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. 2019 May 31;42(2):549–560. doi: 10.3892/or.2019.7177

Table II.

Mutations of bile cell-free DNA from ten biliary tract cancer patients.

Patient ID SNV/Indel CNV
Patient #1 TP53 p.Q38Pfs*5 0.498a CDK12 Gain
ERBB2 p.D769Y 0.004 ERBB2 Gain
PIK3CA c.1665-1G>T 0.004 CCNE1 Gain
CDKN2A Loss
ZNF217 Gain
Patient #2 TP53 p.C275F 0.037 FGFR2 Gain
TP53 p.P27Lfs*17 0.012
ARID2 p.Q794Cfs*45 0.014
KRAS p.A146V 0.006
TP53 p.E180K 0.022
SETD2 p.M118I 0.015
Patient #3 TP53 p.P151T 0.022 FLT1 Gain
NOTCH2 p.T235S 0.011
Patient #4 TP53 p.V157F 0.062 CCNE1 Gain
FLT4 p.A622T 0.010 CDKN2A Loss
NOTCH1 p.R1824Q 0.492
KMT2A p.G3131S 0.467
NOTCH2 p.R29Q 0.028
Patient #5 TP53 c.783-2_821del 0.050
CDKN2A p.V82E 0.169
KRAS p.I36M 0.246
IRS2 p.Q1206R 0.592
EP300 p.P881S 0.423
FAT1 p.D850E 0.129
Patient #6 TP53 p.M237I 0.760 CDK6 Gain
PDGFRA p.L216I 0.516 MET Gain
NF1 p.E649* 0.710 BRAF Gain
RNF43 p.L706Cfs*20 0.471 PIK3CA Gain
FGFR3 p.K413R 0.320 ALK Gain
FGFR1 p.G35R 0.109
SPTA1 p.N2076K 0.107
PIK3R1 p.N564D 0.034
AR p.K778M 0.014
Patient #7 KRAS p.G12D 0.016
ATM p.A2626V 0.012
NOTCH1 p.R592H 0.486
KMT2A p.P658P 0.483
VEGFA p.T8Rfs*78 0.385
Patient #8 TP53 p.R248W 0.533 FGFR3 Gain
TSC1 p.R190H 0.130 VEGFA Gain
ATR p.M211I 0.441 MYC Gain
BRCA1 p.R762S 0.197 ERBB3 Gain
CDKN1B Gain
APC Gain
ROS1 Gain
Patient #9 MRE11A Gain
MTOR Loss
CDKN2A Loss
STK11 Loss
ERBB2 Gain
CCNE1 Gain
CDK6 Gain
Patient #10 CDKN1B Gain
CCNE1 Gain
ZNF217 Gain
a

Mutation allele frequency in bile cell-free DNA sample. SNV/Indel, single nucleotide variation/insertion and deletion; CNV, copy number variation.