Improved next generation sequencing to detect ultra-rare, cancer gene mutations in circulating cell-free DNA in blood

改进的下一代测序技术可检测血液中循环游离 DNA 中的极其罕见的癌症基因突变

• 批准号: 131632
• 金额: $ 19.11万
• 依托单位: GENEFIRST LIMITED
• 依托单位国家: 英国
• 项目类别: Feasibility Studies
• 财政年份: 2014
• 资助国家: 英国
• 起止时间: 2014 至 无数据
• 项目状态: 已结题
• 来源: https://gtr.ukri.org/projects?ref=131632
• 关键词: Improved; next; generation; sequencing; detect

It has been well documented that the release of cell-free DNA into the bloodstream in patients with various types of cancer. There has been growing interest in trying to use such circulating tumour DNA as a non-invasive biomarker to detect the presence of malignancy, follow treatment response, gauge prognosis, or monitor for recurrence. However, current methods have significant limitations. Next Generation Sequencing (NGS) has revolutionised genomic exploration and analysis by making possible simultaneous sequencing of hundreds of billions of base pairs at a fraction of the time and cost of traditional methods. However, the sensitivity of this method is limited by the inherent error rate of the sequencer, as incorrectly read bases might be mistaken for true mutant copies. To overcome this limitation, GeneFirst has developed a method termed Targeted BiDirectional Sequencing technology. This is potentially suitable for detecting rare mutations in circulating cell-free DNA in blood.

有充分证据表明，患有各种类型癌症的患者都会将游离 DNA 释放到血液中。人们越来越有兴趣尝试使用这种循环肿瘤 DNA 作为非侵入性生物标志物来检测恶性肿瘤的存在、跟踪治疗反应、评估预后或监测复发。然而，当前的方法有很大的局限性。下一代测序 (NGS) 彻底改变了基因组探索和分析，使数千亿个碱基对的同步测序成为可能，而所需时间和成本仅为传统方法的一小部分。然而，该方法的灵敏度受到测序仪固有错误率的限制，因为错误读取的碱基可能会被误认为是真正的突变体副本。为了克服这一限制，GeneFirst 开发了一种称为靶向双向测序技术的方法。这可能适用于检测血液中循环游离 DNA 的罕见突变。