Sjöblom Tobias
Department of Genetics and Pathology, Uppsala University, Sweden.
Curr Opin Oncol. 2008 Jan;20(1):66-71. doi: 10.1097/CCO.0b013e3282f31108.
The availability of a reference human genome sequence has enabled unbiased mutational analyses of tumor genomes to identify the mutated genes that cause cancer. This review discusses recent insights from such analyses of protein-coding genes in breast and colorectal cancers.
Mutational analyses of approximately 18,000 human protein-coding genes in breast and colorectal cancers have identified 280 candidate cancer genes. These include known cancer genes, but most had not previously been linked to cancer. There are few frequently mutated cancer genes among hundreds of less frequently mutated candidate cancer genes, and the compendium of mutated genes differs among tumors of the same tissue origin.
Recent work has shown the feasibility of coding cancer genome sequencing, and new technologies promise to facilitate these mutational analyses. Whereas cancer genetics can identify candidate genes in a rapid and scalable fashion, careful functional studies of mutated genes are required for ultimate proof of cancer gene status and translation into clinical utility. The rapid progress of cancer genetics has yielded novel diagnostic and therapeutic modalities, and cancer genome sequencing will accelerate this development to the benefit of cancer patients.
人类参考基因组序列的可用性使得对肿瘤基因组进行无偏倚的突变分析成为可能，从而能够识别导致癌症的突变基因。本综述讨论了近期对乳腺癌和结直肠癌蛋白质编码基因进行此类分析所获得的见解。
对乳腺癌和结直肠癌中约18,000个人类蛋白质编码基因的突变分析已确定了280个候选癌症基因。这些基因包括已知的癌症基因，但大多数以前未与癌症相关联。在数百个较少发生突变的候选癌症基因中，很少有频繁发生突变的癌症基因，并且相同组织来源的肿瘤中突变基因的汇总情况也有所不同。
近期的研究表明了编码癌症基因组测序的可行性，新技术有望促进这些突变分析。虽然癌症遗传学能够快速且可扩展地识别候选基因，但要最终证明癌症基因的状态并转化为临床应用，还需要对突变基因进行仔细的功能研究。癌症遗传学的快速进展已经产生了新的诊断和治疗方式，癌症基因组测序将加速这一发展，造福癌症患者。
