Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA 02115, USA.
Proc Natl Acad Sci U S A. 2011 Jul 26;108(30):12372-7. doi: 10.1073/pnas.1109363108. Epub 2011 Jul 11.
A comprehensive understanding of the molecular vulnerabilities of every type of cancer will provide a powerful roadmap to guide therapeutic approaches. Efforts such as The Cancer Genome Atlas Project will identify genes with aberrant copy number, sequence, or expression in various cancer types, providing a survey of the genes that may have a causal role in cancer. A complementary approach is to perform systematic loss-of-function studies to identify essential genes in particular cancer cell types. We have begun a systematic effort, termed Project Achilles, aimed at identifying genetic vulnerabilities across large numbers of cancer cell lines. Here, we report the assessment of the essentiality of 11,194 genes in 102 human cancer cell lines. We show that the integration of these functional data with information derived from surveying cancer genomes pinpoints known and previously undescribed lineage-specific dependencies across a wide spectrum of cancers. In particular, we found 54 genes that are specifically essential for the proliferation and viability of ovarian cancer cells and also amplified in primary tumors or differentially overexpressed in ovarian cancer cell lines. One such gene, PAX8, is focally amplified in 16% of high-grade serous ovarian cancers and expressed at higher levels in ovarian tumors. Suppression of PAX8 selectively induces apoptotic cell death of ovarian cancer cells. These results identify PAX8 as an ovarian lineage-specific dependency. More generally, these observations demonstrate that the integration of genome-scale functional and structural studies provides an efficient path to identify dependencies of specific cancer types on particular genes and pathways.
全面了解每种癌症的分子弱点将为指导治疗方法提供有力的路线图。像癌症基因组图谱项目(The Cancer Genome Atlas Project)这样的努力将确定各种癌症类型中具有异常拷贝数、序列或表达的基因,从而对可能在癌症中起因果作用的基因进行调查。另一种互补的方法是进行系统的功能丧失研究,以确定特定癌症类型中的必需基因。我们已经开始了一项系统的努力,称为 Achilles 项目(Project Achilles),旨在鉴定大量癌细胞系中的遗传弱点。在这里,我们报告了对 102 个人类癌细胞系中的 11194 个基因的必需性评估。我们表明,将这些功能数据与从癌症基因组调查中得出的信息相结合,可以确定广泛癌症谱中的已知和以前未描述的谱系特异性依赖性。特别是,我们发现了 54 个基因,这些基因对于卵巢癌细胞的增殖和存活是特异性必需的,并且在原发性肿瘤中扩增或在卵巢癌细胞系中差异过表达。这样的一个基因是 PAX8,在 16%的高级别浆液性卵巢癌中存在焦点扩增,并在卵巢肿瘤中表达水平更高。PAX8 的抑制选择性地诱导卵巢癌细胞的凋亡性细胞死亡。这些结果将 PAX8 鉴定为卵巢谱系特异性依赖性。更一般地说,这些观察结果表明,整合基因组规模的功能和结构研究提供了一种有效的途径,可以确定特定癌症类型对特定基因和途径的依赖性。