LTTA, Dept. of Morphology, Surgery and Experimental Medicine, Human Anatomy Branch, University of Ferrara, Italy.
Cancer Lett. 2013 Oct 1;339(1):1-7. doi: 10.1016/j.canlet.2013.07.018. Epub 2013 Jul 20.
For many years breast cancer classification has been based on histology and immune-histochemistry. New techniques, more strictly related to cancer biology, partially succeeded in fractionating patients, correlated to survival and better predicted the patient response to therapy. Nowadays, great expectations arise from massive parallel or high throughput next generation sequencing. Cancer genomics has already revolutionized our knowledge of breast cancer molecular pathology, paving the way to the development of new and more effective clinical protocols. This review is focused on the most recent advances in the field of cancer genomics and epigenomics, including DNA alterations and driver gene mutations, gene fusions, DNA methylation and miRNA expression.
多年来，乳腺癌的分类一直基于组织学和免疫组织化学。与癌症生物学更密切相关的新技术部分成功地对患者进行了细分，与生存相关，并更好地预测了患者对治疗的反应。如今，大规模平行或高通量的下一代测序技术带来了巨大的期望。癌症基因组学已经彻底改变了我们对乳腺癌分子病理学的认识，为开发新的、更有效的临床方案铺平了道路。本文综述了癌症基因组学和表观基因组学领域的最新进展，包括 DNA 改变和驱动基因突变、基因融合、DNA 甲基化和 miRNA 表达。
