Table 3.

Sequencing results of ptDNA

Patient IDTime pointGeneAlteration (AA)ptDNA-allelic frequency (%)
10mTP53R342*20.1
1fu1TP53R342*48.0
20mTP53Y163C31.66
2fu1TP53Y163C7.32
2fu2TP53Y163C41.95
30mTP53M66fs*5733.93
3fu1TP53M66fs*570.15
3fu2TP53M66fs*577.50
40mTP53L206*1.64
40mBRCA1E1849*1.21
50mTP53R209fs*60.63
50mPTENY188fs*20.08
50mPTENT319fs*60.10
60mTP53R175H16.96
60mAKT1E17K8.27
70mTP53R248Q1.27
80mTP53Y234C47.05
90mTP53P219fs*20.076
90mPIK3CAV344G20.12
100mTP53E294fs*510.29
10fu1TP53E294fs*510.39
10fu2TP53E294fs*510.20
100mTP53R249W3.24
10fu1TP53R249W0.71
10fu2TP53R249W1.08
110mTP53R110P2.02
120mTP53I195T59.28
130mTP53R273L2.44
13fu1TP53R273L1.86
130mTP53Y163C0.6
13fu1TP53Y163C10.22
140mTP53R213fs*340.21
150mTP53R248Q27.98
150mTP53splice site 376-1G>A0.65
160mTP53Y234del34.06
170mTP53A276G10.51
17fuTP53A276G24.48
17fuBRCA2S2001C0.79
180mTP53R213*15.38
190mJAK2V617F1.31
200mTP53E221fs*40.1077
210mTP53T253N25.17
210mTP53N247K25.15
210mTP53R175H0.73
220mTP53P151R1.65
220mBRCA1E23fs*1730.00
240mNF1Q83*2.97
24fuNF1Q83*23.97
240mCDH1S111fs*618.95
24fuCDH1S111fs*627.21
240mPIK3CAH1047R18.12
24fuPIK3CAH1047R25.58
260mPTENC296fs*120.101
260mPIK3CAM1043I0.081
260mPIK3CAN1044K0.082
  • NOTE: Allelic frequency is the percentage of mutant DNA relative to total DNA as assessed by NGS.

  • *Stop codons.