Table 4.
Biomarker mutations found in GBC samples. The number of samples with the mutation, associated drug, supporting level of evidence, and tumor where the evidence was generated are indicated.
| # of Samples | Gene | Mutation | Drugs | Evidence | Tumor Tested |
|---|---|---|---|---|---|
| 1 | BRCA1 | V370I | Rucaparib (PARP inhibitor) Olaparib (PARP inhibitor) WEE1 inhibitor Platinum agent (chemotherapy) Veliparib; Cisplatin (PARP inhibitor; chemotherapy) |
FDA guidelines Case report Early trials |
OV BRCA BRCA OV OV |
| 2 | ERBB2 | L755S | Dacomitinib (Pan ERBB inhibitor) Neratinib (ERBB2 inhibitor) Temsirolimus (MTOR inhibitor) |
Early trials | NSCLC CANCER, LUAD |
| 4 | KRAS | G12A G12V Q61H G12D |
Panitumumab (EGFR mAb inhibitor) Cetuximab (EGFR mAb inhibitor) Trastuzumab; Lapatinib (ERBB2 mAb inhibitor; ERBB2 inhibitor) Gemcitabine; MEK inhibitor (chemotherapy; MEK inhibitor) MEK inhibitor Selumetinib (MEK inhibitor) PI3K pathway inhibitor; MEK inhibitor Abemaciclib (CDK4/6 inhibitor) Imatinib (BCR-ABL inhibitor and KIT inhibitor) |
FDA guidelines FDA guidelines Late trials Early trials Early trials Early trials Early trials Early trials Case report |
COREAD LUAD PA NSCLC, HC, BT, L L PA L L GIST |
| 1 | PIK3CA | E545K | PI3K pathway inhibitor Everolimus; Trastuzumab; chemotherapy (MTOR inhibitor; ERBB2 mAb inhibitor; chemotherapy) Cetuximab (EGFR mAb inhibitor) AKT inhibitor PI3K pathway inhibitor PI3K pathway inhibitor |
FDA guidelines Late trials Late trials Early trials Early trials Case report |
BRCA BRCA COREAD BRCA ED, OV, CESC BLCA, HNSC, L |
| 1 | PTCH1 | P725S | Vismodegib (SHH inhibitor) | FDA guidelines | BCC, MB |
| 11 | TP53 | E171 * G244S G266V K321Ifs * 10 L257P R280T V173Gfs * 10 R213 * R248W R273C W53 * R273H R248Q Q192 * C238F |
MDM2 inhibitor Abemaciclib (CDK4/6 inhibitor) Cisplatin (chemotherapy) WEE1 inhibitor |
Early trials Early trials Early trials Early trials |
LIP BRCA FGCT, MGCT OV |
| 1 | TSC1 | L826Q | Everolimus (MTOR inhibitor) | FDA guidelines Early trials Case report |
GCA, RA BLCA ST, S, R |
| 2 | TSC2 | D1084G S1096C |
Everolimus (MTOR inhibitor) | FDA guidelines | GCA, RA |
| 1 | ARID1A # | Splice acceptor variant | (EZH2 inhibitor) (PD1 inhibitor) (PARP inhibitor) (ATR inhibitor) |
Pre-clinical Pre-clinical Pre-clinical Pre-clinical |
OV OV CANCER CANCER |
# For ARID1A, pre-clinical evidence is shown, *: It is a mutation nomenclature.