Table 5.

Tumor mutation characteristics based on germline mutation status

191 patients with informative germline and tumor genotypes
	Germline negative	Germline positive	chr sq p (Pearson’s)
Mutations per gene$			<0.001
TP53	103	31
PIK3CA	20	0
CDH1	13	1
MAP3K1	4	1
AKT1	2	0
EGFR	2	0
GATA3	2	1
NCOR1	2	0
PTEN	2	2
BRCA1	1*	2**,^
CCND1	1	1
ESR1	1	0
MAP2K4	1	2
MET	1	0
NOTCH4	1	0
PALB2	1#	0
VEGFA	1	1
ARID1B	0	5
TBX3	0	3
PIK3CA mut status$$			0.007
PIK3CA wt	125 (86.80%)	47 (100%)
PIK3CA mut	19 (13.19%)	0 (0%)
TP53 mut status$$			0.337
TP53 wt	56 (38.89%)	22 (46.81%)
TP53 mut	88 (61.11%)	25 (53.19%)
TP53 clonal mut$$			0.364
TP53 wt	39 (27.08%)	16 (23.88%)
TP53 non clonal	31 (21.53%)	6 (12.77%)
TP53 clonal	74 (51.39%)	25 (53.19%)
31 patients tested for germline/tumor mutation status
	Discordant, N=12	Concordant, N=19
Mutations per gene			0.034
TP53	9	7
BRCA1	1	1
CCND1	0	1
GATA3	0	1
MAP2K4	0	1
MAP3K1	0	1
PTEN	0	1
TP53 mut status			0.038
TP53 wt	3 (25%)	12 (63.16%)
TP53 mut	9 (75%)	7 (36.84)
TP53 clonal mut			0.036
TP53 wt	3 (25%)	12 (63.16%)
TP53 non clonal	0 (0%)	1 (5.26%)
TP53 clonal	9 (75%)	6 (31.58%)

^$Number of mutations among genes is compared;

^$$Number of tumors is compared;

^*BRCA1 p.E33K present in the tumor only at variant allele frequency (VAF) of 14%;

^**BRCA1 p.Q1811ter in the tumor at VAF 94% instead of the p.Q1756fsX74 in the germline;

^{^}BRCA1 p.A1823T germline mutation preserved in the tumor at VAF 92%;

^#PALB2 p.E860K present in the tumor only at very low VAF (6%);

Wt: Wild-type; Non clonal indicates TP53 mutation with VAF <25%.