Table 3.
Biomarker mutations supported by FDA (n = 44) and NCCN guidelines (n = 9), found in the analyzed clinical samples. The associated drug and the mutation’s predictive effect are indicated.
| Gene | Mutation | Drug | Effect |
|---|---|---|---|
| BRCA1 | E1609 *, L702Wfs * 5, N1745Tfs * 20, Q1273 *, V370I | Rucaparib (PARP inhibitor) Olaparib (PARP inhibitor) |
Responsive |
| BRCA2 | A2603S, D1796Mfs * 9, K3327Nfs * 13, L1114V, splice_acceptor_variant, T2783Afs * 13, T2790I, I1364M, L398P, D635G, R2034C | ||
| KRAS | A146V, Q61H G12A, G12D, G12V, L19F, Q25 * fs * 1 |
Panitumumab (EGFR mAb inhibitor) Cetuximab (EGFR mAb inhibitor) |
Resistant |
| NRAS | G12C, Q61R | Panitumumab (EGFR mAb inhibitor) Cetuximab (EGFR mAb inhibitor) |
Resistant |
| PIK3CA | H1047R, E545A, E545K, E542K, R88Q, N345S, E579K | Alpesilib + Fulvestrant | Responsive |
| PTCH1 | R441H, D717N, H1240R, P725S, V580A, T677A, N871D | Vismodegib (SHH inhibitor) | Responsive |
| TSC1 | K375Sfs * 30, L826Q, L827Q, T582S | Everolimus (MTOR inhibitor) | Responsive |
| TSC2 | R1729C, S1530L, K533delK, A460T, A950T, D1084G, P1771L, S1096C, T154I |
*: It is a mutation nomenclature.