Table 1.

Glossary of precision oncology terms

Somatic gene variant: Single nucleotide variant (SNV), copy number variant (CNV) or rearrangement identified in tumor. Of note, when tumor only sequencing is performed it can be difficult to know whether an identified gene variant, in particular an SNV, is somatic or germline

Actionable variant: Gene variant determined to be likely to alter protein function and with evidence linking that variant to a response to targeted therapy

Targeted therapy: Drug with known and specific mechanism of action

Evidence: Results of pre-existing research used to link genomic variants to clinical significance such as potential for response to targeted therapy

Precision medicine trial: Clinical trial in which patient selection/eligibility for receipt of targeted therapy is determined by presence or absence of biomarker

Biomarker: Gene variant or test measuring the presence of the gene variant that is expected to predict response to targeted therapy