Table 3.

Germline and somatic gene alterations in 24 patients according to endocrine responsiveness.

No	Age	Germline pathogenic variant	Somatic gene alteration
			Actionable gene mutation	Copy-number variant
				Gain	Loss
Primary endocrine resistance
1	44		TP53 T253Nfs*11, PIK3CA V105_R108del
2	33		TP53 Y220C, BRCA1 L63*
3	70		TP53 A161D, TERT V299M	ESR1, MYC, CDK4, ECT2L, TNFAIP3
4	44	BRCA2 T630Nfs*6	DICER1 A518V
5	67		PIK3CA H1047L, TSC1 A84T	FAM46C, NRAS
6	45		TP53 E11Q, STK11 T189l, CEBPA S190P
7	66		TP53 E339*, PIK3CA H1047R, ESR1 D538G, MAP2K4 R75Tfs*7
Secondary endocrine resistance
8	65		AKT1 E17K, ESR1 D538G
9	72		TP53 Q192*, PIK3CA C420R, ESR1 G415_C417del, BRAF R389C, ATM S1863F	MYC, GNAS
10	68				CRLF2, SMO
11	33	PTEN R130*
12	70		RB1 R621S
13	50	BRCA1 Q1447Rfs*22	AKT1 E17K, CREBBP Q1259*, NF1 W561*		CDKN2A
14	64		ESR1 G442R
15	38	BRCA2 D252Vfs*24	ERBB2 G727A	MYC, TERT	BRCA2, ARID1A, RB1
Endocrine-responsive breast cancer
16	70		PIK3CA H1047R, CSF1R A245T, ARID1A Q1334del, FANCA P1411L, SF3B1 K700E
17	57		PIK3R1 R534Q, AKT1 E17K, PTEN L325F
18	46		PIK3CA E453K, KIT V540L
19	72		PIK3CA H1047R
20	66		AKT1 E17K, ROS1 D2213E, FLT3 S454L, DICER1 S678F, MAP3K1 N1305D, MAP3K1 N749Ifs*12
21	68		ESR1 E380Q, HIST1H3B D82Y	PRKAR1A, BRIP1, CD79B
22	59		AKT1 E17K
23	73		TP53 E11Q, ASXL1 E1033V	HIST1H3B, PRKAR1A, DAXX
24	66		AKT1 E17K, DDR2 T283I	KLF6

Age age at the time of clinical sequencing (years).