One of the most promising ways to diagnose cancer especially colorectal cancer (CRC) is to trace its epigenetic events.

In this article, a discovery step for detection of methylated DNA markers (MDMs) was performed using SureSelectXT Methyl-Seq in CRC case and control groups in addition to several methylation profiling datasets (GSE48684, GSE53051, GSE77718, GSE101764, and GSE42752). In silico validation of MDMs in colorectal and other cancers was conducted by Lnc2met. MethyLight assay was run on 40 and 47 case and control formalin-fixed paraffin-embedded tissues, respectively and the performance of selected genes were classified by support vector machine (SVM).

As a result, 180 regions were identified among all common genes. In addition to SEPT9 and SFRP2, the best three MDM regions were selected from SLC30A10, AKR1B1 and GALNT14. Based on all assays, the best performance was accomplished by SEPT9/AKR1B1 with 98% sensitivity, 99% specificity, 125 positive likelihood ratio, 0.02 negative likelihood ratio and 5074 diagnostic odds ratio.

Our results indicate that the AKR1B1/SEPT9 methylation panel detects CRC with a higher performance than SEPT9 methylation, which is a commercial diagnostic test for CRC. However, the creation of a clinically valuable test derived from this study requires performance evaluation in liquid biopsies.

诊断癌症尤其是大肠癌（CRC）的最有前途的方法之一是追踪其表观遗传事件。

在本文中，除了几个甲基化分析数据集（GSE48684，GSE53051，GSE77718，GSE101764和GSE42752）外，还在CRC病例组和对照组中使用SureSelectXT Methyl-Seq执行了检测甲基化DNA标记（MDM）的发现步骤。Lnc2met对大肠癌和其他癌症中的MDM进行了计算机验证。MethyLight分析分别在40和47例病例和对照福尔马林固定石蜡包埋的组织上进行，所选基因的性能通过支持向量机（SVM）进行分类。

结果，在所有共同基因中鉴定出180个区域。除了SEPT9和SFRP2外，还从SLC30A10，AKR1B1和GALNT14中选择了最佳的三个MDM区域。基于所有分析，SEPT9 / AKR1B1以98％的灵敏度，99％的特异性，125个正似然比，0.02个负似然比和5074个诊断比值比实现了最佳性能。

我们的结果表明，AKR1B1 / SEPT9甲基化检测小组检测到的CRC比SEPT9甲基化具有更高的性能，这是CRC的商业诊断测试。但是，根据这项研究创建具有临床价值的测试需要对液体活检进行性能评估。