Clinical significance of plasma cell-free DNA mutations in PIK3CA, AKT1, and ESR1 gene according to treatment lines in ER-positive breast cancer

Table 1 Details of the change of PIK3CA mutations, AKT1 mutation, and ESR1 mutations

	No. of patients (%)
	Changes of the mutations due to neo-adjuvant therapies (N = 65)								Changes of the mutations on relapse (N = 13)
PIK3CA	E542x/ G1049x →H1047x	WT→ E542x /E545x, Q546x	WT→ H1047x	H1047x/ G1049x →WT	H1047x →WT	N/A→ H1047x	N/A →WT	WT →WT	H1047x→ H1047x	WT→ E542x/ E545x, Q546x /H1047x	WT→ E545x, Q546x	WT→ H1047x	WT→ G1049x	H1047x→WT	WT →WT
PIK3CA	1 (1.5)	2 (3.1)	6 (9.2)	1 (1.5)	7 (10.8)	1 (1.5)	4 (6.1)	43 (66.1)	1 (7.7)	1 (7.7)	1 (7.7)	2 (15.4)	1 (7.7)	1 (7.7)	6 (46.1)
AKT1	E17K→ WT	N/A→ WT	WT→ WT						WT→WT
AKT1	1 (1.5)	5 (7.7)	59 (90.8)						13 (100)
ESR1	N/A→ Y537S /Y537N /D538G	N/A→ WT	WT→ WT						Y537S/ Y537N /D538G→ Y537S /Y537N /D538G	WT→Y537S	WT→ D538G	WT→ WT
ESR1	1 (1.5)	4 (6.1)	60 (92.3)						1 (7.7)	1 (7.7)	2 (15.4)	9 (69.2)

Abbreviations: WT wild-type, N/A not available, E542x E542K/V, E545x Q546x E545V/G/A/Q/K Q546L/R/P/E/K, H1047x H1047L/R/Y, G1049x, G1049R/S

ISSN: 1476-4598