Breast Cancer Translational Laboratory, Université Libre de Bruxelles, Jules Bordet Institute, Brussels, Belgium.
Curr Opin Oncol. 2012 Nov;24(6):597-604. doi: 10.1097/CCO.0b013e328359554e.
We are currently on the threshold of a revolution in breast cancer research, thanks to the emergence of novel technologies based on next-generation sequencing (NGS). In this review, we will describe the different sequencing technologies and platforms, and summarize the main findings from the latest sequencing articles in breast cancer.
Firstly, the sequencing of a few hundreds of breast tumors has revealed new cancer genes. Although these were not frequently mutated, mutated genes from different patients could be grouped into the deregulation of similar pathways. Secondly, NGS allowed further exploration of intratumor heterogeneity and revealed that although subclonal mutations were present in all tumors, there was always a dominant clone, which comprised at least 50% of the tumor cells. Finally, tumor-specific DNA rearrangements could be detected in the patient's plasma, suggesting that NGS could be used to personalize the monitoring of the disease.
The application of NGS to breast cancer has been associated with tremendous advances and promises for increasing the understanding of the disease. However, there still remain many unanswered questions, such as the role of structural changes of tumor genomes in cancer progression and treatment response/resistance.
得益于新一代测序（NGS）相关新技术的出现，我们目前正处于乳腺癌研究革命的边缘。在这篇综述中，我们将描述不同的测序技术和平台，并总结乳腺癌最新测序研究的主要发现。
首先，对数百个乳腺癌肿瘤的测序揭示了新的癌症基因。虽然这些基因并非经常发生突变，但来自不同患者的突变基因可以被归类为相似途径的失调。其次，NGS 允许进一步探索肿瘤内异质性，并揭示尽管所有肿瘤中都存在亚克隆突变，但始终存在一个占主导地位的克隆，其至少包含 50%的肿瘤细胞。最后，可以在患者的血浆中检测到肿瘤特异性的 DNA 重排，这表明 NGS 可用于个性化监测疾病。
NGS 在乳腺癌中的应用取得了巨大的进展，并有望加深对该疾病的理解。然而，仍有许多悬而未决的问题，例如肿瘤基因组结构变化在癌症进展和治疗反应/耐药性中的作用。
