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An Integrated Microfluidic Platform for Detecting BRCA1/BRCA2 Gene Mutation and Risk Assessment of Ovarian Cancer

机译:一种用于检测BRCA1 / BRCA2基因突变和卵巢癌风险评估的集成微流体平台

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Ovarian cancer is known as a “silent killer” for women because it is difficult to be diagnosed at early stages. The five-year survival rate of early-stage ovarian cancer is 92%, but at the late stages, drops to only 17%. Several tools have been used for ovarian cancer screening; however, the outcome is still not satisfactory. Therefore, there is a great need to develop a new method to screen ovarian cancer precisely. Recently, BRCA1/2 gene mutations were confirmed to be highly associate with the occurrence of ovarian cancer. Patients with these gene mutations are risky of developing it in their lifetime. Liquid biopsy such as cell-free DNA (cfDNA) is an emerging non-invasive technology that brings information about tumors from the blood. Previous studies have found BRCA1/2 gene mutations in cfDNA could serve a potential tool for the screening and risk assessment of ovarian cancer. Therefore, an integrated microfluidic system was developed in this work to extract cfDNA from patients' plasma and BRCA1/2 gene mutations were verified automatically, which can provide clinicians a convenient way for risk assessment.
机译:卵巢癌被称为女性的“无声杀手”,因为难以在早期阶段被诊断出来。早期卵巢癌的五年存活率为92%,但在晚期阶段,下降只为17%。几种工具已用于卵巢癌筛查;但是,结果仍然不令人满意。因此,很有需要开发一种新方法来精确地筛选卵巢癌。最近,BRCA1 / 2基因突变被证实与卵巢癌的发生是高度助的。患有这些基因突变的患者在寿命中展现出来的风险。液体活检,例如无细胞DNA(CFDNA)是一种新兴的非侵入性技术,可以从血液中带来有关肿瘤的信息。先前的研究发现,CFDNA中的BRCA1 / 2基因突变可以用于筛选和风险评估卵巢癌的潜在工具。因此,在这项工作中开发了一种集成的微流体系统,以从患者中提取CFDNA的血浆,BRCA1 / 2基因突变自动验证,这可以为临床医生提供一种方便的风险评估方法。

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