循环肿瘤DNA检测在乳腺癌诊治中的临床应用

Clinical application of circulating tumor DNA detection in the diagnosis and treatment of breast cancer

乳腺癌是我国女性最常见恶性肿瘤之一,也是我国女性死亡率第二的恶性肿瘤.乳腺癌具有高度异质性,目前乳腺癌相关诊疗已进入分子分型指导下的个体化诊疗时代.循环肿瘤DNA是一种信息量较大、稳定,特异性和灵敏度均较高的转移性生物标记,其突变来自肿瘤细胞的体细胞突变,能够较好地克服肿瘤异质性.在乳腺癌领域,循环肿瘤DNA是近年来的研究热点,为早期诊断、监测疗效、探索耐药等方面提供了循证医学证据.本研究对循环肿瘤DNA生物学特性、检测方法及其在乳腺癌领域的研究进展进行综述,并对其今后应用作出展望.

Breast cancer is one of the most common malignancies in women in China,and the second malignancy in female mortality in China. With a high degree of heterogeneity,the current diagnosis and treatment of breast cancer has entered the era of individual diagnosis and treatment under the guidance of molecular classification. Circulating tumor DNA（ ctDNA） has been considered to be metastatic biomarkers with large amount of genetic information,which is stable,and has high specificity and sensitivity. Its mutations come from somatic mutations of tumor cells,which may better overcome tumor heterogeneity. In the field of breast cancer,ctDNA is a hotspot in recent years. Lots of research on the ctDNA has provided evidence-based medical evidences for early diagnosis,monitoring efficacy,drug resistance and other fields. In this study, we review the biological characteristics detection methods and progress of ctDNA in the field of breast cancer,and make a summary to its further application.