Table 1.
Summary of oncology pharmacogenomic biomarkers in FDA drug labeling
| Disease | Biomarker | Therapy | Frequency |
|---|---|---|---|
| Breast | HER2 | Trastuzumab, lapatinib, pertuzumab, ado-trastuzumab emtansine | 20% |
| ESR1 | Exemestane, letrozole, anastrozole, fulvestrant, tamoxifen, | 60% | |
| Colorectal | KRAS | Cetuximab, panitumumab | 35%–40% |
| EGFR | Cetuximab, panitumumab | 35%–45% | |
| DPYD | 5-Fluorouracil, capecitabine | <5% | |
| UGT1A1 | Irinotecan | 30% | |
| Lung | ALK | Crizotinib, ceritinib | 5%–7% |
| EGFR | Erlotinib, gefitinib, afatinib, osimertinib | 15%–20% | |
| Melanoma | BRAF | Vemurafenib, dabrafenib, trametinib | 50%–60% |
| Acute promyelocytic leukemia | PML-RARα | Arsenic trioxide, tretinion | >95% |
| Chronic myeloid leukemia | BCR-ABL | Imatinib, dasatinib, nilotinib, bosutinib, ponatinib, omacetaxine mepesuccinate | >95% |
| UGT1A1 | Nilotinib | 30% | |
| Cutaneous T-cell lymphoma | CD-25/IL2RA | Denileukin diftitox | 75% |
| Chronic lymphocytic leukemia (CLL) | del(17p) | Ibrutinib | 3%–8% at diagnosis; up to 30% in refractory CLL |
| CD20/MS4A1 | Obinutuzumab, rituximab | 25% | |
| Acute lymphocytic leukemia | TPMT | 6-Mercaptopurine, thioguanine | <5% |
| Non-Hodgkin’s lymphoma | CD20/MS4A1 | Rituximab, tositumomab | >90% |
Note: Data from http://www.fda.gov/drugs/scienceresearch/researchareas/pharmacogenetics/ucm083378.htm.87
Abbreviations: DPYD, dihydropyrimidine dehydrogenase; UGT1A1, uridinediphosphate glucuronosyl transferase 1A1; ALK, anaplastic lymphoma kinase; CD, cluster of differentiation; del(17p), deletion 17p; TPMT, thiopurine-S-methyltransferase; FDA, Food and Drug Administration.