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Biomarkers and Mutations

Educational orientation

Source-checked: 2026-06-05. This page explains concepts; it does not interpret genomic results.

Core Idea

A biomarker is a measurable feature that can help describe disease, risk, prognosis, or treatment relevance. A mutation is a DNA change; some mutations help drive cancer, some are passengers, and some have no clear meaning in a given context.

Modern oncology often uses biomarkers from tissue, blood, imaging, or molecular assays. The meaning depends on the cancer type, test method, evidence level, and clinical setting.

Essential Vocabulary

  • Driver: alteration that contributes to cancer behavior.
  • Passenger: alteration not known to drive disease.
  • Predictive biomarker: associated with response to a therapy.
  • Prognostic biomarker: associated with outcome regardless of therapy.

What This Does Not Mean

A mutation listed in a report is not automatically actionable. Evidence, indication, and assay validity matter.

Builder/Data Lens

Variant annotation needs genome build, transcript, allele fraction, test type, and knowledgebase version.

Go Deeper

References

  1. National Cancer Institute. Biomarker Testing for Cancer Treatment
  2. National Cancer Institute. The Genetics of Cancer

Early public release. Content evolves through continuous review. Questions: [email protected] · CC BY 4.0 where applicable.