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. Author manuscript; available in PMC: 2025 Apr 1.
Published in final edited form as: JCO Precis Oncol. 2024 Apr;8:e2300567. doi: 10.1200/PO.23.00567

Table 2.

Actionable findings on serial NGS testing

BRCA1/2 Non-BRCA HRR MSI-hi/MMRd TMB-high Total
Patients n = 144
1st NGS test BRCA2 = 6 (4.2%)
BRCA2 and CDK12 = 1 (0.7%)
BRCA1 = 2 (1.4%)
BRCA1 and ATM = 1 (0.7%)
Total = 10 (6.9%) 		CDK12 = 6 (4.2%)
ATM = 4 (2.8%)
CHEK2 = 1 (0.7%)
RAD51D = 1 (0.7%)
FANCA = 1 (0.7%)
Total = 13 (9.0%) 		MSI-hi = 3 (2.1%)
MMRd = 4 (2.8%)
Total = 7 (4.9%) 		2 (1.4%) 32 (22.2%)
2nd NGS test BRCA2 = 2 (1.4%)
BRCA2 and ATM = 1 (0.7%)
Total = 3 (2.1%) 		ATM = 4 (2.8%)
CDK12 = 1 (0.7%)
ATM and CDK12 = 1 (0.7%)
PALB2 = 1 (0.7%)
FANCA = 1 (0.7%)
Total = 8 (5.6%) 		MSI-hi = 2 (1.4%) 3 (2.1%) 16 (11.1%)
n = 55
3rd NGS test ATM = 1 (1.8%)
CHEK2 = 2 (3.6%)
PPP2R2A = 1 (1.8%)
Total= 4 (7.3%) 		MSI-hi = 1 (1.8%)
MMRd = 1 (1.8%)
Total = 2 (3.6%) 		1 (1.8%) 7 (12.7%)
n = 75
4th NGS test and beyond ATM = 2 (2.7%)
FANCA = 1 (1.3%)
CHEK2 = 1 (1.3%)
Total = 4 (5.3%) 		5 (6.7%) 9 (12%)
n = 10 n = 13 n = 7 n = 2 n = 32
Received a targeted therapy* after the 1st NGS test BRCA2 = 4 (40%)
BRCA1 = 1 (10%)
Total = 5 (50%) 		CDK12 = 3 (23.1%) (PARPi = 1/ IO = 1 / PARPi & IO = 1)
ATM (IO) = 1 (7.7%)
RAD51D (PARPi & IO) = 1 (7.7%)
Total = 5 (38.5%) 		MSI-high = 3 (42.3%) 13 (40.6%)
n = 3 n = 8 n = 2 n = 3 n = 16
Received a targeted therapy after the 2nd NGS test BRCA2 = 2 (67%) PALB2 = 1 (12.5%)
CDK12 (IO) = 1 (12.5%)		 MSI-high = 1 (50%) 5 (31.3%)
*

targeted therapy = PARP inhibitor (PARPi) or immunotherapy (IO)