The genetic basis and clinical application of heterogeneity of breast cancer

乳腺癌在病理学、临床生物学及分子谱水平上表现高度异质性。迄今推行的乳腺癌分类及危险性评估方案，综合运用多项临床和病理因素对患者进行分类，指导临床多样化治疗方案的制定和预后评估。近数十年来，几次技术浪潮推动对肿瘤基因组突变认识的加深，尤其是高通量测序技术的诞生和应用，使对细胞全套分子改变进行系统分析成为可能，人们对肿瘤基因组突变演进、肿瘤生物学和异质性遗传学本质的认识进入全新时代。本文综述了近年来乳腺癌研究领域几类重要技术，尤其是二代测序技术的应用给乳腺癌异质性认识带来的进步。Breast cancer is comprised of a group of heterogeneous diseases that differ significantly in their clinic?pathologic characteristics and molecular profiles. For many years, this disease has been classified according to the integral clinicopathological factors, to provide a dictates for institution of therapeutic approach. Over the past decades, several waves of technology have advanced the characterization of mutations in cancer genomes, especially the emerge and application of high?through next?generation sequencing technique. It has enabled systematic characterization of the full repertoire of molecular diversity of cancer cells, and yielded substantial insights into the genomic mutation and evolution, the intrinsic genetic nature of biology and heterogeneity in human cancer. This article aims to describe recent advances and application of advanced technologies towards the identification of heterogeneity of breast cancer.中国科学引文数据库(CSCD)2104-1085