [26]
 IFI27 14 In Frame Ins(3) 6.88 × 10-6c 0.02 Ovarian [27], Breast [28]
 PCSK5 9 Intron SNV(1), Frame Shift Del(6), 3′UTR Ins(7)/Del(1) 8.50 × 10-6c 0.02 Lung [29]
 GPRIN1 5 Missense(1), In Frame Del(5) 8.88 × 10-6c 0.02  
 MRPL18 6 In Frame Del(3) 2.09 × 10−5 0.04  
 ARSD X Intron Ins(2)/Del(2), In Frame Del(4) 2.93 × 10−5 0.05 CLL [30]
 MAML3 4 In Frame Ins(2)/Del(4), Silent(3), Intron Del(1) 3.33 × 10−5 0.05  
AML-M2 (p < 0.01)
 CEBPA 19 In Frame Ins(3) 5.22 × 10−5 0.49 HCC [31], AML [32]
 EP400 12 Intron Del(1), In Frame Ins(4)/Del(1) 3.45 × 10−4 1 RCC [33], Colorectal [34]
AML-M3 (p < 0.01)
 ATXN3 14 In Frame Ins(2), Intron Ins(1) 9.75 × 10−4 1 Lung [35]
  1. Abbreviation: AML acute myeloid leukemia, B-CLL B-cell chronic lymphocytic leukemia, Breast breast cancer, Colorectal colorectal cancer, CLL chronic lymphocytic leukemia, Chr chromosome, Del deletion, ESCC esophageal squamous cell carcinoma, HCC hepatocellular carcinoma, Ins insertion, Lung lung cancer, MDS myelodysplastic syndrome, NMSC non-melanoma skin cancer, Ovarian ovarian cancer, RCC renal cell carcinoma, SNV single nucleotide variant
  2. a p and q values were obtained from mutational analysis
  3. bCancers reported by previous studies to have associations with the gene mutations
  4. cThe genes still being significant after Bonferroni correction