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Table 2 Gene mutations detected in the lung, kidney and colon tumor samples

From: Targeted sequencing identifies the mutational signature of double primary and metastatic malignancies: a case report

  Lung Kidney Colon White blood cell
Tumor Mutation Burden (mutations/Mb) 15.1 14.3 7.9
Gene mutations detected Allele frequency  
FANCC c.339G > A (p.W113X) 36.45% 39.67% 46.57% detected
KMT2C c.962G > A (p.S321 N) 11.81% 14.62% 17.45%
TP53 c.614A > G (p.Y205C) 31.74% 24.91%
CDKN2A c.151-1G > T 24.40% 15.54%
LRP1B c.55A > G (p.R19G) 49.76% 46.88%
LRP1B c.4258G > C (p.D1420H) 17.64% 15.00%
SMARCA4 c.2946G > T (p.K982 N) 30.56% 26.12%
SMARCA4 c.3529G > T (p.D1177Y) 26.92% 27.18%
SLX4 c.4976C > T (p.P1659L) 22.82% 6.83%
PTPRD c.2350-9 T > A 22.21% 18.26%
PTPRD c.4944 T > A (p.F1648 L) 9.66%
MED12 c.3089C > T (p.A1030V) 13.64%
PREX2 c.1188C > G (p.I396M) 12.02%
FAT3 c.8425G > T (p.D2809Y) 7.25%
ERBB2 amplification CN = 3.38
STAT3 amplification CN = 3.66
RAC1 amplification CN = 3.07
ATM c.1562G > C (p.R521T) 8.04%
SDHA c.940G > A (p.E314K) 13.71%
ATR c.7del (p.Q3fs) 8.88%
RANBP2 c.5632 T > G (p.S1878A) 4.47%
TP53 c.818G > A (p.R273H) 16.77%
PTPRT c.230 T > C (p.V77A) 29.21%
TCF7L2 c.1408G > T (p.V470F) 15.71%
APC c.4216C > T (p.Q1406X) 14.99%
DICER1 c.2077G > A (p.V693I) 14.86%