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. 2022 Feb 11;16(10):2098–2114. doi: 10.1002/1878-0261.13157

Table 3.

Frequencies of high‐impact mutations identified in GBM patients and in published cohorts. Column #1 lists the top 50 genes found to be mutated in GBM. Columns #2, #3, and #4 present data on glioblastoma from three major studies [44, 45, 46]. The percentage indicates the frequency of the mutations.

Gene name cBioPortal (585 patients) Piccioni D.E.(419 patients) TCGA/Pancancer (180 patients) Our results for 25 GBM samples
Tumour cfDNA
TP53 31.50% 58.70% 28.0% 30.0% 32.0%
IDH1 6.30% 2.00% 10.0% 8.0% 8.0%
PTEN 33.50% 0.80% 22.0% 33.0% 30.0%
EGFR 23.70% 20.00% 14.0% 20.0% 19.0%
H3F3A 0.80% 13.0% 2.0% 1.0%
PIK3CA 9.60% 5.00% 7.0% 9.0% 7.8%
ATRX 9.30% 9.0% 9.0% 10.0%
NF1 11.60% 22.90% 9.0% 11.0% 13.0%
BRAF 2.00% 7.00% 5.0% 3.0% 2.8%
RB1 9.60% 0.90% 7.0% 10.0% 9.7%
TERT 1.30% 2.80% 4.0% 4.5% 5.0%
PIK3R1 9.80% 6.0% 7.8% 7.0%
CHEK2 0.70% 8.0% 3.0% 2.1%
PDGFRA 4.00% 12.90% 5.0% 5.0% 5.1%
LRP1B 3.30% 5.0% 4.0% 4.3%
SETD2 2.80% 3.0% 3.5% 3.1%
STAG2 4.50% 3.0% 5.0% 5.2%
HIF1A 0.50% 3.0% 2.2% 3.1%
IRS4 1.00% 4.0% 4.0% 3.6%
KMT2C 4.80% 3.0% 3.0% 3.4%
MET 1.80% 19.00% 2.0% 2.0% 3.1%
APC 2.00% 14.00% 1.9% 2.5% 3.0%
AR 10.10% 1.1% 1.5% 2.3%
ERBB2 1.30% 10.10% 0.6% 1.3% 1.5%
FGFR2 1.00% 10.10% 0.5% 1.2% 1.3%
NOTCH1 0.50% 8.90% 1.5% 1.5% 2.0%
KIT 1.50% 8.00% 1.3% 1.5% 1.7%
NRAS 1.00% 7.00% 1.1% 1.5% 1.2%
RAF1 0.80% 7.00% 0.4% 1.2% 0.8%
CONE1 6.10%
JAK2 1.30% 6.10% 1.1% 2.1% 1.9%
ATM 1.80% 5.00% 2.1% 3.1% 2.8%
ALK 0.80% 4.00% 1.3% 1.3% 3.05%
BRCA1 1.50% 3.90% 2.0% 3.7% 3.5%
BRCA2 1.50% 3.90% 1.7% 3.8% 3.7%
MAP2K2 0.50% 2.80% 0.1% 1.5% 1.65%
CCND2 0.50% 2.00% 0.8% 0.8% 0.9%
CDK6 0.30% 2.00% 0.7% 0.7% 0.3%
GATA3 0.50% 1.90% 0.5% 0.9% 0.76%
GNAS 0.80% 1.90% 0.6% 1.2% 1.3%
HRAS 1.90% 0.5% 0.7% 1.1%
JAK3 1.30% 1.90% 1.0% 2.1% 1.9%
KRAS 0.50% 2.00% 0.8% 0.9% 0.8%
SMAD4 0.30% 1.90% 0.9% 1.0% 0.96%
SMO 0.50% 1.90% 0.7% 1.4% 1.43%
STK11 1.90% 0.8% 1.2% 1.3%
TSC1 1.00% 1.90% 1.5% 1.9% 1.8%
AKT1 0.50% 0.90% 0.2% 0.9% 1.2%
ARAF 0.80% 0.90% 0.2% 0.8% 1.2%
CCND1 1.10% 0.5% 1.1% 0.8%
FBXW7 0.80% 0.90% 1.1% 1.1% 0.8%
FGFR1 1.00% 1.10% 1.1% 1.0% 1.1%
MAPK3 0.80% 0.90% 0.2% 0.8% 0.78%
MLH1 0.30% 0.90% 0.9% 0.9% 1.2%
NTRK1 0.80% 0.90% 0.6% 0.8% 1.1%
NTRK3 1.30% 0.90% 1.3% 1.3% 0.9%
RIT1 0.30% 0.90% 0.2% 0.53% 0.5%
ROS1 2.50% 0.90% 2.2% 2.5% 2.1%