Circulating Tumor DNA Using Tagged Targeted Deep Sequencing to Assess Minimal Residual Disease in Breast Cancer Patients Undergoing Neoadjuvant Chemotherapy

Table 2

Selected mutations at diagnosis by Comprehensive Cancer Panel™ on FFPE biopsies.

UPN	Genotype	Frequency (%)	Gene	Coding	AA change
1	CAAAT/CAAAC	18.1	TP53	c.614A>G	Tyr205Cys
2	A/G	8.82	PIK3CA	c.1625A>G	Glu542Gly
3			None detected
4	C/T	21.12	TP53	c.158G>A	Trp53Thr
5			None detected
6	A/G	29.7	PIK3CA	c.3140A>G	His1047Arg
7			None detected
8	G/A	6.4	PIK3CA	c.1624G>A	Glu542Lys
9			None detected
10	C/CA	27.53	GATA3	c.1223_1224insA	Pro409fs

Mutation profile by high-depth targeted MPS in FFPE biopsy of 10 patients: Comprehensive Cancer Panel™ identified somatic genetic alterations in three different genes TP53, PIK3CA, and GATA3 in six patients. According to the stringent selection criteria we established for personalized mutational marker selection, no somatic alterations were found in four patients.