Department of Twin Research & Genetic Epidemiology, St Thomas' Hospital, King's College London, London, SE1 7EH, UK.
Epigenomics. 2014 Jun;6(3):299-309. doi: 10.2217/epi.14.13.
Cancer is a set of diseases that exhibit not only genetic mutations but also a profoundly distorted epigenetic landscape. Over the last two decades, great advances have been made in identifying these alterations and their importance in the initiation and progression of cancer. Epigenetic changes can be seen from the very early stages in tumorigenesis and dysregulation of the epigenome has an increasingly acknowledged pathogenic role. Epigenomic twin studies have great potential to contribute to our understanding of complex diseases, such as cancer. This is because the use of monozygotic twins discordant for cancer enables epigenetic variation analysis without the confounding influence of the constitutive genetic background, age or cohort effects. It therefore allows the identification of susceptibility loci that may be sensitive to modification by the environment. These studies into cancer etiology will potentially lead to robust epigenetic markers for the detection and risk assessment of cancer.
癌症是一组疾病，不仅表现出遗传突变，而且还表现出明显扭曲的表观遗传景观。在过去的二十年中，在识别这些改变及其在癌症的发生和进展中的重要性方面取得了巨大进展。在肿瘤发生的早期阶段就可以看到表观遗传变化，并且表观基因组的失调具有越来越被认可的发病作用。表观基因组双胞胎研究有可能为我们理解复杂疾病（如癌症）做出贡献。这是因为使用在癌症方面存在差异的同卵双胞胎可以进行表观遗传变异分析，而不会受到固有遗传背景、年龄或队列效应的干扰。因此，它可以识别可能容易受到环境影响的易感基因座。这些癌症病因学研究将有可能为癌症的检测和风险评估提供稳健的表观遗传标志物。
