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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%