结直肠癌基因组生物标志物发现的最新专利和进展。

Chen Quyun, Zhiyun Ye, Sheng-Cai Lin, Biaoyang Lin
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引用次数: 17

摘要

结直肠癌(CRC)是世界上第三大常见癌症。早期诊断结直肠癌是降低结直肠癌患者死亡率的关键。预测对当前CRC治疗方式的反应也将对患者护理产生重大影响。本文综述了CRC生物标志物发现的最新进展和专利,分为五大类;包括基因组变化、表达变化、突变、表观遗传变化和microrna。有趣的专利包括:1)一项基于是否发生凋亡和DNA降解来区分正常脱落细胞和癌细胞的方法的专利;2)基于MDM2、DUSP6、NFl基因上调、RNF4、MMD、EIF2S3基因下调表达变化的模型(PM-33多分子标记模型),对结直肠癌诊断的敏感性为88%,特异性为82%;3) PTEN、KRAS、PIK3CA基因突变预测对抗egfr疗法(一种用于结直肠癌治疗的常用药物)的反应;4) ITGA4、SEPT9、ALX4、TFAP2E、FOXL2、SARM1、ID4等多种关键mirna的表观遗传变化专利。最后,对该领域的未来发展方向进行了评论或建议,包括多类别生物标志物和通路中心或基于网络的生物标志物面板的组合。
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Recent patents and advances in genomic biomarker discovery for colorectal cancers.

Colorectal cancer (CRC) is the third most common cancer in the world. Early diagnosis of colorectal cancer is the key to reducing the death rate of CRC patients. Predicting the response to current therapeutic modalities of CRC will also have a great impact on patient care. This review summarizes recent advances and patents in biomarker discovery in CRC under five major categories; including genomic changes, expression changes, mutations, epigenetic changes and microRNAs. The interesting patents include: 1) a patent for a method to differentiate normal exfoliated cells from cancer cells based on whether they were subjected to apoptosis and DNA degradation; 2) A model (PM-33 multiple molecular marker model) based on expression changes of up-regulation of the MDM2, DUSP6, and NFl genes down-regulation of the RNF4, MMD and EIF2S3 genes, which achieved an 88% sensitivity, and an 82% specificity for CRC diagnosis; 3) gene mutations in PTEN, KRAS, PIK3CA for predicting the response to anti-EGFR therapies, a common drug used for CRC treatment; 4) patents on epigenetic changes of ITGA4, SEPT9, ALX4, TFAP2E FOXL2, SARM1, ID4 etc. and many key miRNAs. Finally, future directions in the fields were commented on or suggested, including the combination of multiple categories of biomarkers and pathway central or network-based biomarker panels.

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