机构：[1]Clinical Laboratory, Longgang Central Hospital of Shenzhen, Shenzhen, China.[2]Imunobio, Shenzhen, Shenzhen, China.[3]Department of Breast Thyroid Vascular Surgery, Longgang Central Hospital of Shenzhen, Shenzhen, China.[4]Division of ultrasonography, Shenzhen People’s Hospital, Shenzhen, China.医技科室超声科深圳市人民医院[5]Xiamen Branch, Shanghai Key Laboratory of Birth Defects, Division of Neonatology, Children’s Hospital of Fudan University, National Center for Children’s Health, Shanghai, China.
Background: Qualitative and quantitative detection of circulating tumor DNA (ctDNA) is a liquid biopsy technology used for early cancer diagnosis. However, the plasma ctDNA content is extremely low, so it is difficult to detect somatic mutations of tumors using conventional sequencing methods. Target region sequencing (TRS) technology, through enrichment of the target genomic region followed by next generation sequencing, overcomes this challenge and has been widely used in ctDNA sequencing. Methods: We designed a ctDNA sequencing panel to capture 128 tumor genes, and tested the performance of the panel by running TRS for ctDNA of a clear cell renal cell carcinoma (ccRCC) patient and 12 breast cancer patients. Results: TRS using the new ctDNA panel at more than 500 x coverage depth achieved almost the same accuracy as traditional whole-exome sequencing (WES). PBRM1 p.L641V was detected in the plasma sample of the ccRCC patient with an allele frequency of 0.2%. The ctDNA of 12 breast cancer patients was sequenced at a depth of 500-fold, achieving 99.89% coverage; 34 genes were detected with mutations, including the drug target genes BRCA2, PTEN, TP53, APC, KDR, and NOTCH2. Conclusions: This TRS new ctDNA panel can be used to detect mutations in cell-free DNA from multiple types of cancer.
第一作者机构：[1]Clinical Laboratory, Longgang Central Hospital of Shenzhen, Shenzhen, China.
共同第一作者：
通讯作者：
通讯机构：[1]Clinical Laboratory, Longgang Central Hospital of Shenzhen, Shenzhen, China.[5]Xiamen Branch, Shanghai Key Laboratory of Birth Defects, Division of Neonatology, Children’s Hospital of Fudan University, National Center for Children’s Health, Shanghai, China.[*1]Xiamen Branch, Shanghai Key Laboratory of Birth Defects, Division of Neonatology, Children’s Hospital of Fudan University, National Center for Children’s Health, Shanghai 201102, China[*2]Clinical Laboratory, Longgang Central Hospital of Shenzhen, Guangdong 518116, China
推荐引用方式(GB/T 7714)：
Jianxia Chen ,Jun Chen ,Fusheng He ,et al.Design of a Targeted Sequencing Assay to Detect Rare Mutations in Circulating Tumor DNA[J].GENETIC TESTING AND MOLECULAR BIOMARKERS.2019,23(4):264-269.doi:10.1089/gtmb.2018.0173.
APA：
Jianxia Chen,,Jun Chen,,Fusheng He,,Yiqiong Huang,,Shan Lu,...&Ruihuan Xu.(2019).Design of a Targeted Sequencing Assay to Detect Rare Mutations in Circulating Tumor DNA.GENETIC TESTING AND MOLECULAR BIOMARKERS,23,(4)
MLA：
Jianxia Chen,,et al."Design of a Targeted Sequencing Assay to Detect Rare Mutations in Circulating Tumor DNA".GENETIC TESTING AND MOLECULAR BIOMARKERS 23..4(2019):264-269
