Breast cancer is a heterogeneous disease, with different subtypes having a distinct biological, molecular, and clinical course. Assessments of standard clinical and pathological features have traditionally been used to determine the use of adjuvant systemic therapy in patients with early stage breast cancer; however, the ability to identify those who will benefit from adjuvant chemotherapy remains a challenge, leading to the overtreatment of some patients. Advances in molecular medicine have substantially improved the accuracy of gene-expression profiling of breast tumours, resulting in improvements in the ability to predict a patient's risk of breast cancer recurrence and likely response to endocrine therapy and/or chemotherapy. These genomic assays, several of which are commercially available, have aided physicians in tailoring treatment decisions for patients at the individual level. Herein, we describe the available data on the clinical validity of the most widely available assays in patients with early stage breast cancer, with a focus on the development, validation, and clinical application of these assays, in addition to the anticipated outcomes of ongoing prospective trials. We also review data from comparative studies of these assays and from cost-effectiveness analyses relating to their clinical use.

中文翻译：

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基因表达特征在早期乳腺癌中的临床应用

乳腺癌是一种异质性疾病，具有不同的亚型，具有不同的生物学，分子和临床过程。传统上，对标准临床和病理学特征的评估已被用于确定早期乳腺癌患者辅助系统治疗的应用。然而，确定将受益于辅助化疗的患者的能力仍然是一个挑战，导致某些患者的过度治疗。分子医学的进步已大大提高了乳腺癌基因表达谱分析的准确性，从而提高了预测患者乳腺癌复发风险以及对内分泌治疗和/或化疗可能产生反应的能力。这些基因组测定法（其中几种是可商购的）已协助医生为个体患者量身定制治疗方案。本文中，我们描述了有关早期乳腺癌患者中最广泛使用的测定方法的临床有效性的可用数据，重点是这些测定法的开发，验证和临床应用，以及持续进行的前瞻性预期结果审判。我们还将审查来自这些测定法的比较研究以及与它们的临床用途相关的成本效益分析的数据。除了正在进行的前瞻性试验的预期结果。我们还将审查来自这些测定法的比较研究以及与它们的临床用途相关的成本效益分析的数据。除了正在进行的前瞻性试验的预期结果。我们还将审查来自这些测定法的比较研究以及与它们的临床用途相关的成本效益分析的数据。