Roos Alison, Byron Sara A
Integrated Cancer Genomics Division, Translational Genomics Research Institute, Phoenix, AZ, USA.
Cancer Treat Res. 2019;178:137-169. doi: 10.1007/978-3-030-16391-4_5.
Genomic information is increasingly being incorporated into clinical cancer care. Large-scale sequencing efforts have deepened our understanding of the genomic landscape of cancer and contributed to the expanding catalog of alterations being leveraged to aid in cancer diagnosis, prognosis, and treatment. Genomic profiling can provide clinically relevant information regarding somatic point mutations, copy number alterations, translocations, and gene fusions. Genomic features, such as mutational burden, can also be measured by more comprehensive sequencing strategies and have shown value in informing potential treatment options. Ongoing clinical trials are evaluating the use of molecularly targeted agents in genomically defined subsets of cancers within and across tumor histologies. Continued advancements in clinical genomics promise to further expand the application of genomics-enabled medicine to a broader spectrum of oncology patients.
基因组信息正越来越多地被纳入临床癌症护理中。大规模测序工作加深了我们对癌症基因组格局的理解，并为不断扩大的可用于辅助癌症诊断、预后和治疗的变异目录做出了贡献。基因组分析可以提供有关体细胞点突变、拷贝数改变、易位和基因融合的临床相关信息。诸如突变负荷等基因组特征也可以通过更全面的测序策略进行测量，并已显示出在指导潜在治疗选择方面的价值。正在进行的临床试验正在评估分子靶向药物在肿瘤组织学内部和之间的基因组定义的癌症亚组中的应用。临床基因组学的持续进展有望进一步将基于基因组的医学应用扩展到更广泛的肿瘤患者群体。
