College of Information and Computer Engineering, Northeast Forestry University, Harbin 150040, China.
School of Life Science and Technology, Computational Biology Research Center, Harbin Institute of Technology, Harbin 150001, China.
Exp Biol Med (Maywood). 2020 Apr;245(8):720-732. doi: 10.1177/1535370220906518. Epub 2020 Feb 12.
Gene mutations are closely related to cancers and drug sensitivity and noninvasive liquid biopsy was used to detect mutations of ctDNA in plasma. In this study, we performed exon sequencing of 416 cancer-related genes for cancer primary tissue and plasma samples of 20 patients in 11 cancers and obtained the comprehensive mutation landscape. We found that liquid biopsy is reliable in place of tissue biopsy. And 31 potential unique mutation prognostic markers were screened in 7 cancer types. Moreover, the drug-mutation network (DMN) was constructed and 9 gene mutations (B-Mut-9) were confirmed that can be served as drug biomarkers in blood. Our study showed that the variation in ctDNA can be used as the biomarkers for cancer prognosis and drug efficacy prediction. This can provide a reference for clinical noninvasive testing.
基因突变与癌症和药物敏感性密切相关,非侵入性的液体活检被用于检测血浆中 ctDNA 的突变。在这项研究中,我们对 20 名 11 种癌症患者的癌症原发组织和血浆样本进行了 416 个癌症相关基因的外显子测序,获得了全面的突变图谱。我们发现液体活检可以可靠地替代组织活检。在 7 种癌症类型中筛选到 31 个潜在的独特突变预后标志物。此外,构建了药物-突变网络(DMN),并验证了 9 个基因突变(B-Mut-9)可作为血液中的药物生物标志物。我们的研究表明,ctDNA 的变化可以作为癌症预后和药物疗效预测的生物标志物。这可为临床无创检测提供参考。