Verma Mukesh
Epidemiology and Genomics Research Program, Division of Cancer Control and Population Sciences, National Cancer Institute (NCI), National Institutes of Health (NIH), Suite# 4E102. 9609 Medical Center Drive, MSC 9763, Bethesda, MD, 20892-9726, USA.
Adv Exp Med Biol. 2015;867:59-80. doi: 10.1007/978-94-017-7215-0_5.
Epigenetics plays a key role in cancer development. Genetics alone cannot explain sporadic cancer and cancer development in individuals with no family history or a weak family history of cancer. Epigenetics provides a mechanism to explain the development of cancer in such situations. Alterations in epigenetic profiling may provide important insights into the etiology and natural history of cancer. Because several epigenetic changes occur before histopathological changes, they can serve as biomarkers for cancer diagnosis and risk assessment. Many cancers may remain asymptomatic until relatively late stages; in managing the disease, efforts should be focused on early detection, accurate prediction of disease progression, and frequent monitoring. This chapter describes epigenetic biomarkers as they are expressed during cancer development and their potential use in cancer diagnosis and prognosis. Based on epigenomic information, biomarkers have been identified that may serve as diagnostic tools; some such biomarkers also may be useful in identifying individuals who will respond to therapy and survive longer. The importance of analytical and clinical validation of biomarkers is discussed, along with challenges and opportunities in this field.
表观遗传学在癌症发展中起着关键作用。仅遗传学无法解释散发性癌症以及无癌症家族史或癌症家族史薄弱个体的癌症发展情况。表观遗传学提供了一种机制来解释此类情况下癌症的发生发展。表观遗传图谱的改变可能为癌症的病因和自然史提供重要见解。由于几种表观遗传变化发生在组织病理学变化之前，它们可作为癌症诊断和风险评估的生物标志物。许多癌症在相对较晚阶段之前可能一直无症状；在疾病管理中，应将重点放在早期检测、准确预测疾病进展以及频繁监测上。本章描述了表观遗传生物标志物在癌症发展过程中的表达情况及其在癌症诊断和预后中的潜在用途。基于表观基因组信息，已鉴定出可作为诊断工具的生物标志物；其中一些生物标志物在识别对治疗有反应且生存期较长的个体方面也可能有用。文中还讨论了生物标志物分析和临床验证的重要性，以及该领域面临的挑战和机遇。
