研究动态
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等位基因频率的变异:精准肿瘤学中的决策工具?

Variant of allele frequency: a decision-making tool in precision oncology?

发表日期:2023 Sep 11
作者: Luca Boscolo Bielo, Dario Trapani, Matteo Repetto, Edoardo Crimini, Carmine Valenza, Carmen Belli, Carmen Criscitiello, Antonio Marra, Vivek Subbiah, Giuseppe Curigliano
来源: Trends in Cancer

摘要:

精准肿瘤学需要额外的预测性生物标志物用于选择靶向治疗。变异等位基因频率(VAF)用于测量基因组位点内变异等位基因的比例,能够揭示体细胞基因组检测中肿瘤克隆性的特征,从而为针对优势癌细胞群体的治疗提供了有力的理论依据。在不同研究中,已经对VAF的预后和预测作用进行了评估。然而,缺乏经验证的VAF阈值以及测序分析方法之间的标准化问题,目前阻碍了其临床应用。因此,需进一步开展分析和临床验证。本综述总结了关于VAF作为预测性生物标志物的证据,并讨论了其作为针对靶向治疗选择的决策工具在临床实施中的挑战和机遇。版权所有 © 2023 Elsevier Inc.保留所有权利。
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.Copyright © 2023 Elsevier Inc. All rights reserved.