Lowy Cancer Research Centre and Prince of Wales Clinical School, University of New South Wales, Kensington, New South Wales, Australia.
Curr Opin Genet Dev. 2010 Jun;20(3):290-8. doi: 10.1016/j.gde.2010.02.005. Epub 2010 Mar 31.
Germline sequence mutations in tumour suppressor genes can cause cancer predisposition syndromes. More recently, epimutations have also been proposed to cause at least one such syndrome, hereditary non-polyposis colorectal cancer (HNPCC). 'Epigenetic predisposition', is defined as an inherited propensity to an altered epigenetic state in normal tissues that confers a predisposition to disease. Genetic sequence variations acting in cis or trans may contribute to epigenetic variations. Understanding the origin of epimutations will inform cancer risk assessment and will also aid the design and application of new therapies that target the epigenome.
肿瘤抑制基因中的种系序列突变可导致癌症易感性综合征。最近，有人提出表观遗传改变也至少可导致一种此类综合征，即遗传性非息肉病性结直肠癌（HNPCC）。“表观遗传易感性”被定义为正常组织中发生改变的表观遗传状态的遗传倾向，从而导致疾病易感性。顺式或反式作用的遗传序列变异可能导致表观遗传变异。了解表观突变的起源将有助于癌症风险评估，并有助于设计和应用针对表观基因组的新疗法。
