Genetic and epigenetic biomarkers for diagnosis, prognosis and treatment of colorectal cancer
Genetic and epigenetic biomarkers for diagnosis, prognosis and treatment of colorectal cancer
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DOI：
10.3748/wjg.v20.i4.943
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发表时间：
2014-01-28
影响因子：
4.3
通讯作者：
Migliore, Lucia
中科院分区：
文献类型：
--
作者：
Coppede, Fabio;Lopomo, Angela;Migliore, Lucia
结直肠癌（Colorectal cancer， CRC）是世界范围内最常见的癌症之一，是由结肠粘膜细胞的突变和增殖积累最终导致细胞增殖和转移的结果。不幸的是，结直肠癌预后仍然很差，因此迫切需要寻找新的诊断和预后生物标志物来预防结直肠癌相关的死亡。本文旨在总结有关使用遗传或表观遗传（主要与DNA甲基化有关）生物标志物进行结直肠癌诊断、预后和治疗反应的最新发现。最近的大规模DNA甲基化研究表明，根据DNA甲基化的频率和CRC关键基因突变的频率，CRC可以分为几个亚型，这反映在不同的预后结果上。越来越多的证据表明，血液或粪便标本中的DNA甲基化分析可能是一种有价值的非侵入性CRC诊断工具。此外，广泛的研究表明，对化疗治疗的个体间反应取决于结肠直肠癌细胞中发生的表观遗传修饰和基因突变，从而为个性化药物开辟了道路。总的来说，结合遗传学和表观遗传学数据可能是最有希望的诊断、预后和治疗方法的工具。（三）2014年百世登出版集团有限公司版权所有。
Colorectal cancer (CRC) is one of the most common cancer worldwide and results from the accumulation of mutations and epimutations in colonic mucosa cells ultimately leading to cell proliferation and metastasis. Unfortunately, CRC prognosis is still poor and the search of novel diagnostic and prognostic biomarkers is highly desired to prevent CRC-related deaths. The present article aims to summarize the most recent findings concerning the use of either genetic or epigenetic (mainly related to DNA methylation) biomarkers for CRC diagnosis, prognosis, and response to treatment. Recent large-scale DNA methylation studies suggest that CRC can be divided into several subtypes according to the frequency of DNA methylation and those of mutations in key CRC genes, and that this is reflected by different prognostic outcomes. Increasing evidence suggests that the analysis of DNA methylation in blood or fecal specimens could represent a valuable non-invasive diagnostic tool for CRC. Moreover, a broad spectrum of studies indicates that the inter-individual response to chemotherapeutic treatments depends on both epigenetic modifications and genetic mutations occurring in colorectal cancer cells, thereby opening the way for a personalized medicine. Overall, combining genetic and epigenetic data might represent the most promising tool for a proper diagnostic, prognostic and therapeutic approach. (C) 2014 Baishideng Publishing Group Co., Limited. All rights reserved.