Whole Cancer Genome Sequencing by Next-Generation Methods
Whole Cancer Genome Sequencing by Next-Generation Methods
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DOI：
10.1309/ajcpr1svt1vhugxw
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发表时间：
2011-10-01
影响因子：
3.5
通讯作者：
Cronin, Maureen
中科院分区：
文献类型：
--
作者：
Ross, Jeffrey S.;Cronin, Maureen
传统的序列分析方法被广泛用于指导肺癌和结直肠癌患者以及黑色素瘤、肉瘤（如胃肠道间质瘤）和白血病和淋巴瘤亚型患者的治疗。与传统方法相比，下一代测序（NGS）方法具有许多潜在优势，包括能够在一次测试中对大量基因（数百至数千个）进行完全测序，并同时检测所有已知癌症相关基因中的缺失、插入、拷贝数改变、易位和外显子组范围的碱基取代（包括已知的“热点突变”）。采用临床NGS测试将对实验室基础设施提出重大要求，并需要广泛的计算专业知识和对癌症医学和生物学的深入了解，以生成真正有用的“临床可操作”报告。预计NGS技术的持续进步将降低总体成本，加快周转时间，增加基因组测序的广度，检测表观遗传标记和其他重要的基因组参数，并适用于越来越小的标本，包括循环肿瘤细胞和血浆中的循环游离DNA。
Traditional approaches to sequence analysis are widely used to guide therapy for patients with lung and colorectal cancer and for patients with melanoma, sarcomas (eg, gastrointestinal stromal tumor), and subtypes of leukemia and lymphoma. The next-generation sequencing (NGS) approach holds a number of potential advantages over traditional methods, including the ability to fully sequence large numbers of genes (hundreds to thousands) in a single test and simultaneously detect deletions, insertions, copy number alterations, translocations, and exome-wide base substitutions (including known "hot-spot mutations") in all known cancer-related genes. Adoption of clinical NGS testing will place significant demands on laboratory infrastructure and will require extensive computational expertise and a deep knowledge of cancer medicine and biology to generate truly useful "clinically actionable" reports. It is anticipated that continuing advances in NGS technology will lower the overall cost, speed the turnaround time, increase the breadth of genome sequencing, detect epigenetic markers and other important genomic parameters, and become applicable to smaller and smaller specimens, including circulating tumor cells and circulating free DNA in plasma.