Commonly used tests to detect genetic alterations in cancer patients
| Disease | Target | Drug | Method of detection |
|---|---|---|---|
| NSCLC | EGFR mutation | EGFR TKIs, e.g., erlotinib, gefitinib, afatinib, osimertinib | PCR, NGS |
| ALK fusion | ALK TKIs, e.g., ceritinib, alectinib, brigatinib, loratinib | IHC (D5F3), FISH, PCR, NGS | |
| ROS-1 fusion | Crizotinib, entrectinib | IHC, PCR, NGS | |
| HER-2 mutation | Trastuzumab deruxtecan | PCR, NGS | |
| MET exon 14 skipping mutation | Capmatinib | PCR, NGS | |
| Breast cancer | HER-2 amplification | Trastuzumab, pertuzumab, T-DM1, lapatinib | DISH |
| PIK3CA mutation | Alpelisib | PCR, NGS | |
| GIST | KIT mutation | Imatinib | PCR, NGS |
| Used in many cancer types | BRAF mutation | Dabrafenib, trametinib | PCR, NGS |
| BRCA mutation | Olaparib | PCR, NGS | |
| KRAS mutation | Sotorasib | PCR, NGS | |
| RET fusion | Pralsetinib | PCR, NGS | |
| NTRK fusion | Entrectinib | PCR, NGS | |
| MMR defect or MSI-H | Pembrolizumab | IHC (MMR proteins), NGS | |
| Comprehensive genomic profiling | Various molecularly-targeted therapy and immunotherapy | NGS |
NSCLC, non-small cell lung cancer; GIST, gastrointestinal stromal tumor; TKI, tyrosine kinase inhibitor; PCR, polymerase chain reaction; NGS, next-generation sequencing; IHC, immunohistochemistry; FISH, fluorescent in situ hybridization; DISH, dual in situ hybridization; MMR, mismatch repair; MSI, microsatellite instability.