Research Article

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

Table 5

Mutational analysis by tTDS on ctDNA.

Oncomine Breast liquid Biopsy v2.0 Analysis Ion Reporter: Workflow Oncomine TagSeq Breast v2 Liquid Biopsy w2.1—Single Sample
AFFPE biopsy (% MAF)Prerelapse (% MAF)Relapse (% MAF)

Relapsed patientsUPN1TP 53 p.R273H(0,3); ESR1 P.V392I (0,4); TP53 p.V157I (0,3); TP53 p.P82L(0,4)T4_nondetected SNVT5_nondetected SNV
UPN6PIK3CA p.H1047R (23,2); Tp53 p. R282W (1,1)T5_ PIK3CA H1047R (0,1); PIK3CA E726K (0,2); Tp53 p. R282W (0,1)T6_PIK3CA H1047R (0,2)
UPN 10TP53 c.919 + 1G>C p.? chr17:7577018 (50)N,PT5_ CCND1 loss; T7_TP53 c.919 + 1G>C p.? chr17:7577018 (0,2)N,PT8_not available
UPN 8PIK3CA p.E542K (1,5)T4_KRAS G12D (0,1)T5_G12V(0,4); T6 _G12V (0,2)

BFFPE biopsy (% MAF)Follow-up 24 months (T7) (% MAF)

Nonrelapsed patientsUPN2PIK3CA p.Glu542Gly (8,4)Nondetected SNV
UPN 4ERBB3 p. V104M(0,5); TP53 R248W (0,3)TP53 p.R248W (3,9); PIK3CA H1047R (0,6)
UPN 3Nondetected SNVNondetected SNV
UPN 7TP53 chr17:7574034 p? (48,6)N,P; TP53 p.R273H(0,3)_CCND1 gainTP53 p.R273H (1,1); PIK3CA H1047R (0,3); KRAS p.G12A (0,4)
UPN 5Nondetected SNV_ERBB2 gainNondetected SNV
UPN9FBXW7 p.S582L(0,6)Nondetected SNV

Mutational analysis on ctDNA and FFPE biopsy by tTDS. A: relapsed patients and B: nonrelapsed patients.