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. 2020 Feb 10;61(2):127–135. doi: 10.4111/icu.2020.61.2.127

Table 2. Comparison of the incidence of top-ranked genetic alteration of this study with the TCGA database. Muse, mutect, somaticsniper, and varscan were used to determine true mutations.

SNUH pan-caner panel (n=20) Gene TCGA (n=496)
Truncating Inframe Missense Sum Truncating Inframe Missense Sum
0 (0.0) 0 (0.0) 5 (25.0) 5 (25.0) SPOP 1 (0.2) 0 (0.0) 50 (10.1) 51 (10.3)
1 (5.0) 0 (0.0) 3 (15.0) 4 (20.0) KMT2D 16 (3.2) 1 (0.2) 12 (2.4) 29 (5.8)
0 (0.0) 0 (0.0) 3 (15.0) 3 (15.0) MAP3K1 1 (0.2) 0 (0.0) 2 (0.4) 3 (0.6)
0 (0.0) 0 (0.0) 3 (15.0) 3 (15.0) TSHR 0 (0.0) 0 (0.0) 1 (0.2) 1 (0.2)
0 (0.0) 1 (5.0) 2 (10.0) 3 (15.0) FANCD2 1 (0.2) 0 (0.0) 1 (0.2) 2 (0.4)
0 (0.0) 0 (0.0) 3 (15.0) 3 (15.0) ATM 3 (0.6) 1 (0.2) 13 (2.6) 17 (3.4)
0 (0.0) 0 (0.0) 3 (15.0) 3 (15.0) FANCA 0 (0.0) 0 (0.0) 0 (0.0) 0 (0.0)
0 (0.0) 1 (5.0) 2 (10.0) 3 (15.0) BRAF 0 (0.0) 1 (0.2) 5 (1.0) 6 (1.2)
0 (0.0) 0 (0.0) 3 (15.0) 3 (15.0) FANCG 0 (0.0) 0 (0.0) 1 (0.2) 1 (0.2)
0 (0.0) 0 (0.0) 2 (10.0) 2 (10.0) NOTCH4 0 (0.0) 0 (0.0) 2 (0.4) 2 (0.4)
0 (0.0) 0 (0.0) 0 (0.0) 0 (0.0) ERG 0 (0.0) 0 (0.0) 0 (0.0) 0 (0.0)
0 (0.0) 0 (0.0) 0 (0.0) 0 (0.0) NRG1 1 (0.2) 0 (0.0) 3 (0.6) 4 (0.8)
0 (0.0) 0 (0.0) 0 (0.0) 0 (0.0) AR 0 (0.0) 0 (0.0) 2 (0.4) 2 (0.4)

Values are presented as number (%).

SNUH, Seoul National University Hospital; TCGA, The Cancer Genome Atlas.