Concordance of Genomic Alterations between Circulating Tumor DNA and Matched Tumor Tissue in Chinese Patients with Breast Cancer

Table 2

Sensitivity, specificity, and diagnostic accuracy across 6 genes.

ctDNA mutations	Tissue mutations		Sensitivity	Specificity	PPV	NPV	Diagnostic	Youden’s
	(+)	(−)	(%)	(%)	(%)	(%)	Accuracy (%)	J Index
TP53
(+)	10	7
(−)	9	20	52.6	74.1	58.8	70.0	65.2	0.27
PIK3CA
(+)	4	2
(−)	10	27	28.6	93.1	66.7	73.0	72.1	0.22
CHEK2
(+)	2	4
(−)	1	35	66.7	89.7	33.3	97.2	88.1	0.56
HNF1A
(+)	4	9
(−)	2	29	66.7	76.3	30.8	93.5	75.0	0.43
ABL1
(+)	4	2
(−)	3	35	57.1	94.6	66.7	92.1	60.9	0.52
Total positive	24	24
Total negative	25	146
Total(positive + negative)	49	170	49.0	85.9	50.0	85.4	77.6	0.35