Detection of activating mutations in liquid biopsy of Egyptian breast cancer patients using targeted next-generation sequencing: a pilot study

Journal of the Egyptian National Cancer Institute

Table 2 Variant allele frequency (VAF) for each identified variant in each patient

Variant	No. of patients	P1	P2	P3	P4	P5	P6	P7	P8
Variant	No. of patients	Metastatic	Metastatic	Metastatic	Metastatic	Metastatic	Early disease, non metastatic	Early disease, non metastatic	Metastatic
FLT3 Substitution—intronic	7	0.508	0.995	1	0.459		0.473	0.477	1
SMARCB1 Substitution—intronic	1	0.449
FGFR3 p.(Thr653=) Substitution–coding silent	8	0.995	1	1	1	0.991	0.996	0.998	0.478
APC p.(Thr1493=) Substitution–coding silent	7	0.515	0.496	0.998	0.998	1	0.509		0.998
RET p.(Ser904=) Substitution–coding silent	2	0.473							0.489
RET p.(Leu769=) Substitution–coding silent	8	0.524	0.527	0.999	0.514	1	0.994	0.998	0.515
IDH1 p.(Gly105=) Substitution–coding silent	1	0.497
HRAS p.(His27=) Substitution–coding silent	4			0.504		0.522	0.513	0.488
EGFR p.(Gln787=) Substitution–coding silent	6	0.996	0.477	0.507	0.494		1		0.477
MET p.(Ile377=) Substitution–coding silent	1		0.484
PDGFRA p.(Val824=) Substitution–coding silent	3			0.47	0.495				0.491
PDGFRA p.(Pro577=) Substitution–coding silent	1	0.522
PDGFRA p.(Pro567=) Substitution–coding silent	8	0.997	0.469	0.999	0.998	1	1	0.998	0.998
STK11 p.(Tyr272=) Substitution–coding silent	1				0.522
TP53 p.(Pro72Arg) Substitution—Missense	6	0.998	0.993	0.488			0.521	0.522	0.493
PIK3CA p.(Ile391Met) Substitution—Missense	2		0.505	0.555
KDR p.(Gln472His) Substitution—Missense	2		0.573	0.138
ATM p.(Phe858Leu) Substitution—Missense	1	0.465
APC p.(Ile1307Lys) Substitution—Missense	1				0.518
APC p.(Glu1317Gln) Substitution—Missense	1					0.504
FGFR3 p.(Ala719Thr) Substitution—Missense	1			0.481