Variant allele frequency: A decision-making tool in precision oncology? Review


Authors: Boscolo Bielo, L.; Trapani, D.; Repetto, M.; Crimini, E.; Valenza, C.; Belli, C.; Criscitiello, C.; Marra, A.; Subbiah, V.; Curigliano, G.
Review Title: Variant allele frequency: A decision-making tool in precision oncology?
Abstract: Precision oncology requires additional predictive biomarkers for targeted therapy selection. Variant allele frequency (VAF), measuring the proportion of variant alleles within a genomic locus, provides insights into tumor clonality in somatic genomic testing, yielding a strong rationale for targeting dominant cancer cell populations. The prognostic and predictive roles of VAF have been evaluated across different studies. Yet, the absence of validated VAF thresholds and a lack of standardization between sequencing assays currently hampers its clinical utility. Therefore, analytical and clinical validation must be further examined. This Review summarizes the evidence regarding the use of VAF as a predictive biomarker and discusses challenges and opportunities for its clinical implementation as a decision-making tool for targeted therapy selection. © 2023 Elsevier Inc.
Keywords: somatic mutation; genetics; mutation; review; neoplasm; neoplasms; medical decision making; genetic variability; gene frequency; cell population; oncology; clonal variation; medical oncology; targeted therapy; genetic marker; predictive value; personalized medicine; molecularly targeted therapy; cancer prognosis; predictive biomarker; biomarker qualification; humans; human; precision medicine; variant allele frequency; precision oncology; personalized cancer therapy
Journal Title: Trends in Cancer
Volume: 9
Issue: 12
ISSN: 2405-8025
Publisher: Cell Press  
Date Published: 2023-12-01
Start Page: 1058
End Page: 1068
Language: English
DOI: 10.1016/j.trecan.2023.08.011
PUBMED: 37704501
PROVIDER: scopus
DOI/URL:
Notes: Source: Scopus
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  1. Matteo Repetto
    26 Repetto