精确肿瘤学
精密医学
等位基因
生物标志物
肿瘤科
基因座(遗传学)
靶向治疗
等位基因频率
个性化医疗
计算生物学
生物
医学
生物信息学
内科学
癌症
遗传学
基因
作者
Luca Boscolo Bielo,Dario Trapani,Matteo Repetto,Edoardo Crimini,Carmine Valenza,Carmen Belli,Carmen Criscitiello,Antonio Marra,Vivek Subbiah,Giuseppe Curigliano
标识
DOI:10.1016/j.trecan.2023.08.011
摘要
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.
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