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Abstract：
Multigene prognostic genomic assays have become indispensable in managing early breast cancer (EBC), offering crucial information for risk stratification and guiding adjuvant treatment strategies in conjunction with traditional clinicopathological parameters. The American Society of Clinical Oncology (ASCO) guidelines endorse these assays, though some clinical contexts still lack definitive recommendations. The dynamic landscape of EBC management demands further refinement and optimization of genomic assays to streamline their incorporation into clinical practice. The breast cancer community is poised at the brink of transformative advances in enhancing the clinical utility of genomic assays, aiming to significantly improve the precision and effectiveness of both diagnosis and treatment for women with EBC. This article methodically examines the testing methodologies, clinical validity and utility, costs, diagnostic frameworks, and methodologies of the established genomic tests, including the Oncotype Dx Breast Recurrence Score®, MammaPrint, Prosigna®, EndoPredict®, and Breast Cancer Index (BCI). Among these tests, Prosigna and EndoPredict® have at present been validated only on a prognostic level, while Oncotype Dx, MammaPrint, and BCI hold both a prognostic and predictive role. Oncologists and pathologists engaged in the management of EBC will find in this review a thorough comparison of available genomic assays, as well as strategies to optimize the utilization of the information derived from them.
摘要：
多基因预后基因组分析已成为管理早期乳腺癌（EBC）不可或缺的，结合传统的临床病理参数，为风险分层和指导辅助治疗策略提供重要信息。美国临床肿瘤学会（ASCO）指南认可这些检测方法，尽管一些临床背景仍然缺乏明确的建议。EBC管理的动态景观需要进一步完善和优化基因组测定，以简化其纳入临床实践。乳腺癌社区正处于提高基因组分析的临床效用的变革性进展的边缘，旨在显着提高女性EBC诊断和治疗的准确性和有效性。本文有条不紊地研究了测试方法，临床有效性和实用性，成本,诊断框架，和已建立的基因组测试方法，包括OncotypeDx乳房复发评分®，MammaPrint,Prosigna®,EndoPredict®,乳腺癌指数（BCI）。在这些测试中，Prosigna和EndoPredict®目前仅在预后水平上得到验证，而OncotypeDx,MammaPrint,BCI具有预测和预测作用。参与EBC管理的肿瘤学家和病理学家将在这篇综述中发现对可用的基因组测定的彻底比较，以及优化利用从中获得的信息的策略。
