Wang Ru, Li Xiao, Zhang Huimin, Wang Ke, He Jianjun
Department of Breast Surgery, The First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, P.R. China.
Oncotarget. 2017 Sep 1;8(43):75742-75755. doi: 10.18632/oncotarget.20608. eCollection 2017 Sep 26.
Circulating tumor DNA (ctDNA) in the blood of cancer patients contains much information on genetic and epigenetic profiles associated with cancer development, progression, and response to therapy. Analysis of ctDNA provides an opportunity for non-invasive sampling of tumor DNA repetitiously and therefore advance precision medicine. Recent development in massively parallel sequencing and digital genomic techniques support the analytical and clinical validity of ctDNA as a promising 'liquid biopsy' in human cancer. In this review, we discussed the current status of cell-free ctDNA including ctDNA biology, recently developed techniques for ctDNA detection, breast cancer specific detecting strategies, with a focus on clinical applications of ctDNA-based biomarkers in breast oncology.
癌症患者血液中的循环肿瘤DNA（ctDNA）包含了许多与癌症发生、发展及治疗反应相关的基因和表观遗传特征信息。对ctDNA的分析为重复进行肿瘤DNA的非侵入性采样提供了机会，从而推动精准医学的发展。大规模平行测序和数字基因组技术的最新进展支持了ctDNA作为一种有前景的人类癌症“液体活检”的分析和临床有效性。在本综述中，我们讨论了游离ctDNA的现状，包括ctDNA生物学、最近开发的ctDNA检测技术、乳腺癌特异性检测策略，重点关注基于ctDNA的生物标志物在乳腺肿瘤学中的临床应用。
