Gabriel Stacey
Broad Institute of Harvard and Massachusetts Institute of Technology, 1 Kendall Square, Cambridge, MA 02139, USA.
Semin Oncol. 2007 Apr;34(2 Suppl 1):S21-4. doi: 10.1053/j.seminoncol.2007.01.008.
The availability of a reference human genome sequence, an increasingly dense catalog, knowledge of common genetic variation, and new developments in technology present an unprecedented opportunity to systematically explore the genetic basis of complex human diseases such as cancer. An understanding of the common mutations that can cause distinct human cancers will be critical for identifying new targets for drug discovery, patient stratification for clinical trials, and analysis of drug response data to delineate classes of patients that respond to therapy. The genome structure of cancer can be examined in several ways: (1) large-scale case-control or family studies can investigate germline mutations; and (2) state-of-the-art genomic technologies (eg, high-density oligonucleotide arrays and targeted re-sequencing), can identify somatic alterations. Combined, these approaches will lead to a better understanding of the cancer genome.
人类参考基因组序列的可得性、日益密集的目录、常见遗传变异的知识以及技术的新发展，为系统探索诸如癌症等复杂人类疾病的遗传基础提供了前所未有的机会。了解可能导致不同人类癌症的常见突变，对于确定药物研发的新靶点、临床试验的患者分层以及分析药物反应数据以划分对治疗有反应的患者类别至关重要。癌症的基因组结构可以通过几种方式进行研究：（1）大规模病例对照研究或家族研究可以调查种系突变；（2）先进的基因组技术（如高密度寡核苷酸阵列和靶向重测序）可以识别体细胞改变。综合这些方法将有助于更好地理解癌症基因组。
