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Updated: Jul 16, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Variant allele frequency: a decision-making tool in precision oncology?
Luca Boscolo Bielo1, Dario Trapani1, Matteo Repetto2
1Division of New Drugs and Early Drug Development for Innovative Therapies, European Institute of Oncology, IRCCS, Milan, Italy; Department of Oncology and Hemato-Oncology, University of Milan, Milan, Italy.
Variant allele frequency (VAF) shows promise as a predictive biomarker in precision oncology for selecting targeted therapies. Further validation is needed to standardize its clinical use.
Area of Science:
- Oncology
- Genomics
- Biomarker Discovery
Background:
- Precision oncology relies on predictive biomarkers for targeted therapy selection.
- Variant allele frequency (VAF) offers insights into tumor clonality and dominant cancer cell populations.
Purpose of the Study:
- To review the evidence for VAF as a predictive biomarker.
- To discuss challenges and opportunities for VAF's clinical implementation in targeted therapy selection.
Main Methods:
- Review of existing studies on VAF's prognostic and predictive roles.
- Analysis of VAF's utility in somatic genomic testing.
Main Results:
- VAF has demonstrated potential in identifying targetable cancer cell populations.
- Current limitations include the lack of validated VAF thresholds and assay standardization.
Conclusions:
- VAF holds promise as a predictive biomarker in precision oncology.
- Further analytical and clinical validation is crucial for its widespread clinical utility.
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