Sengupta Neel, Gill Kathryn A, MacFie Tammie S, Lai Cecilia S, Suraweera Nirosha, Mcdonald Sarah, Silver Andrew
Colorectal Cancer Genetics Group, Institute of Cell, and Molecular Science, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, 4 Newark Street, Whitechapel, London E1 2AT, UK.
Pathol Res Pract. 2008;204(7):469-77. doi: 10.1016/j.prp.2008.03.003. Epub 2008 Jun 4.
Colorectal cancer remains one of the most common cancers in the Western world and amongst the top three causes of cancer morbidity and death. Cancer is caused by genetic mutations, but currently there is little use of genetic information in the clinic with the exception of establishing germline mutations for the uncommon predisposing syndromes. Rapid advances in technologies allowing high throughput analysis of germline and somatic mutations raises the possibility that genetics will find a major role in the clinic distinguishing individuals at low to high risk of cancer, allowing early intervention and stratification of cancers based on mutational pathways for therapeutic interventions. In the future, this will lead to treatment regimes tailored to the individuals and their tumor. Here, we summarize the genetics underlying colorectal cancer and the future role of genetics in prevention, diagnosis, classification and treatment.
结直肠癌仍然是西方世界最常见的癌症之一，也是癌症发病率和死亡率的三大主要原因之一。癌症是由基因突变引起的，但目前除了为罕见的易患综合征确定种系突变外，基因信息在临床上几乎没有应用。能够对种系和体细胞突变进行高通量分析的技术的快速发展，增加了遗传学在临床上发挥重要作用的可能性，即区分癌症低风险至高风险个体，实现早期干预，并根据突变途径对癌症进行分层以进行治疗干预。未来，这将导致针对个体及其肿瘤的个性化治疗方案。在此，我们总结了结直肠癌的遗传学基础以及遗传学在预防、诊断、分类和治疗方面的未来作用。
