Circulating tumor DNA genomic profiling reveals the complicated olaparib-resistance mechanism in prostate cancer salvage therapy: A case report

Table 1 Summary of 13 gene alterations in circulating tumor DNA detected from our patient upon olaparib resistance

Gene	Base change	Amino acid variation	Exon	Variant frequency	Transcript
PTEN	c.136_137del	p.Y46Qfs*5	EX2	59.47%	NM_000314.4
AR			Copy number gain
CHD1			Copy number loss
FGFR1			Copy number gain
TP53	c.665_672*11del	-	EX6-IVS6	36.13%	NM_000546.5
NOTCH2	c.5311-1G>A	-	IVS29	1.28%	NM_024408.3
PIK3C2G	c.2143A>G	p.R715G	EX15	40.23%	NM_004570.4
LHCGR	c.143C>T	p.T48M	EX1	23.39%	NM_000233.3
PALB2	c.751_752delCAinsTT	p.Q251L	EX4	7.31%	NM_024675.3
PALB2	c.751_753delCAGinsTAC	p.Q251Y	EX4	3.79%	NM_024675.3
PALB2	c.751C>T	p.Q251*	EX4	Germline	NM_024675.3
CDC25C	c.1150_1151delGGinsCC	p.G384P	EX12	2.35%	NM_001790.3
FLT4	c.376G>A	p.A126T	EX3	1.15%	NM_002020.4

Bold texts indicate the three PALB2 mutations detected in the patient.